Incidental Mutation 'R2061:Jmjd1c'
| ID |
316270 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Jmjd1c
|
| Ensembl Gene |
ENSMUSG00000037876 |
| Gene Name |
jumonji domain containing 1C |
| Synonyms |
D630035I23Rik, TRIP8, 5430433L24Rik |
| MMRRC Submission |
040066-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.655)
|
| Stock # |
R2061 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
66932189-67092105 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 67054205 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 323
(E323D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000134551
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051446]
[ENSMUST00000173689]
[ENSMUST00000174317]
[ENSMUST00000174408]
|
| AlphaFold |
Q69ZK6 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000051446
AA Change: E323D
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000056227
Gene: ENSMUSG00000037876
AA Change: E323D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:JmjC
|
143 |
2236 |
N/A |
BLAST |
|
JmjC
|
2264 |
2488 |
3.29e-53 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173187
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000173661
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000173689
AA Change: E142D
PolyPhen 2
Score 0.834 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000133700
Gene: ENSMUSG00000037876
AA Change: E142D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:JmjC
|
1 |
2056 |
N/A |
BLAST |
|
JmjC
|
2084 |
2308 |
3.29e-53 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174317
AA Change: E36D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134246
Gene: ENSMUSG00000037876
AA Change: E36D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:JmjC
|
1 |
744 |
N/A |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000174408
AA Change: E323D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000134551
Gene: ENSMUSG00000037876
AA Change: E323D
| Domain | Start | End | E-Value | Type |
|---|
|
Blast:JmjC
|
143 |
2237 |
N/A |
BLAST |
|
JmjC
|
2265 |
2489 |
3.29e-53 |
SMART |
|
| Meta Mutation Damage Score |
0.0611 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.5%
- 20x: 95.9%
|
| Validation Efficiency |
99% (124/125) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene interacts with thyroid hormone receptors and contains a jumonji domain. It is a candidate histone demethylase and is thought to be a coactivator for key transcription factors. It plays a role in the DNA-damage response pathway by demethylating the mediator of DNA damage checkpoint 1 (MDC1) protein, and is required for the survival of acute myeloid leukemia. Mutations in this gene are associated with Rett syndrome and intellectual disability. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2015]
PHENOTYPE: Mice homozygous for a null allele exhibit an age-dependent male infertility phenotype, characterized by early loss of undifferentiated spermatogonia, and a progressive reduction in testis size/weight and male germ cells, partly due to increased male germ cell apoptosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 122 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A4gnt |
