Incidental Mutation 'R7230:Kdm4b'
| ID |
562439 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm4b
|
| Ensembl Gene |
ENSMUSG00000024201 |
| Gene Name |
lysine (K)-specific demethylase 4B |
| Synonyms |
Jmjd2b, 4732474L06Rik |
| MMRRC Submission |
045302-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7230 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
17 |
| Chromosomal Location |
56633062-56709870 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 56676155 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 220
(L220R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025036
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025036]
[ENSMUST00000086835]
|
| AlphaFold |
Q91VY5 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025036
AA Change: L220R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: L220R
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
|
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
|
PHD
|
719 |
777 |
2.5e-5 |
SMART |
|
PHD
|
839 |
895 |
7.07e-5 |
SMART |
|
TUDOR
|
905 |
962 |
1.68e-9 |
SMART |
|
TUDOR
|
963 |
1019 |
7.94e-11 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000086835
AA Change: L220R
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: L220R
| Domain | Start | End | E-Value | Type |
|---|
|
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
|
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
|
JmjC
|
143 |
309 |
1.19e-59 |
SMART |
|
low complexity region
|
349 |
361 |
N/A |
INTRINSIC |
|
low complexity region
|
380 |
399 |
N/A |
INTRINSIC |
|
low complexity region
|
443 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
481 |
495 |
N/A |
INTRINSIC |
|
low complexity region
|
511 |
537 |
N/A |
INTRINSIC |
|
PHD
|
712 |
770 |
2.5e-5 |
SMART |
|
PHD
|
832 |
888 |
7.07e-5 |
SMART |
|
TUDOR
|
898 |
954 |
2.31e-12 |
SMART |
|
| Meta Mutation Damage Score |
0.9741 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
100% (50/50) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a targeted allele lacking demethylase activity exhibit no gross abnormalities. Mice homozygous for a conditional allele activated in mammary gland epithelial cells exhibit delayed mammary gland development with reduced branching. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc8 |
A |
C |
7: 45,766,812 (GRCm39) |
D989E |
probably benign |
Het |
| Adad1 |
A |
G |
3: 37,119,315 (GRCm39) |
Y132C |
probably damaging |
Het |
| Adam33 |
A |
T |
2: 130,895,483 (GRCm39) |
C579S |
probably damaging |
Het |
| Adam6a |
A |
C |
12: 113,509,202 (GRCm39) |
Q525P |
probably damaging |
Het |
| Alpk3 |
C |
T |
7: 80,743,042 (GRCm39) |
P953L |
probably damaging |
Het |
| Arb2a |
G |
A |
13: 77,907,591 (GRCm39) |
E5K |
probably damaging |
Het |
| Atat1 |
A |
G |
17: 36,220,331 (GRCm39) |
S54P |
probably damaging |
Het |
| Bpgm |
A |
G |
6: 34,464,502 (GRCm39) |
E73G |
possibly damaging |
Het |
| Cab39 |
T |
A |
1: 85,775,880 (GRCm39) |
|
probably null |
Het |
| Ccdc162 |
A |
G |
10: 41,554,809 (GRCm39) |
L285P |
probably damaging |
Het |
| Ccdc30 |
T |
C |
4: 119,196,979 (GRCm39) |
E429G |
possibly damaging |
Het |
| Cct3 |
C |
T |
3: 88,220,567 (GRCm39) |
R260W |
probably damaging |
Het |
| Chd1 |
C |
A |
17: 15,927,199 (GRCm39) |
|
probably null |
Het |
| Cxcr4 |
T |
G |
1: 128,517,527 (GRCm39) |
T45P |
probably damaging |
Het |
| Disp2 |
G |
T |
2: 118,622,286 (GRCm39) |
R1006L |
probably damaging |
Het |
| Dlec1 |
T |
G |
9: 118,953,606 (GRCm39) |
|
probably null |
Het |
| Dram2 |
T |
G |
3: 106,480,294 (GRCm39) |
Y202* |
probably null |
