Incidental Mutation 'R7275:Kdm4b'
| ID |
565547 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm4b
|
| Ensembl Gene |
ENSMUSG00000024201 |
| Gene Name |
lysine (K)-specific demethylase 4B |
| Synonyms |
Jmjd2b, 4732474L06Rik |
| MMRRC Submission |
045358-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7275 (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 56703333 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Histidine
at position 676
(L676H)
|
| 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: L676H
PolyPhen 2
Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000025036
Gene: ENSMUSG00000024201
AA Change: L676H
| 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: L669H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000084045
Gene: ENSMUSG00000024201
AA Change: L669H
| 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: L133H
| 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: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
98% (64/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930447C04Rik |
T |
A |
12: 72,956,795 (GRCm39) |
T132S |
possibly damaging |
Het |
| 4933412E24Rik |
A |
G |
15: 59,887,738 (GRCm39) |
V234A |
probably benign |
Het |
| Abtb3 |
T |
A |
10: 85,490,346 (GRCm39) |
L1004Q |
probably damaging |
Het |
| Acsm5 |
A |
G |
7: 119,136,511 (GRCm39) |
T361A |
possibly damaging |
Het |
| Agxt2 |
G |
A |
15: 10,358,753 (GRCm39) |
R24H |
probably benign |
Het |
| Asb16 |
G |
T |
11: 102,159,935 (GRCm39) |
W96L |
probably damaging |
Het |
| Bche |
T |
A |
3: 73,607,969 (GRCm39) |
T486S |
probably benign |
Het |
| Bpnt2 |
C |
A |
4: 4,792,962 (GRCm39) |
G48W |
probably damaging |
Het |
| Cast |
T |
C |
13: 74,875,453 (GRCm39) |
T382A |
probably benign |
Het |
| Cdcp1 |
T |
A |
9: 123,014,119 (GRCm39) |
K218N |
possibly damaging |
Het |
| Ceacam18 |
G |
A |
7: 43,291,308 (GRCm39) |
G250D |
probably damaging |
Het |
| Ciao3 |
T |
A |
17: 25,994,108 (GRCm39) |
V52E |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,905,855 (GRCm39) |
I834T |
possibly damaging |
Het |
| Cyp11b2 |
C |
A |
15: 74,725,840 (GRCm39) |
G136W |
probably damaging |
Het |
| Dis3 |
A |
G |
14: 99,324,925 (GRCm39) |
V502A |
probably damaging |
Het |
| Dnai2 |
T |
A |
11: 114,648,054 (GRCm39) |
M610K |
unknown |
Het |
| Drosha |
G |
A |
15: 12,846,169 (GRCm39) |
V435I |
possibly damaging |
Het |
| Dsc2 |
T |
A |
18: 20,184,236 (GRCm39) |
R51* |
probably null |
Het |
| Ergic2 |
A |
T |
6: 148,096,757 (GRCm39) |
C170S |
probably damaging |
Het |
| Exoc7 |
A |
T |
11: 116,195,688 (GRCm39) |
|
probably null |
Het |
| Fbxw25 |
G |
T |
9: 109,483,660 (GRCm39) |
A184E |
|
Het |
| Gm4846 |
T |
A |
1: 166,314,648 (GRCm39) |
T332S |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,544,561 (GRCm39) |
M1385K |
probably benign |
Het |
| Grik1 |
T |
C |
16: 87,709,708 (GRCm39) |
N871S |
probably benign |
Het |
| Il11ra1 |
T |
C |
4: 41,765,109 (GRCm39) |
L145P |
probably damaging |
Het |
| Inpp5e |
A |
G |
2: 26,298,104 (GRCm39) |
S166P |
probably benign |
Het |
| Lrp2 |
T |
A |
2: 69,289,875 (GRCm39) |
K3655* |
probably null |
Het |
| Lrrc74a |
A |
G |
12: 86,787,753 (GRCm39) |
N128S |
probably damaging |
Het |
| Map3k14 |
T |
C |
11: 103,117,848 (GRCm39) |
E648G |
probably damaging |
Het |
| Mbtps1 |
A |
T |
8: 120,269,489 (GRCm39) |
D200E |
probably benign |
Het |
| Mttp |
T |
C |
3: 137,829,546 (GRCm39) |
D114G |
probably benign |
Het |
| Mup13 |
G |
A |
4: 61,182,752 (GRCm39) |
T101M |
probably benign |
Het |
| Neb |
T |
A |
2: 52,096,956 (GRCm39) |
T4953S |
probably benign |
Het |
| Nfasc |
A |
C |
1: 132,562,001 (GRCm39) |
L147R |
probably damaging |
Het |
| Obox6 |
T |
C |
7: 15,567,805 (GRCm39) |
E214G |
probably benign |
Het |
| Opn3 |
T |
C |
1: 175,493,039 (GRCm39) |
N175S |
probably damaging |
Het |
| Or1j12 |
A |
T |
2: 36,342,851 (GRCm39) |
M85L |
probably benign |
Het |
| Or8g22 |
T |
A |
9: 38,958,815 (GRCm39) |
|
probably benign |
Het |
| Or8k22 |
C |
A |
2: 86,163,136 (GRCm39) |
C188F |
possibly damaging |
Het |
| Osbpl3 |
G |
T |
6: 50,323,410 (GRCm39) |
D224E |
probably benign |
Het |
| Osr2 |
A |
G |
15: 35,301,032 (GRCm39) |
D196G |
probably damaging |
Het |
| Pde8b |
T |
A |
13: 95,179,442 (GRCm39) |
N405Y |
probably damaging |
Het |
| Pirb |
A |
G |
7: 3,719,177 (GRCm39) |
S571P |
probably benign |
Het |
| Psmc3 |
T |
A |
2: 90,886,275 (GRCm39) |
I163N |
probably damaging |
Het |
| Rapgef4 |
A |
G |
2: 72,038,445 (GRCm39) |
D532G |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,971,684 (GRCm39) |
D208G |
probably benign |
Het |
| Rgsl1 |
T |
G |
1: 153,679,876 (GRCm39) |
|
probably null |
Het |
| Ripk4 |
T |
C |
16: 97,545,157 (GRCm39) |
T497A |
probably benign |
Het |
| Slc30a2 |
T |
A |
4: 134,076,581 (GRCm39) |
|
probably null |
Het |
| Slc6a19 |
T |
C |
13: 73,834,197 (GRCm39) |
D335G |
probably benign |
Het |
| Slco4c1 |
G |
A |
1: 96,799,497 (GRCm39) |
T113M |
probably benign |
Het |
| Speer1c |
T |
C |
5: 10,295,192 (GRCm39) |
N71D |
|
Het |
| Stxbp6 |
A |
G |
12: 44,948,786 (GRCm39) |
F108L |
probably benign |
Het |
| Sulf1 |
T |
A |
1: 12,921,189 (GRCm39) |
|
probably null |
Het |
| Syt16 |
C |
T |
12: 74,313,483 (GRCm39) |
R470C |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,029,618 (GRCm39) |
D326E |
probably damaging |
Het |
| Trappc14 |
T |
C |
5: 138,261,839 (GRCm39) |
S86G |
probably benign |
Het |
| Trgv3 |
A |
G |
13: 19,427,188 (GRCm39) |
T24A |
probably benign |
Het |
| Trpm3 |
T |
A |
19: 22,956,048 (GRCm39) |
M1170K |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 88,987,146 (GRCm39) |
Q1276* |
probably null |
Het |
| Tyrp1 |
A |
G |
4: 80,755,821 (GRCm39) |
K197E |
possibly damaging |
Het |
| Ube3d |
T |
C |
9: 86,322,679 (GRCm39) |
D165G |
probably damaging |
Het |
| Zfp212 |
A |
G |
6: 47,897,678 (GRCm39) |
T7A |
probably benign |
Het |
| Zhx1 |
T |
C |
15: 57,917,758 (GRCm39) |
T163A |
probably benign |
Het |
| Zp2 |
A |
T |
7: 119,734,576 (GRCm39) |
|
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 |
|
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'- CTTTAGGCTCAGGGAGACTCAG -3'
(R):5'- CTGTCTGTACTGACTGCAGAG -3'
Sequencing Primer
(F):5'- TGCTGTGAAAGTGCCCAG -3'
(R):5'- TGCAGAGTCACAGCACTCAG -3'
|
| Posted On |
2019-06-26 |
Incidental Mutation