Incidental Mutation 'IGL01325:Kdm7a'
ID |
74244 |
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 # |
IGL01325
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to G
at 39135243 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
AlphaFold |
Q3UWM4 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000002305
|
SMART Domains |
Protein: ENSMUSP00000002305 Gene: ENSMUSG00000042599
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 |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127036
|
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: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4930486L24Rik |
T |
C |
13: 61,001,347 (GRCm39) |
T127A |
probably damaging |
Het |
Acrv1 |
T |
A |
9: 36,609,810 (GRCm39) |
M227K |
probably benign |
Het |
Adam22 |
T |
C |
5: 8,177,333 (GRCm39) |
N592S |
probably benign |
Het |
Adamts15 |
T |
A |
9: 30,832,984 (GRCm39) |
I184F |
possibly damaging |
Het |
Adcy1 |
T |
C |
11: 7,014,102 (GRCm39) |
V168A |
possibly damaging |
Het |
Arl6ip5 |
T |
C |
6: 97,209,501 (GRCm39) |
F179L |
probably benign |
Het |
Asxl2 |
G |
T |
12: 3,477,172 (GRCm39) |
R6L |
probably damaging |
Het |
Btaf1 |
T |
A |
19: 36,982,049 (GRCm39) |
|
probably benign |
Het |
Ccdc136 |
T |
C |
6: 29,412,949 (GRCm39) |
F445L |
probably benign |
Het |
Cpne3 |
T |
C |
4: 19,535,229 (GRCm39) |
S268G |
probably benign |
Het |
Crtc3 |
C |
T |
7: 80,327,116 (GRCm39) |
R70Q |
probably damaging |
Het |
Fam169a |
C |
A |
13: 97,259,207 (GRCm39) |
A421E |
probably benign |
Het |
Fhod1 |
A |
T |
8: 106,058,281 (GRCm39) |
M825K |
probably benign |
Het |
Gjb2 |
T |
C |
14: 57,337,678 (GRCm39) |
T177A |
probably benign |
Het |
Gm6576 |
A |
G |
15: 27,025,970 (GRCm39) |
|
noncoding transcript |
Het |
Herpud2 |
A |
G |
9: 25,025,207 (GRCm39) |
V175A |
probably benign |
Het |
Hmgxb3 |
T |
C |
18: 61,267,078 (GRCm39) |
D1052G |
probably damaging |
Het |
Itpr1 |
T |
A |
6: 108,358,169 (GRCm39) |
F578L |
probably benign |
Het |
Krt76 |
A |
T |
15: 101,793,323 (GRCm39) |
S572T |
unknown |
Het |
Lrrcc1 |
T |
C |
3: 14,601,601 (GRCm39) |
|
probably null |
Het |
Marchf9 |
A |
C |
10: 126,893,459 (GRCm39) |
V183G |
probably damaging |
Het |
Mrtfb |
T |
C |
16: 13,219,088 (GRCm39) |
V578A |
probably damaging |
Het |
Ndufaf6 |
A |
T |
4: 11,070,251 (GRCm39) |
D123E |
probably benign |
Het |
Nhlh2 |
T |
G |
3: 101,920,342 (GRCm39) |
Y125D |
probably damaging |
Het |
Nol4l |
A |
G |
2: 153,278,271 (GRCm39) |
|
probably benign |
Het |
Npas1 |
C |
T |
7: 16,197,247 (GRCm39) |
G206D |
probably benign |
Het |
Or52h9 |
T |
C |
7: 104,202,896 (GRCm39) |
F257L |
probably damaging |
Het |
Or5ak24 |
C |
A |
2: 85,260,639 (GRCm39) |
C178F |
possibly damaging |
Het |
Pcdhb4 |
T |
A |
18: 37,442,676 (GRCm39) |
V662E |
probably damaging |
Het |
Plxna3 |
G |
A |
X: 73,379,400 (GRCm39) |
G758S |
probably damaging |
Het |
Prdm15 |
T |
A |
16: 97,607,717 (GRCm39) |
N709Y |
probably damaging |
Het |
Pygo2 |
C |
T |
3: 89,339,753 (GRCm39) |
|
probably benign |
Het |
Ranbp2 |
T |
A |
10: 58,312,120 (GRCm39) |
S947T |
probably damaging |
Het |
Rasgrp1 |
T |
A |
2: 117,129,010 (GRCm39) |
H203L |
probably damaging |
Het |
Rbbp6 |
G |
A |
7: 122,587,841 (GRCm39) |
G270R |
probably damaging |
Het |
Rcl1 |
A |
G |
19: 29,098,662 (GRCm39) |
|
probably null |
Het |
Rpl23a-ps1 |
T |
C |
1: 46,020,793 (GRCm39) |
|
noncoding transcript |
Het |
Serpinb7 |
T |
G |
1: 107,363,110 (GRCm39) |
H91Q |
probably damaging |
Het |
Shd |
C |
T |
17: 56,279,839 (GRCm39) |
P111S |
possibly damaging |
Het |
Slc35e1 |
G |
T |
8: 73,237,602 (GRCm39) |
|
probably benign |
Het |
Srgap3 |
C |
T |
6: 112,752,647 (GRCm39) |
R279H |
probably damaging |
Het |
Sstr4 |
G |
A |
2: 148,237,472 (GRCm39) |
E28K |
probably benign |
Het |
Stip1 |
T |
C |
19: 6,998,464 (GRCm39) |
|
probably benign |
Het |
Syne2 |
A |
G |
12: 75,973,288 (GRCm39) |
E1097G |
probably benign |
Het |
Tbcd |
T |
A |
11: 121,431,819 (GRCm39) |
V489E |
probably damaging |
Het |
Tnks2 |
T |
A |
19: 36,849,033 (GRCm39) |
S516R |
probably benign |
Het |
Trmt44 |
T |
A |
5: 35,726,147 (GRCm39) |
R343S |
possibly damaging |
Het |
Trps1 |
A |
G |
15: 50,710,210 (GRCm39) |
S47P |
probably benign |
Het |
Ubr3 |
A |
C |
2: 69,747,441 (GRCm39) |
K235Q |
possibly damaging |
Het |
Uckl1 |
G |
A |
2: 181,216,754 (GRCm39) |
Q48* |
probably null |
Het |
Vat1 |
T |
C |
11: 101,356,541 (GRCm39) |
D140G |
probably benign |
Het |
Vmn2r80 |
A |
G |
10: 79,030,081 (GRCm39) |
T636A |
possibly damaging |
Het |
Zfp423 |
A |
T |
8: 88,508,239 (GRCm39) |
|
probably null |
Het |
Zfp667 |
C |
A |
7: 6,293,545 (GRCm39) |
T15N |
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 |
IGL01063:Kdm7a
|
APN |
6 |
39,142,064 (GRCm39) |
missense |
probably damaging |
0.98 |
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 |
2013-10-07 |