Het |
| Etl4 |
C |
A |
2: 20,802,799 (GRCm39) |
T1035K |
probably damaging |
Het |
| F5 |
T |
C |
1: 164,012,522 (GRCm39) |
F479L |
probably benign |
Het |
| Frrs1l |
C |
A |
4: 56,972,372 (GRCm39) |
G110W |
probably damaging |
Het |
| Gpbp1l1 |
T |
A |
4: 116,445,807 (GRCm39) |
I303N |
probably damaging |
Het |
| Grik5 |
A |
G |
7: 24,722,495 (GRCm39) |
F538S |
probably damaging |
Het |
| Hgsnat |
C |
A |
8: 26,444,860 (GRCm39) |
|
probably null |
Het |
| Hs2st1 |
T |
C |
3: 144,140,307 (GRCm39) |
D338G |
probably benign |
Het |
| Impdh1 |
T |
C |
6: 29,206,062 (GRCm39) |
|
probably null |
Het |
| Ipo9 |
T |
C |
1: 135,334,496 (GRCm39) |
|
probably benign |
Het |
| Map1a |
T |
A |
2: 121,131,299 (GRCm39) |
F705Y |
probably damaging |
Het |
| Med22 |
C |
T |
2: 26,798,223 (GRCm39) |
D99N |
probably benign |
Het |
| Muc6 |
T |
C |
7: 141,235,479 (GRCm39) |
Y519C |
probably damaging |
Het |
| Myt1l |
A |
G |
12: 29,833,873 (GRCm39) |
I25M |
probably damaging |
Het |
| Ncam1 |
T |
A |
9: 49,421,123 (GRCm39) |
I731F |
probably benign |
Het |
| Nlrp4f |
T |
A |
13: 65,342,715 (GRCm39) |
H310L |
probably benign |
Het |
| Or2ag1b |
A |
T |
7: 106,288,731 (GRCm39) |
M69K |
possibly damaging |
Het |
| Or2ag2b |
C |
A |
7: 106,417,386 (GRCm39) |
T32K |
possibly damaging |
Het |
| Or4f14 |
T |
A |
2: 111,742,906 (GRCm39) |
Y123F |
probably damaging |
Het |
| Or4k40 |
A |
T |
2: 111,251,261 (GRCm39) |
F12I |
probably damaging |
Het |
| Prl8a6 |
T |
A |
13: 27,617,021 (GRCm39) |
Y223F |
probably benign |
Het |
| Prss39 |
A |
G |
1: 34,541,228 (GRCm39) |
D244G |
probably damaging |
Het |
| Ptx4 |
A |
T |
17: 25,342,077 (GRCm39) |
Q184L |
possibly damaging |
Het |
| Slc26a1 |
A |
T |
5: 108,819,611 (GRCm39) |
D545E |
probably damaging |
Het |
| Slc7a12 |
T |
C |
3: 14,570,441 (GRCm39) |
S398P |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,639,931 (GRCm39) |
V241A |
probably damaging |
Het |
| Snw1 |
T |
C |
12: 87,511,324 (GRCm39) |
D109G |
probably damaging |
Het |
| Syne2 |
T |
A |
12: 75,980,674 (GRCm39) |
I1477K |
probably benign |
Het |
| Timd4 |
A |
T |
11: 46,701,691 (GRCm39) |
Y18F |
probably benign |
Het |
| Tmprss2 |
A |
G |
16: 97,379,797 (GRCm39) |
Y168H |
probably benign |
Het |
| Ttn |
A |
T |
2: 76,569,044 (GRCm39) |
I27283K |
probably damaging |
Het |
| Tulp4 |
C |
T |
17: 6,282,055 (GRCm39) |
H695Y |
probably damaging |
Het |
| Vasn |
C |
T |
16: 4,467,486 (GRCm39) |
R478C |
probably benign |
Het |
| Zfp58 |
A |
T |
13: 67,640,082 (GRCm39) |
C136* |
probably null |
Het |
|
| Other mutations in Kdm4b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01293:Kdm4b
|
APN |
17 |
56,660,019 (GRCm39) |
missense |
probably benign |
0.28 |
|
IGL01408:Kdm4b
|
APN |
17 |
56,660,518 (GRCm39) |
splice site |
probably benign |
|
|
IGL01610:Kdm4b
|
APN |
17 |
56,660,522 (GRCm39) |
splice site |
probably benign |
|
|
IGL01936:Kdm4b
|
APN |
17 |
56,704,355 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01964:Kdm4b
|
APN |
17 |
56,696,256 (GRCm39) |
splice site |
probably null |
|
|
IGL02151:Kdm4b
|
APN |
17 |
56,703,234 (GRCm39) |
missense |
probably benign |
0.05 |
|
IGL02596:Kdm4b
|
APN |
17 |
56,706,706 (GRCm39) |
missense |
probably benign |
0.14 |
|
IGL02975:Kdm4b
|
APN |
17 |
56,682,996 (GRCm39) |
splice site |
probably null |
|
|
IGL03172:Kdm4b
|
APN |
17 |
56,708,649 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Coelestinum
|
UTSW |
17 |
56,660,091 (GRCm39) |
missense |
probably benign |
0.31 |
|
mistflower
|
UTSW |
17 |
56,696,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R0193:Kdm4b
