Incidental Mutation 'R6771:Kdm4b'
ID |
532186 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kdm4b
|
Ensembl Gene |
ENSMUSG00000024201 |
Gene Name |
lysine (K)-specific demethylase 4B |
Synonyms |
Jmjd2b, 4732474L06Rik |
MMRRC Submission |
044887-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6771 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
17 |
Chromosomal Location |
56633062-56709870 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 56658754 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Valine
at position 33
(A33V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000025036
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025036]
[ENSMUST00000086835]
[ENSMUST00000139679]
|
AlphaFold |
Q91VY5 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000025036
AA Change: A33V
PolyPhen 2
Score 0.537 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000025036 Gene: ENSMUSG00000024201 AA Change: A33V
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 benign
Transcript: ENSMUST00000086835
AA Change: A33V
PolyPhen 2
Score 0.361 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000084045 Gene: ENSMUSG00000024201 AA Change: A33V
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 |
probably benign
Transcript: ENSMUST00000139679
AA Change: A33V
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000118089 Gene: ENSMUSG00000024201 AA Change: A33V
Domain | Start | End | E-Value | Type |
JmjN
|
14 |
56 |
5.88e-17 |
SMART |
low complexity region
|
61 |
68 |
N/A |
INTRINSIC |
Pfam:JmjC
|
176 |
208 |
5.8e-13 |
PFAM |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.7%
- 20x: 96.3%
|
Validation Efficiency |
95% (37/39) |
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abhd8 |
G |
T |
8: 71,914,105 (GRCm39) |
H174Q |
probably damaging |
Het |
Apoa4 |
G |
A |
9: 46,154,465 (GRCm39) |
M355I |
probably benign |
Het |
Apol8 |
A |
T |
15: 77,637,258 (GRCm39) |
|
probably null |
Het |
Arvcf |
A |
G |
16: 18,222,614 (GRCm39) |
T792A |
probably benign |
Het |
Atp10b |
T |
C |
11: 43,094,079 (GRCm39) |
|
probably null |
Het |
Atp9a |
A |
T |
2: 168,516,820 (GRCm39) |
Y340N |
probably damaging |
Het |
C1rb |
T |
G |
6: 124,554,364 (GRCm39) |
S382A |
probably benign |
Het |
Clmn |
A |
G |
12: 104,740,041 (GRCm39) |
V962A |
probably benign |
Het |
Csmd1 |
A |
G |
8: 16,121,408 (GRCm39) |
V1763A |
possibly damaging |
Het |
Ctnnd1 |
A |
T |
2: 84,450,454 (GRCm39) |
D255E |
probably damaging |
Het |
Ctnnd1 |
C |
A |
2: 84,450,269 (GRCm39) |
R317L |
probably damaging |
Het |
Cyb5a |
T |
A |
18: 84,889,755 (GRCm39) |
H61Q |
probably damaging |
Het |
Dipk1b |
A |
G |
2: 26,524,875 (GRCm39) |
R92G |
probably benign |
Het |
Dmxl2 |
A |
T |
9: 54,323,808 (GRCm39) |
I1192N |
probably damaging |
Het |
Flg |
T |
C |
3: 93,195,630 (GRCm39) |
|
probably benign |
Het |
Fras1 |
A |
G |
5: 96,746,800 (GRCm39) |
I623M |
possibly damaging |
Het |
Ftsj3 |
T |
C |
11: 106,140,366 (GRCm39) |
K801E |
probably damaging |
Het |
Gpr35 |
T |
A |
1: 92,910,426 (GRCm39) |
M46K |
probably damaging |
Het |
Ighv2-9 |
T |
G |
12: 113,842,807 (GRCm39) |
S87R |
probably damaging |
Het |
Klhl5 |
T |
A |
5: 65,321,995 (GRCm39) |
Y534N |
probably damaging |
Het |
Marchf8 |
T |
C |
6: 116,379,004 (GRCm39) |
S313P |
probably benign |
Het |
Mccc1 |
C |
T |
3: 36,043,992 (GRCm39) |
|
probably null |
Het |
Memo1 |
A |
T |
17: 74,508,273 (GRCm39) |
F270L |
probably damaging |
Het |
Nxpe3 |
C |
A |
16: 55,686,471 (GRCm39) |
G179V |
probably damaging |
Het |
Or4k15c |
C |
A |
14: 50,321,446 (GRCm39) |
A231S |
probably damaging |
Het |
Or5b120 |
T |
A |
19: 13,480,318 (GRCm39) |
F204I |
possibly damaging |
Het |
Or7g35 |
C |
T |
9: 19,496,675 (GRCm39) |
L281F |
probably benign |
Het |
Otp |
A |
G |
13: 95,012,294 (GRCm39) |
D6G |
probably damaging |
Het |
Ptpn4 |
T |
A |
1: 119,643,698 (GRCm39) |
N350I |
probably benign |
Het |
Pwp2 |
G |
A |
10: 78,018,222 (GRCm39) |
|
probably null |
Het |
Rassf10 |
A |
G |
7: 112,553,635 (GRCm39) |
M79V |
probably benign |
Het |
Rbm12 |
A |
T |
2: 155,939,375 (GRCm39) |
I299N |
possibly damaging |
Het |
Rsf1 |
GGCG |
GGCGACGGCTGCG |
7: 97,229,113 (GRCm39) |
|
probably benign |
Homo |
Scfd2 |
T |
C |
5: 74,692,117 (GRCm39) |
H55R |
probably benign |
Het |
Skic2 |
G |
A |
17: 35,064,166 (GRCm39) |
R507* |
probably null |
Het |
Sp110 |
C |
T |
1: 85,520,000 (GRCm39) |
|
probably null |
Het |
Syde2 |
G |
A |
3: 145,704,803 (GRCm39) |
G318E |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,538,883 (GRCm39) |
D34649V |
possibly damaging |
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 |
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 |
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'- ATTTCGTTGCCTCCAAGGG -3'
(R):5'- TGAAACCTGGACTCCATCAGC -3'
Sequencing Primer
(F):5'- CAAGGGAGGCTTGGAGGTG -3'
(R):5'- AGCTATTCTTAGAGCCCTGGATCAG -3'
|
Posted On |
2018-08-29 |