Incidental Mutation 'R4184:Kdm7a'
| ID |
319860 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm7a
|
| Ensembl Gene |
ENSMUSG00000042599 |
| Gene Name |
lysine (K)-specific demethylase 7A |
| Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
| MMRRC Submission |
041020-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4184 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39125911 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 628
(E628G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
| AlphaFold |
Q3UWM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002305
AA Change: E628G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: E628G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
38 |
N/A |
INTRINSIC |
|
PHD
|
39 |
86 |
8.64e-9 |
SMART |
|
low complexity region
|
186 |
197 |
N/A |
INTRINSIC |
|
JmjC
|
230 |
386 |
1.09e-49 |
SMART |
|
low complexity region
|
408 |
419 |
N/A |
INTRINSIC |
|
low complexity region
|
653 |
668 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146981
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 95.0%
|
| Validation Efficiency |
95% (55/58) |
| MGI Phenotype |
PHENOTYPE: Homozygous mutants exhibit abnormal hair follicle, tail, sebaceous gland, rib, and vertebrae morphology and decreased circulating iron levels. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acte1 |
A |
T |
7: 143,447,858 (GRCm39) |
K234* |
probably null |
Het |
| Ccdc178 |
A |
G |
18: 22,157,841 (GRCm39) |
L539P |
probably damaging |
Het |
| Cd5 |
T |
A |
19: 10,698,638 (GRCm39) |
N423I |
probably damaging |
Het |
| Ceacam20 |
C |
T |
7: 19,710,041 (GRCm39) |
T355I |
probably damaging |
Het |
| Chil4 |
G |
A |
3: 106,111,043 (GRCm39) |
P284S |
possibly damaging |
Het |
| Cln8 |
T |
C |
8: 14,945,030 (GRCm39) |
F115L |
probably benign |
Het |
| Cpne9 |
T |
A |
6: 113,259,418 (GRCm39) |
|
probably benign |
Het |
| Cyp4a32 |
C |
T |
4: 115,478,720 (GRCm39) |
T484I |
possibly damaging |
Het |
| Des |
C |
G |
1: 75,339,228 (GRCm39) |
A251G |
probably benign |
Het |
| Dnah3 |
T |
C |
7: 119,682,516 (GRCm39) |
D270G |
probably damaging |
Het |
| Epc1 |
T |
C |
18: 6,453,578 (GRCm39) |
E249G |
possibly damaging |
Het |
| Fsbp |
T |
A |
4: 11,584,058 (GRCm39) |
N252K |
probably benign |
Het |
| Gramd1a |
C |
A |
7: 30,831,940 (GRCm39) |
|
probably benign |
Het |
| Grsf1 |
G |
A |
5: 88,812,015 (GRCm39) |
P271S |
probably benign |
Het |
| Igsf10 |
C |
T |
3: 59,227,152 (GRCm39) |
V2174M |
probably damaging |
Het |
| Kcnu1 |
T |
C |
8: 26,352,445 (GRCm39) |
L204P |
probably damaging |
Het |
| Klhl36 |
T |
C |
8: 120,601,124 (GRCm39) |
M381T |
probably damaging |
Het |
| Kpna3 |
A |
T |
14: 61,605,624 (GRCm39) |
Y474N |
probably damaging |
Het |
| Lsm8 |
G |
T |
6: 18,849,604 (GRCm39) |
|
probably benign |
Het |
| Mapk8 |
T |
C |
14: 33,104,177 (GRCm39) |
D413G |
probably damaging |
Het |
| Mbd2 |
T |
A |
18: 70,751,050 (GRCm39) |
C362S |
probably damaging |
Het |
| Mex3b |
A |
G |
7: 82,519,238 (GRCm39) |
R518G |
probably benign |
Het |
| Mical1 |
T |
C |
10: 41,357,866 (GRCm39) |
|
probably benign |
Het |
| Myo18a |
T |
C |
11: 77,748,613 (GRCm39) |
S1996P |
probably damaging |
Het |
| Or11g7 |
A |
G |
14: 50,690,827 (GRCm39) |
Y106C |
probably damaging |
Het |
| Or11h4b |
C |
G |
14: 50,918,507 (GRCm39) |
E195Q |
probably benign |
Het |
| Or1o2 |
T |
G |