T |
C |
9: 99,502,412 (GRCm39) |
S191P |
probably damaging |
Het |
| Ak2 |
C |
T |
4: 128,901,990 (GRCm39) |
A221V |
probably damaging |
Het |
| Akap9 |
T |
A |
5: 4,011,010 (GRCm39) |
V571E |
probably damaging |
Het |
| Amph |
G |
T |
13: 19,309,205 (GRCm39) |
E428* |
probably null |
Het |
| Armh3 |
C |
T |
19: 45,967,106 (GRCm39) |
R12Q |
probably damaging |
Het |
| Arnt2 |
T |
A |
7: 83,993,078 (GRCm39) |
D154V |
probably damaging |
Het |
| Arrdc1 |
G |
A |
2: 24,816,364 (GRCm39) |
Q202* |
probably null |
Het |
| Ate1 |
A |
G |
7: 130,112,643 (GRCm39) |
C72R |
probably damaging |
Het |
| Atox1 |
A |
G |
11: 55,345,724 (GRCm39) |
V22A |
possibly damaging |
Het |
| Bbs12 |
A |
T |
3: 37,373,215 (GRCm39) |
M3L |
probably damaging |
Het |
| Bfsp1 |
A |
G |
2: 143,704,598 (GRCm39) |
V85A |
probably benign |
Het |
| Bltp2 |
T |
A |
11: 78,159,575 (GRCm39) |
C541* |
probably null |
Het |
| Caskin2 |
C |
A |
11: 115,694,456 (GRCm39) |
V382F |
probably benign |
Het |
| Ccdc39 |
T |
A |
3: 33,874,045 (GRCm39) |
M596L |
probably damaging |
Het |
| Cd22 |
C |
T |
7: 30,569,530 (GRCm39) |
V529M |
probably damaging |
Het |
| Cd22 |
A |
C |
7: 30,575,581 (GRCm39) |
Y154D |
probably benign |
Het |
| Cdadc1 |
T |
A |
14: 59,818,783 (GRCm39) |
E348D |
probably damaging |
Het |
| Cdhr2 |
T |
C |
13: 54,868,631 (GRCm39) |
V531A |
probably damaging |
Het |
| Cdk11b |
A |
G |
4: 155,726,061 (GRCm39) |
|
probably benign |
Het |
| Cebpa |
G |
T |
7: 34,818,947 (GRCm39) |
R35L |
probably damaging |
Het |
| Chat |
T |
C |
14: 32,168,830 (GRCm39) |
N235S |
probably benign |
Het |
| Col12a1 |
T |
A |
9: 79,524,987 (GRCm39) |
I2725F |
possibly damaging |
Het |
| Cracr2b |
A |
G |
7: 141,045,193 (GRCm39) |
E231G |
probably damaging |
Het |
| Cryaa |
G |
T |
17: 31,900,029 (GRCm39) |
A151S |
probably benign |
Het |
| Cspg4b |
T |
A |
13: 113,454,628 (GRCm39) |
W225R |
probably damaging |
Het |
| Dab1 |
A |
T |
4: 104,535,938 (GRCm39) |
I116F |
probably damaging |
Het |
| Ddx43 |
C |
A |
9: 78,303,386 (GRCm39) |
N75K |
probably benign |
Het |
| Dmbt1 |
T |
G |
7: 130,700,863 (GRCm39) |
C1014G |
possibly damaging |
Het |
| Dner |
C |
A |
1: 84,383,710 (GRCm39) |
C558F |
probably damaging |
Het |
| Dsc2 |
A |
G |
18: 20,165,456 (GRCm39) |
V839A |
possibly damaging |
Het |
| Dsg3 |
C |
T |
18: 20,660,794 (GRCm39) |
R378* |
probably null |
Het |
| Ecpas |
G |
T |
4: 58,824,270 (GRCm39) |
P1116T |
probably damaging |
Het |
| Emilin1 |
C |
T |
5: 31,075,082 (GRCm39) |
P441L |
possibly damaging |
Het |
| Epha6 |
T |
C |
16: 59,476,160 (GRCm39) |
M1069V |
probably damaging |
Het |
| F930017D23Rik |
A |
C |
10: 43,480,416 (GRCm39) |
|
noncoding transcript |
Het |
| Faf1 |
A |
T |
4: 109,568,005 (GRCm39) |
N22Y |
probably damaging |
Het |
| Flrt3 |
A |
T |
2: 140,503,373 (GRCm39) |
V85E |
probably damaging |
Het |
| Gadl1 |
T |
A |
9: 115,770,448 (GRCm39) |
I87N |
probably damaging |
Het |
| Galnt14 |
A |
G |
17: 73,819,148 (GRCm39) |
F314S |
probably damaging |
Het |
| Gba2 |
A |
T |
4: 43,574,029 (GRCm39) |
Y141* |
probably null |
Het |
| Gdap1 |
A |
T |
1: 17,215,689 (GRCm39) |
|
probably benign |
Het |
| Gfod1 |
A |
T |
13: 43,456,719 (GRCm39) |
|
probably null |
Het |
| Gm14295 |
C |
T |
2: 176,502,474 (GRCm39) |
R655* |
probably null |
Het |
| Gm4353 |
A |
G |
7: 115,682,934 (GRCm39) |
S216P |
probably damaging |
Het |
| Gm6605 |
T |
A |
7: 38,147,706 (GRCm39) |
|
noncoding transcript |
Het |
| Hectd1 |
A |
T |
12: 51,841,227 (GRCm39) |
D634E |
probably damaging |
Het |
| Helz2 |
A |
G |
2: 180,882,337 (GRCm39) |
I152T |
probably damaging |
Het |
| Hivep1 |
A |
G |
13: 42,313,600 (GRCm39) |
K1947E |
possibly damaging |
Het |
| Ifrd1 |
A |
T |
12: 40,263,244 (GRCm39) |
F144L |
probably benign |
Het |
| Inhca |
T |
C |
9: 103,145,513 (GRCm39) |
M395V |
probably benign |
Het |
| Itgae |
A |
T |
11: 73,009,448 (GRCm39) |
Q544L |
probably benign |
Het |
| Kdm5a |
G |
T |
6: 120,358,578 (GRCm39) |
R207L |
probably benign |
Het |
| Kif5b |
C |
T |
18: 6,226,377 (GRCm39) |
|
probably null |
Het |
| Lbp |
T |
C |
2: 158,166,499 (GRCm39) |
V351A |
probably benign |
Het |
| Lss |
A |
T |
10: 76,381,932 (GRCm39) |
|
probably null |
Het |
| Madd |
A |
C |
2: 90,991,831 (GRCm39) |
|
probably benign |
Het |
| Map6 |
G |
A |
7: 98,966,679 (GRCm39) |
V503I |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,660,260 (GRCm39) |
L22P |
probably damaging |
Het |
| Mcfd2 |
T |
C |
17: 87,563,404 (GRCm39) |
N130D |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,305,902 (GRCm39) |
N5S |
probably benign |
Het |
| Mdm4 |
A |
T |
1: 132,940,389 (GRCm39) |
F48I |
probably damaging |
Het |
| Mga |
A |
T |
2: 119,795,461 (GRCm39) |
|
probably benign |
Het |
| Mknk2 |
A |
T |
10: 80,507,391 (GRCm39) |
|
probably null |
Het |
| Mmp15 |
T |
C |
8: 96,097,407 (GRCm39) |
Y459H |
possibly damaging |
Het |
| Mthfd1l |
A |
G |
10: 4,053,288 (GRCm39) |
K879R |
probably benign |
Het |
| Mycbp2 |
T |
C |
14: 103,524,696 (GRCm39) |
K655E |
probably damaging |
Het |
| Nasp |
T |
C |
4: 116,468,323 (GRCm39) |
N221D |
probably benign |
Het |
| Ndc80 |
T |
C |
17: 71,821,213 (GRCm39) |
E245G |
probably benign |
Het |
| Nmral1 |
C |
T |
16: 4,534,193 (GRCm39) |
E83K |
probably damaging |
Het |
| Noa1 |
T |
A |
5: 77,452,034 (GRCm39) |
Q550L |
possibly damaging |
Het |
| Nutm1 |
A |
T |
2: 112,086,097 (GRCm39) |
Y211* |
probably null |
Het |
| Or10n1 |
G |
T |
9: 39,525,071 (GRCm39) |
M69I |
probably benign |
Het |
| Or10v1 |
T |
A |
19: 11,873,921 (GRCm39) |
Y179N |
probably damaging |
Het |
| Or2ag18 |
A |
C |
7: 106,404,975 (GRCm39) |
H231Q |
probably benign |
Het |
| Or4l1 |
T |
C |
14: 50,166,478 (GRCm39) |
I174M |
possibly damaging |
Het |
| Or5b118 |
A |
G |
19: 13,448,605 (GRCm39) |
I90M |
probably damaging |
Het |
| Otoa |
T |
C |
7: 120,730,551 (GRCm39) |
F584L |
probably damaging |
Het |
| Palb2 |
G |
A |
7: 121,723,748 (GRCm39) |
T304I |
possibly damaging |
Het |
| Pcolce2 |
A |
T |
9: 95,552,229 (GRCm39) |
M121L |
probably benign |
Het |
| Pcsk5 |
T |
C |
19: 17,432,236 (GRCm39) |
T1460A |
probably benign |
Het |
| Pdzrn4 |
A |
T |
15: 92,668,041 (GRCm39) |
D731V |
probably damaging |
Het |
| Pex11b |
C |
A |
3: 96,543,037 (GRCm39) |
Q12K |
possibly damaging |
Het |
| Pigw |
G |
C |
11: 84,768,136 (GRCm39) |
Q398E |
probably benign |
Het |
| Pkd1 |
A |
G |
17: 24,788,888 (GRCm39) |
