Incidental Mutation 'R7457:Kdm4b'
| ID |
578229 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm4b
|
| Ensembl Gene |
ENSMUSG00000024201 |
| Gene Name |
lysine (K)-specific demethylase 4B |
| Synonyms |
Jmjd2b, 4732474L06Rik |
| MMRRC Submission |
045531-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7457 (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 A
at 56703319 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 671
(N671K)
|
| 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: N671K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: N671K
| 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: N664K
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: N664K
| 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 |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000116789
Gene: ENSMUSG00000024201
AA Change: N128K
| Domain | Start | End | E-Value | Type |
|---|
|
PHD
|
177 |
235 |
2.5e-5 |
SMART |
|
PHD
|
297 |
353 |
7.07e-5 |
SMART |
|
TUDOR
|
363 |
420 |
1.68e-9 |
SMART |
|
TUDOR
|
421 |
477 |
7.94e-11 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
100% (61/61) |
| 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: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,374,635 (GRCm39) |
H452Q |
probably damaging |
Het |
| Adcy8 |
A |
T |
15: 64,792,529 (GRCm39) |
N142K |
possibly damaging |
Het |
| Alkbh8 |
T |
A |
9: 3,343,056 (GRCm39) |
S57R |
probably damaging |
Het |
| Atp4a |
A |
G |
7: 30,420,192 (GRCm39) |
T780A |
probably benign |
Het |
| Atp9b |
A |
T |
18: 80,960,833 (GRCm39) |
|
probably null |
Het |
| Cdyl2 |
A |
T |
8: 117,305,935 (GRCm39) |
V442E |
probably damaging |
Het |
| Ces2a |
C |
T |
8: 105,464,021 (GRCm39) |
R218C |
possibly damaging |
Het |
| Cfap57 |
A |
T |
4: 118,446,198 (GRCm39) |
V688E |
probably damaging |
Het |
| Clec11a |
T |
C |
7: 43,955,379 (GRCm39) |
T139A |
probably benign |
Het |
| Clstn1 |
A |
T |
4: 149,719,373 (GRCm39) |
T411S |
probably benign |
Het |
| Commd5 |
A |
T |
15: 76,784,824 (GRCm39) |
S74C |
probably damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,041,560 (GRCm39) |
P368Q |
probably damaging |
Het |
| Dennd4b |
A |
G |
3: 90,176,622 (GRCm39) |
M309V |
probably benign |
Het |
| Dhrs9 |
T |
A |
2: 69,231,611 (GRCm39) |
V257E |
probably benign |
Het |
| Dhx16 |
T |
C |
17: 36,201,952 (GRCm39) |
V993A |
probably damaging |
Het |
| Dok5 |
A |
T |
2: 170,712,735 (GRCm39) |
Q247L |
probably benign |
Het |
| E330034G19Rik |
A |
T |
14: 24,359,582 (GRCm39) |
E331V |
unknown |
Het |
| Efs |
A |
G |
14: 55,157,451 (GRCm39) |
S287P |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,193,667 (GRCm39) |
N1384S |
possibly damaging |
Het |
| Flt4 |
A |
G |
11: 49,521,155 (GRCm39) |
E388G |
possibly damaging |
Het |
| Fmn2 |
T |
A |
1: 174,331,303 (GRCm39) |
|
probably null |
Het |
| Fmo4 |
T |
C |
1: 162,621,672 (GRCm39) |
Y513C |
probably benign |
Het |
| Gbp4 |
T |
C |
5: 105,267,419 (GRCm39) |
E500G |
probably damaging |
Het |
| Gm29106 |
T |
C |
1: 118,126,982 (GRCm39) |
S225P |
probably damaging |
Het |
| Gstt2 |
G |
A |
10: 75,668,354 (GRCm39) |
R134W |
probably damaging |