17: 37,542,739 (GRCm39) |
H174P |
possibly damaging |
Het |
| Otop2 |
T |
A |
11: 115,220,671 (GRCm39) |
C504S |
probably benign |
Het |
| Pkhd1 |
T |
A |
1: 20,279,501 (GRCm39) |
H2939L |
probably benign |
Het |
| Pkhd1 |
C |
T |
1: 20,633,910 (GRCm39) |
V542M |
probably benign |
Het |
| Pkhd1l1 |
C |
T |
15: 44,455,302 (GRCm39) |
T4021I |
probably benign |
Het |
| Prr36 |
T |
C |
8: 4,263,409 (GRCm39) |
|
probably benign |
Het |
| Ptchd4 |
A |
T |
17: 42,813,650 (GRCm39) |
Y517F |
probably damaging |
Het |
| Pth1r |
A |
G |
9: 110,571,300 (GRCm39) |
M1T |
probably null |
Het |
| Rdx |
C |
A |
9: 51,978,680 (GRCm39) |
L163M |
probably damaging |
Het |
| Reep6 |
A |
G |
10: 80,169,648 (GRCm39) |
Y112C |
probably damaging |
Het |
| Rpp21 |
A |
G |
17: 36,568,611 (GRCm39) |
|
probably benign |
Het |
| Sacs |
T |
A |
14: 61,451,393 (GRCm39) |
C4480S |
probably damaging |
Het |
| Slc15a1 |
G |
A |
14: 121,703,574 (GRCm39) |
T512I |
probably benign |
Het |
| Slc22a22 |
A |
T |
15: 57,119,962 (GRCm39) |
C170* |
probably null |
Het |
| Slc26a2 |
C |
T |
18: 61,331,904 (GRCm39) |
R509K |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,147,786 (GRCm39) |
|
probably benign |
Het |
| Stc1 |
A |
T |
14: 69,266,834 (GRCm39) |
|
probably benign |
Het |
| Tbc1d32 |
T |
A |
10: 56,100,676 (GRCm39) |
T101S |
probably benign |
Het |
| Tsc2 |
T |
C |
17: 24,850,990 (GRCm39) |
T23A |
probably benign |
Het |
| Vmn1r52 |
T |
G |
6: 90,156,219 (GRCm39) |
F174L |
probably benign |
Het |
| Zfp972 |
G |
A |
2: 177,563,250 (GRCm39) |
Q56* |
probably null |
Het |
| Zfp982 |
A |
G |
4: 147,597,150 (GRCm39) |
K169R |
probably benign |
Het |
| Zfpl1 |
A |
G |
19: 6,131,170 (GRCm39) |
L274P |
probably damaging |
Het |
|
| Other mutations in Kdm7a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00595:Kdm7a
|
APN |
6 |
39,121,444 (GRCm39) |
missense |
probably benign |
|
|
IGL00976:Kdm7a
|
APN |
6 |
39,121,332 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
IGL01063:Kdm7a
|
APN |
6 |
39,142,064 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01325:Kdm7a
|
APN |
6 |
39,135,243 (GRCm39) |
splice site |
probably benign |
|
|
IGL01710:Kdm7a
|
APN |
6 |
39,152,320 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL01953:Kdm7a
|
APN |
6 |
39,123,836 (GRCm39) |
missense |
probably benign |
0.10 |
|
IGL02336:Kdm7a
|
APN |
6 |
39,147,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02721:Kdm7a
|
APN |
6 |
39,150,371 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
IGL02963:Kdm7a
|
APN |
6 |
39,120,164 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03165:Kdm7a
|
APN |
6 |
39,147,848 (GRCm39) |
splice site |
probably benign |
|
|
R0033:Kdm7a
|
UTSW |
6 |
39,142,131 (GRCm39) |
nonsense |
probably null |
|
|
R0831:Kdm7a
|
UTSW |
6 |
39,143,699 (GRCm39) |
splice site |
probably benign |
|
|
R0920:Kdm7a
|
UTSW |
6 |
39,128,256 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0962:Kdm7a
|
UTSW |
6 |
39,124,128 (GRCm39) |
missense |
probably benign |
0.05 |
|
R1403:Kdm7a
|
UTSW |
6 |
39,128,187 (GRCm39) |
splice site |
probably benign |
|
|
R1632:Kdm7a
|
UTSW |
6 |
39,129,832 (GRCm39) |
missense |
probably benign |
0.15 |
|
R1759:Kdm7a
|
UTSW |
6 |
39,124,633 (GRCm39) |
splice site |
probably null |
|
|
R2143:Kdm7a
|
UTSW |
6 |
39,145,884 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R2197:Kdm7a
|
UTSW |
6 |