E882G |
possibly damaging |
Het |
| Pkhd1 |
A |
T |
1: 20,683,036 (GRCm39) |
N55K |
possibly damaging |
Het |
| Plch2 |
A |
T |
4: 155,127,298 (GRCm39) |
|
probably benign |
Het |
| Plcl1 |
T |
A |
1: 55,790,504 (GRCm39) |
L1058Q |
probably benign |
Het |
| Ppfia2 |
T |
C |
10: 106,673,190 (GRCm39) |
S511P |
possibly damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,338,437 (GRCm39) |
L676P |
probably damaging |
Het |
| Ppp6c |
T |
G |
2: 39,116,186 (GRCm39) |
D23A |
probably damaging |
Het |
| Prss30 |
G |
A |
17: 24,193,642 (GRCm39) |
|
probably benign |
Het |
| Ptprz1 |
T |
C |
6: 23,049,674 (GRCm39) |
|
probably null |
Het |
| Rec114 |
T |
A |
9: 58,560,188 (GRCm39) |
|
probably benign |
Het |
| Ryr2 |
T |
C |
13: 11,680,764 (GRCm39) |
|
probably null |
Het |
| Ryr3 |
A |
T |
2: 112,493,349 (GRCm39) |
I3715N |
possibly damaging |
Het |
| Scin |
T |
C |
12: 40,130,947 (GRCm39) |
Y322C |
probably damaging |
Het |
| Scn3a |
A |
G |
2: 65,291,652 (GRCm39) |
V1698A |
probably damaging |
Het |
| Scn5a |
G |
A |
9: 119,314,717 (GRCm39) |
S1996L |
probably damaging |
Het |
| Serpinb2 |
A |
G |
1: 107,450,525 (GRCm39) |
K174R |
possibly damaging |
Het |
| Slc16a4 |
T |
C |
3: 107,208,027 (GRCm39) |
I179T |
probably benign |
Het |
| Slc35b1 |
T |
G |
11: 95,276,718 (GRCm39) |
F102V |
possibly damaging |
Het |
| Slc66a2 |
G |
T |
18: 80,334,930 (GRCm39) |
A232S |
probably benign |
Het |
| Slc6a15 |
A |
G |
10: 103,245,595 (GRCm39) |
D526G |
probably benign |
Het |
| Spata16 |
A |
G |
3: 26,978,519 (GRCm39) |
D495G |
probably damaging |
Het |
| Stk11ip |
G |
A |
1: 75,506,228 (GRCm39) |
E583K |
possibly damaging |
Het |
| Stk-ps1 |
T |
G |
17: 36,709,044 (GRCm39) |
|
noncoding transcript |
Het |
| Sufu |
T |
A |
19: 46,385,651 (GRCm39) |
I37N |
probably damaging |
Het |
| Tacr1 |
C |
T |
6: 82,469,535 (GRCm39) |
P140S |
probably damaging |
Het |
| Tas1r3 |
G |
A |
4: 155,944,927 (GRCm39) |
R765C |
probably damaging |
Het |
| Tenm3 |
C |
T |
8: 48,795,291 (GRCm39) |
|
probably null |
Het |
| Tex36 |
A |
T |
7: 133,196,952 (GRCm39) |
I55N |
probably damaging |
Het |
| Tmem150c |
T |
C |
5: 100,227,887 (GRCm39) |
Y192C |
probably damaging |
Het |
| Tmem237 |
A |
G |
1: 59,159,445 (GRCm39) |
|
probably benign |
Het |
| Trim11 |
A |
G |
11: 58,872,889 (GRCm39) |
E191G |
probably damaging |
Het |
| Ttll3 |
C |
T |
6: 113,386,003 (GRCm39) |
A612V |
possibly damaging |
Het |
| Ttn |
G |
A |
2: 76,807,466 (GRCm39) |
A89V |
probably damaging |
Het |
| Usp37 |
A |
G |
1: 74,507,431 (GRCm39) |
F529L |
probably damaging |
Het |
| Vmn1r217 |
A |
C |
13: 23,298,698 (GRCm39) |
V68G |
probably benign |
Het |
| Vwf |
T |
C |
6: 125,568,151 (GRCm39) |
S349P |
probably damaging |
Het |
| Wt1 |
G |
A |
2: 104,961,502 (GRCm39) |
|
probably null |
Het |
| Zcchc7 |
T |
A |
4: 44,895,838 (GRCm39) |
L262H |
probably damaging |
Het |
| Zfp873 |
A |
G |
10: 81,895,991 (GRCm39) |
S241G |
probably benign |
Het |
|
| Other mutations in Jmjd1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01062:Jmjd1c
|
APN |
10 |
67,062,494 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01604:Jmjd1c
|
APN |
10 |