Het |
| Gucy1b2 |
T |
C |
14: 62,630,401 (GRCm39) |
T782A |
probably benign |
Het |
| Gzf1 |
G |
T |
2: 148,532,002 (GRCm39) |
R543L |
probably damaging |
Het |
| H2-Eb2 |
G |
A |
17: 34,553,321 (GRCm39) |
G169E |
probably damaging |
Het |
| Hdhd3 |
T |
A |
4: 62,418,027 (GRCm39) |
R50W |
probably damaging |
Het |
| Hdlbp |
T |
C |
1: 93,355,944 (GRCm39) |
K407E |
probably benign |
Het |
| Isl2 |
A |
G |
9: 55,452,240 (GRCm39) |
T271A |
probably benign |
Het |
| Kbtbd7 |
GTCTCTC |
GTC |
14: 79,665,364 (GRCm39) |
|
probably null |
Het |
| Lats1 |
T |
A |
10: 7,586,655 (GRCm39) |
L939H |
probably damaging |
Het |
| Map3k1 |
A |
T |
13: 111,892,789 (GRCm39) |
M822K |
probably damaging |
Het |
| Mettl18 |
C |
A |
1: 163,824,330 (GRCm39) |
T217N |
probably damaging |
Het |
| Nav3 |
A |
T |
10: 109,532,189 (GRCm39) |
Y2083* |
probably null |
Het |
| Nckap1l |
T |
C |
15: 103,362,233 (GRCm39) |
|
probably benign |
Het |
| Nkx2-3 |
A |
G |
19: 43,600,986 (GRCm39) |
D16G |
probably damaging |
Het |
| Nlrx1 |
A |
G |
9: 44,167,807 (GRCm39) |
S697P |
probably benign |
Het |
| Or14j4 |
T |
C |
17: 37,921,456 (GRCm39) |
K62R |
possibly damaging |
Het |
| Or1e29 |
G |
C |
11: 73,667,652 (GRCm39) |
S167C |
probably benign |
Het |
| Or4k6 |
A |
T |
14: 50,475,825 (GRCm39) |
N172K |
probably damaging |
Het |
| Or6c75 |
T |
C |
10: 129,337,575 (GRCm39) |
V266A |
probably damaging |
Het |
| Pappa |
A |
T |
4: 65,107,503 (GRCm39) |
D638V |
probably damaging |
Het |
| Pot1a |
T |
C |
6: 25,771,621 (GRCm39) |
D200G |
probably benign |
Het |
| Ptprs |
G |
T |
17: 56,726,502 (GRCm39) |
T1366K |
probably damaging |
Het |
| Sass6 |
A |
T |
3: 116,413,813 (GRCm39) |
R505S |
probably benign |
Het |
| Slc30a6 |
T |
C |
17: 74,714,233 (GRCm39) |
I84T |
probably benign |
Het |
| Sox10 |
A |
T |
15: 79,040,339 (GRCm39) |
F400L |
probably benign |
Het |
| Spata31d1b |
A |
T |
13: 59,864,723 (GRCm39) |
I624F |
probably damaging |
Het |
| Stpg4 |
A |
G |
17: 87,735,006 (GRCm39) |
|
probably null |
Het |
| Tbc1d9 |
G |
T |
8: 83,963,309 (GRCm39) |
K340N |
probably damaging |
Het |
| Tspan12 |
T |
A |
6: 21,772,682 (GRCm39) |
H289L |
probably benign |
Het |
| Ubr1 |
T |
A |
2: 120,748,309 (GRCm39) |
T809S |
probably benign |
Het |
| Vmn1r43 |
C |
T |
6: 89,847,172 (GRCm39) |
V105M |
probably damaging |
Het |
| Vmn1r49 |
A |
G |
6: 90,049,534 (GRCm39) |
V156A |
probably benign |
Het |
| Wnt5a |
A |
G |
14: 28,240,236 (GRCm39) |
|
probably null |
Het |
| Wwp2 |
T |
A |
8: 108,244,592 (GRCm39) |
S255T |
probably benign |
Het |
| Zbtb10 |
A |
G |
3: 9,316,538 (GRCm39) |
T117A |
possibly damaging |
Het |
| Zfp800 |
C |
T |
6: 28,244,228 (GRCm39) |
V246I |
probably benign |
Het |
| Zfp955a |
G |
T |
17: 33,463,025 (GRCm39) |
Y35* |
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 |
|
R7230:Kdm4b
|
UTSW |
17 |
56,676,155 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
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'- CTTTAGGCTCAGGGAGACTCAG -3'
(R):5'- TCTGTCTGTACTGACTGCAGAG -3'
Sequencing Primer
(F):5'- TGCTGTGAAAGTGCCCAG -3'
(R):5'- TGCAGAGTCACAGCACTCAG -3'
|
| Posted On |
2019-10-07 |
Incidental Mutation