39,123,870 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2496:Kdm7a
|
UTSW |
6 |
39,147,697 (GRCm39) |
splice site |
probably null |
|
|
R3844:Kdm7a
|
UTSW |
6 |
39,158,513 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4083:Kdm7a
|
UTSW |
6 |
39,129,748 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4193:Kdm7a
|
UTSW |
6 |
39,146,030 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4402:Kdm7a
|
UTSW |
6 |
39,143,602 (GRCm39) |
missense |
probably null |
1.00 |
|
R4544:Kdm7a
|
UTSW |
6 |
39,152,406 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4546:Kdm7a
|
UTSW |
6 |
39,152,406 (GRCm39) |
missense |
probably benign |
0.08 |
|
R4560:Kdm7a
|
UTSW |
6 |
39,129,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4561:Kdm7a
|
UTSW |
6 |
39,129,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4562:Kdm7a
|
UTSW |
6 |
39,129,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4563:Kdm7a
|
UTSW |
6 |
39,129,757 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R4737:Kdm7a
|
UTSW |
6 |
39,129,773 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
R5061:Kdm7a
|
UTSW |
6 |
39,128,386 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R5247:Kdm7a
|
UTSW |
6 |
39,121,390 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5430:Kdm7a
|
UTSW |
6 |
39,126,276 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R6248:Kdm7a
|
UTSW |
6 |
39,123,983 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6254:Kdm7a
|
UTSW |
6 |
39,147,203 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6346:Kdm7a
|
UTSW |
6 |
39,128,145 (GRCm39) |
splice site |
probably null |
|
|
R6420:Kdm7a
|
UTSW |
6 |
39,142,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6908:Kdm7a
|
UTSW |
6 |
39,121,373 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R6966:Kdm7a
|
UTSW |
6 |
39,129,773 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7048:Kdm7a
|
UTSW |
6 |
39,145,982 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7087:Kdm7a
|
UTSW |
6 |
39,152,315 (GRCm39) |
missense |
probably benign |
0.18 |
|
R7450:Kdm7a
|
UTSW |
6 |
39,120,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7737:Kdm7a
|
UTSW |
6 |
39,121,338 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8172:Kdm7a
|
UTSW |
6 |
39,125,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8223:Kdm7a
|
UTSW |
6 |
39,126,235 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8337:Kdm7a
|
UTSW |
6 |
39,122,461 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8950:Kdm7a
|
UTSW |
6 |
39,123,903 (GRCm39) |
missense |
probably benign |
|
|
R8996:Kdm7a
|
UTSW |
6 |
39,129,786 (GRCm39) |
missense |
probably benign |
0.21 |
|
R9421:Kdm7a
|
UTSW |
6 |
39,129,763 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9497:Kdm7a
|
UTSW |
6 |
39,128,253 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9506:Kdm7a
|
UTSW |
6 |
39,126,305 (GRCm39) |
missense |
probably benign |
0.08 |
|
R9523:Kdm7a
|
UTSW |
6 |
39,147,767 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9630:Kdm7a
|
UTSW |
6 |
39,150,239 (GRCm39) |
missense |
probably damaging |
0.96 |
|
RF012:Kdm7a
|
UTSW |
6 |
39,183,447 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CACTCACATTCAGCACCTTG -3'
(R):5'- AAAGGGTCTCAATCCTCTGCTAC -3'
Sequencing Primer
(F):5'- GCACCTTGCAGATTAGTGAAC -3'
(R):5'- ATCCTCTGCTACGTCTAAATGGAGG -3'
|
| Posted On |
2015-06-10 |
Incidental Mutation