67,085,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01753:Jmjd1c
|
APN |
10 |
67,067,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02081:Jmjd1c
|
APN |
10 |
67,055,305 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02128:Jmjd1c
|
APN |
10 |
67,079,648 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02134:Jmjd1c
|
APN |
10 |
67,056,171 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL02215:Jmjd1c
|
APN |
10 |
67,056,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02408:Jmjd1c
|
APN |
10 |
67,062,161 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02502:Jmjd1c
|
APN |
10 |
67,061,640 (GRCm39) |
missense |
probably benign |
0.13 |
|
IGL02546:Jmjd1c
|
APN |
10 |
67,061,115 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02943:Jmjd1c
|
APN |
10 |
67,055,433 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03171:Jmjd1c
|
APN |
10 |
67,061,277 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
IGL03261:Jmjd1c
|
APN |
10 |
67,067,849 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Accordion
|
UTSW |
10 |
67,069,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
PIT4378001:Jmjd1c
|
UTSW |
10 |
67,065,692 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0126:Jmjd1c
|
UTSW |
10 |
67,055,105 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R0133:Jmjd1c
|
UTSW |
10 |
67,076,587 (GRCm39) |
missense |
probably benign |
0.22 |
|
R0201:Jmjd1c
|
UTSW |
10 |
67,054,888 (GRCm39) |
missense |
unknown |
|
|
R0396:Jmjd1c
|
UTSW |
10 |
67,055,302 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R0401:Jmjd1c
|
UTSW |
10 |
67,056,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0452:Jmjd1c
|
UTSW |
10 |
67,091,261 (GRCm39) |
missense |
probably benign |
0.28 |
|
R0488:Jmjd1c
|
UTSW |
10 |
67,076,506 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0504:Jmjd1c
|
UTSW |
10 |
67,061,534 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0555:Jmjd1c
|
UTSW |
10 |
67,061,568 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0673:Jmjd1c
|
UTSW |
10 |
67,062,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0718:Jmjd1c
|
UTSW |
10 |
67,054,725 (GRCm39) |
splice site |
probably null |
|
|
R0755:Jmjd1c
|
UTSW |
10 |
66,932,378 (GRCm39) |
intron |
probably benign |
|
|
R1142:Jmjd1c
|
UTSW |
10 |
67,061,124 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1196:Jmjd1c
|
UTSW |
10 |
67,075,015 (GRCm39) |
splice site |
probably benign |
|
|
R1413:Jmjd1c
|
UTSW |
10 |
67,085,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1619:Jmjd1c
|
UTSW |
10 |
67,055,654 (GRCm39) |
missense |
probably benign |
0.25 |
|
R1676:Jmjd1c
|
UTSW |
10 |
67,060,588 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1751:Jmjd1c
|
UTSW |
10 |
67,061,469 (GRCm39) |
missense |
probably benign |
|
|
R1950:Jmjd1c
|
UTSW |
10 |
67,075,701 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R1968:Jmjd1c
|
UTSW |
10 |
67,061,219 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2049:Jmjd1c
|
UTSW |
10 |
66,993,777 (GRCm39) |
nonsense |
probably null |
|
|
R2202:Jmjd1c
|
UTSW |
10 |
67,075,242 (GRCm39) |
splice site |
probably null |
|
|
R2203:Jmjd1c
|
UTSW |
10 |
67,075,242 (GRCm39) |
splice site |
probably null |
|
|
R2256:Jmjd1c
|
UTSW |
10 |
67,061,073 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2312:Jmjd1c
|
UTSW |
10 |
67,074,629 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2349:Jmjd1c
|
UTSW |
10 |
67,091,279 (GRCm39) |
missense |
probably benign |
|
|
R2392:Jmjd1c
|
UTSW |
10 |
67,065,683 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3015:Jmjd1c
|
UTSW |
10 |
66,993,711 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3110:Jmjd1c
|
UTSW |
10 |
67,075,863 (GRCm39) |
splice site |
probably benign |
|
|
R4043:Jmjd1c
|
UTSW |
10 |
67,055,245 (GRCm39) |
missense |
possibly damaging |
0.55 |
|
R4097:Jmjd1c
|
UTSW |
10 |
67,054,787 (GRCm39) |
missense |
probably benign |
0.09 |
|
R4118:Jmjd1c
|
UTSW |
10 |
67,055,532 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4193:Jmjd1c
|
UTSW |
10 |
66,932,460 (GRCm39) |
intron |
probably benign |
|
|
R4352:Jmjd1c
|
UTSW |
10 |
67,080,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4577:Jmjd1c
|
UTSW |
10 |
67,085,529 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4630:Jmjd1c
|
UTSW |
10 |
66,993,753 (GRCm39) |
nonsense |
probably null |
|
|
R4717:Jmjd1c
|
UTSW |
10 |
66,993,830 (GRCm39) |
nonsense |
probably null |
|
|
R4741:Jmjd1c
|
UTSW |
10 |
67,060,718 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R4774:Jmjd1c
|
UTSW |
10 |
67,060,571 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
R4836:Jmjd1c
|
UTSW |
10 |
67,069,225 (GRCm39) |
missense |
probably benign |
0.21 |
|
R4914:Jmjd1c
|
UTSW |
10 |
67,054,750 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4939:Jmjd1c
|
UTSW |
10 |
67,081,916 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5211:Jmjd1c
|
UTSW |
10 |
67,067,795 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5215:Jmjd1c
|
UTSW |
10 |
67,076,480 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5514:Jmjd1c
|
UTSW |
10 |
67,053,928 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5530:Jmjd1c
|
UTSW |
10 |
67,085,541 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5624:Jmjd1c
|
UTSW |
10 |
67,069,193 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5640:Jmjd1c
|
UTSW |
10 |
67,061,857 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5654:Jmjd1c
|
UTSW |
10 |
67,065,785 (GRCm39) |
missense |
probably benign |
0.10 |
|
R5742:Jmjd1c
|
UTSW |
10 |
67,056,112 (GRCm39) |
missense |
probably benign |
0.02 |
|
R5764:Jmjd1c
|
UTSW |
10 |
67,062,291 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6118:Jmjd1c
|
UTSW |
10 |
67,075,791 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6163:Jmjd1c
|
UTSW |
10 |
67,083,827 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R6256:Jmjd1c
|
UTSW |
10 |
67,056,187 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6266:Jmjd1c
|
UTSW |
10 |
67,085,439 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6358:Jmjd1c
|
UTSW |
10 |
67,061,718 (GRCm39) |
missense |
probably benign |
|
|
R6430:Jmjd1c
|
UTSW |
10 |
67,059,939 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R6455:Jmjd1c
|
UTSW |
10 |
67,061,795 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6887:Jmjd1c
|
UTSW |
10 |
67,025,599 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R6895:Jmjd1c