|
UTSW |
17 |
56,700,952 (GRCm39) |
missense |
probably benign |
0.04 |
|
R0311:Kdm4b
|
UTSW |
17 |
56,693,200 (GRCm39) |
missense |
probably benign |
0.42 |
|
R0331:Kdm4b
|
UTSW |
17 |
56,693,289 (GRCm39) |
splice site |
probably benign |
|
|
R1109:Kdm4b
|
UTSW |
17 |
56,706,430 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1499:Kdm4b
|
UTSW |
17 |
56,707,025 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1895:Kdm4b
|
UTSW |
17 |
56,704,340 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1985:Kdm4b
|
UTSW |
17 |
56,708,302 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2087:Kdm4b
|
UTSW |
17 |
56,696,564 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
R2185:Kdm4b
|
UTSW |
17 |
56,700,750 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2904:Kdm4b
|
UTSW |
17 |
56,662,884 (GRCm39) |
missense |
probably benign |
0.03 |
|
R3792:Kdm4b
|
UTSW |
17 |
56,662,944 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3897:Kdm4b
|
UTSW |
17 |
56,703,955 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4661:Kdm4b
|
UTSW |
17 |
56,706,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4685:Kdm4b
|
UTSW |
17 |
56,708,675 (GRCm39) |
missense |
probably benign |
0.06 |
|
R4716:Kdm4b
|
UTSW |
17 |
56,693,178 (GRCm39) |
missense |
probably benign |
0.10 |
|
R4790:Kdm4b
|
UTSW |
17 |
56,708,618 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4864:Kdm4b
|
UTSW |
17 |
56,660,091 (GRCm39) |
missense |
probably benign |
0.31 |
|
R5700:Kdm4b
|
UTSW |
17 |
56,658,700 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R5963:Kdm4b
|
UTSW |
17 |
56,706,732 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6003:Kdm4b
|
UTSW |
17 |
56,703,916 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6029:Kdm4b
|
UTSW |
17 |
56,703,576 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6769:Kdm4b
|
UTSW |
17 |
56,658,754 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6771:Kdm4b
|
UTSW |
17 |
56,658,754 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R6927:Kdm4b
|
UTSW |
17 |
56,706,435 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7041:Kdm4b
|
UTSW |
17 |
56,703,592 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R7275:Kdm4b
|
UTSW |
17 |
56,703,333 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7454:Kdm4b
|
UTSW |
17 |
56,696,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7455:Kdm4b
|
UTSW |
17 |
56,703,657 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7457:Kdm4b
|
UTSW |
17 |
56,703,319 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8171:Kdm4b
|
UTSW |
17 |
56,696,534 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8367:Kdm4b
|
UTSW |
17 |
56,662,875 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8524:Kdm4b
|
UTSW |
17 |
56,706,384 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8810:Kdm4b
|
UTSW |
17 |
56,706,771 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9260:Kdm4b
|
UTSW |
17 |
56,701,775 (GRCm39) |
missense |
probably benign |
|
|
R9459:Kdm4b
|
UTSW |
17 |
56,706,509 (GRCm39) |
missense |
probably benign |
0.15 |
|
R9466:Kdm4b
|
UTSW |
17 |
56,696,548 (GRCm39) |
missense |
probably benign |
0.04 |
|
R9559:Kdm4b
|
UTSW |
17 |
56,693,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0024:Kdm4b
|
UTSW |
17 |
56,708,278 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCAAGGTGCTGAGCTGTATAC -3'
(R):5'- CTTGGTTCCTTCCTGACAGG -3'
Sequencing Primer
(F):5'- GGTGCTGAGCTGTATACCCTCAC -3'
(R):5'- AAGCTCTGCCATCACTCTAGGG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation