Incidental Mutation 'IGL01063:Kdm7a'
ID |
51232 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kdm7a
|
Ensembl Gene |
ENSMUSG00000042599 |
Gene Name |
lysine (K)-specific demethylase 7A |
Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL01063
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 39142064 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 405
(F405L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
AlphaFold |
Q3UWM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002305
AA Change: F405L
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000002305 Gene: ENSMUSG00000042599 AA Change: F405L
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 |
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1110038F14Rik |
G |
A |
15: 76,834,475 (GRCm39) |
V124I |
probably damaging |
Het |
4930444P10Rik |
A |
T |
1: 16,148,870 (GRCm39) |
L61* |
probably null |
Het |
Abca7 |
T |
C |
10: 79,847,131 (GRCm39) |
I1705T |
probably damaging |
Het |
Ablim1 |
T |
A |
19: 57,049,760 (GRCm39) |
I393F |
probably damaging |
Het |
Adamts5 |
A |
G |
16: 85,696,722 (GRCm39) |
L145P |
probably damaging |
Het |
Ano6 |
T |
C |
15: 95,846,310 (GRCm39) |
I537T |
probably damaging |
Het |
AU018091 |
T |
C |
7: 3,212,153 (GRCm39) |
I190V |
possibly damaging |
Het |
Camk1 |
T |
A |
6: 113,315,333 (GRCm39) |
D155V |
probably damaging |
Het |
Cdh6 |
A |
C |
15: 13,064,581 (GRCm39) |
I103S |
probably damaging |
Het |
Cntnap1 |
A |
G |
11: 101,072,614 (GRCm39) |
D537G |
probably benign |
Het |
Col6a3 |
T |
C |
1: 90,730,054 (GRCm39) |
K1144E |
probably damaging |
Het |
Cpeb1 |
T |
A |
7: 81,021,929 (GRCm39) |
E71D |
probably benign |
Het |
Cps1 |
T |
C |
1: 67,234,325 (GRCm39) |
L904P |
possibly damaging |
Het |
Cyfip1 |
T |
A |
7: 55,553,958 (GRCm39) |
F700I |
probably damaging |
Het |
Dmp1 |
G |
A |
5: 104,354,965 (GRCm39) |
M1I |
probably null |
Het |
Efcab6 |
A |
T |
15: 83,938,713 (GRCm39) |
M1K |
probably null |
Het |
Extl2 |
A |
T |
3: 115,821,131 (GRCm39) |
H312L |
possibly damaging |
Het |
Fat4 |
C |
A |
3: 38,944,728 (GRCm39) |
A1207D |
possibly damaging |
Het |
Flnb |
T |
C |
14: 7,926,518 (GRCm38) |
|
probably benign |
Het |
Hdac10 |
G |
T |
15: 89,008,071 (GRCm39) |
A593E |
possibly damaging |
Het |
Hdhd2 |
T |
C |
18: 77,052,969 (GRCm39) |
|
probably null |
Het |
Kcnq2 |
A |
G |
2: 180,751,582 (GRCm39) |
|
probably benign |
Het |
Lypd6b |
C |
A |
2: 49,833,642 (GRCm39) |
|
probably benign |
Het |
Mki67 |
A |
T |
7: 135,296,651 (GRCm39) |
D2794E |
possibly damaging |
Het |
Mtmr14 |
T |
A |
6: 113,243,287 (GRCm39) |
F40I |
probably damaging |
Het |
Or2y3 |
G |
T |
17: 38,393,544 (GRCm39) |
S108R |
possibly damaging |
Het |
Or5p55 |
A |
T |
7: 107,566,741 (GRCm39) |
I46F |
probably damaging |
Het |
Or6d13 |
T |
A |
6: 116,517,968 (GRCm39) |
C185S |
probably damaging |
Het |
Or6x1 |
A |
T |
9: 40,099,052 (GRCm39) |
I214F |
probably benign |
Het |
Ppargc1a |
C |
A |
5: 51,631,664 (GRCm39) |
V322L |
probably benign |
Het |
Ppfibp1 |
T |
A |
6: 146,931,195 (GRCm39) |
M917K |
probably benign |
Het |
Prkg2 |
C |
T |
5: 99,117,795 (GRCm39) |
|
probably null |
Het |
Rfx4 |
A |
G |
10: 84,704,246 (GRCm39) |
E296G |
possibly damaging |
Het |
Rfx8 |
T |
A |
1: 39,722,110 (GRCm39) |
K292* |
probably null |
Het |
Scamp3 |
C |
A |
3: 89,084,973 (GRCm39) |
|
probably benign |
Het |
Scn4a |
A |
T |
11: 106,221,190 (GRCm39) |
I823N |
possibly damaging |
Het |
Sdk2 |
A |
G |
11: 113,721,668 (GRCm39) |
V1316A |
probably damaging |
Het |
Setd2 |
T |
C |
9: 110,402,741 (GRCm39) |
V1794A |
probably damaging |
Het |
Stard8 |
G |
T |
X: 98,116,694 (GRCm39) |
R983L |
probably damaging |
Het |
Tbc1d23 |
A |
T |
16: 57,013,038 (GRCm39) |
D311E |
probably benign |
Het |
Tex21 |
T |
C |
12: 76,245,592 (GRCm39) |
H568R |
probably benign |
Het |
Tex35 |
T |
C |
1: 156,932,667 (GRCm39) |
|
probably benign |
Het |
Tgs1 |
T |
A |
4: 3,591,292 (GRCm39) |
F442I |
possibly damaging |
Het |
Traf2 |
C |
A |
2: 25,414,931 (GRCm39) |
C303F |
probably benign |
Het |
Trim56 |
A |
T |
5: 137,143,354 (GRCm39) |
V54D |
possibly damaging |
Het |
Yars2 |
C |
T |
16: 16,124,406 (GRCm39) |
R338* |
probably null |
Het |
Zfp668 |
A |
T |
7: 127,465,454 (GRCm39) |
C577S |
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 |
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 |
R4184:Kdm7a
|
UTSW |
6 |
39,125,911 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2013-06-21 |