|
UTSW |
10 |
67,052,869 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7041:Jmjd1c
|
UTSW |
10 |
67,056,388 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R7095:Jmjd1c
|
UTSW |
10 |
67,055,411 (GRCm39) |
missense |
probably benign |
0.39 |
|
R7113:Jmjd1c
|
UTSW |
10 |
66,993,780 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7225:Jmjd1c
|
UTSW |
10 |
67,061,844 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7249:Jmjd1c
|
UTSW |
10 |
67,025,596 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7361:Jmjd1c
|
UTSW |
10 |
67,054,143 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7383:Jmjd1c
|
UTSW |
10 |
67,025,537 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7460:Jmjd1c
|
UTSW |
10 |
67,052,815 (GRCm39) |
missense |
probably benign |
0.24 |
|
R7475:Jmjd1c
|
UTSW |
10 |
67,061,092 (GRCm39) |
missense |
probably benign |
0.22 |
|
R7502:Jmjd1c
|
UTSW |
10 |
67,067,794 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7699:Jmjd1c
|
UTSW |
10 |
67,054,195 (GRCm39) |
missense |
probably benign |
0.10 |
|
R7745:Jmjd1c
|
UTSW |
10 |
67,052,824 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7897:Jmjd1c
|
UTSW |
10 |
67,075,644 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7908:Jmjd1c
|
UTSW |
10 |
67,061,621 (GRCm39) |
missense |
probably benign |
|
|
R7911:Jmjd1c
|
UTSW |
10 |
67,067,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7967:Jmjd1c
|
UTSW |
10 |
67,085,461 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8058:Jmjd1c
|
UTSW |
10 |
67,090,274 (GRCm39) |
missense |
not run |
|
|
R8224:Jmjd1c
|
UTSW |
10 |
67,080,628 (GRCm39) |
missense |
noncoding transcript |
|
|
R8251:Jmjd1c
|
UTSW |
10 |
67,075,068 (GRCm39) |
missense |
noncoding transcript |
|
|
R8797:Jmjd1c
|
UTSW |
10 |
67,060,616 (GRCm39) |
missense |
probably benign |
|
|
R8833:Jmjd1c
|
UTSW |
10 |
67,054,162 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9262:Jmjd1c
|
UTSW |
10 |
67,083,793 (GRCm39) |
missense |
probably benign |
0.39 |
|
R9354:Jmjd1c
|
UTSW |
10 |
67,059,875 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9373:Jmjd1c
|
UTSW |
10 |
66,932,495 (GRCm39) |
intron |
probably benign |
|
|
R9477:Jmjd1c
|
UTSW |
10 |
66,993,734 (GRCm39) |
nonsense |
probably null |
|
|
R9519:Jmjd1c
|
UTSW |
10 |
66,993,798 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9701:Jmjd1c
|
UTSW |
10 |
67,060,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9802:Jmjd1c
|
UTSW |
10 |
67,060,745 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
RF011:Jmjd1c
|
UTSW |
10 |
67,055,978 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
Z1088:Jmjd1c
|
UTSW |
10 |
67,073,953 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Jmjd1c
|
UTSW |
10 |
67,073,953 (GRCm39) |
missense |
probably benign |
|
|
Z1177:Jmjd1c
|
UTSW |
10 |
67,081,904 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Z1177:Jmjd1c
|
UTSW |
10 |
67,073,953 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCACTGTTCACGTATGTATG -3'
(R):5'- GTCACCACGTGCTTGTTCTT -3'
Sequencing Primer
(F):5'- GCTCAAGCAAATAGTCCC -3'
(R):5'- GATCTCTGAGTCTGACACTAGCCAG -3'
|
| Posted On |
2015-05-15 |
Incidental Mutation