Incidental Mutation 'IGL02336:Kdm7a'
ID |
288858 |
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 # |
IGL02336
|
Quality Score |
|
Status
|
|
Chromosome |
6 |
Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 39147198 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 250
(W250R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
AlphaFold |
Q3UWM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002305
AA Change: W250R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002305 Gene: ENSMUSG00000042599 AA Change: W250R
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accsl |
A |
G |
2: 93,696,253 (GRCm39) |
V119A |
possibly damaging |
Het |
Adamts12 |
T |
A |
15: 11,311,331 (GRCm39) |
M1196K |
probably benign |
Het |
Adgre1 |
T |
A |
17: 57,718,024 (GRCm39) |
C345* |
probably null |
Het |
Adrb2 |
T |
C |
18: 62,312,078 (GRCm39) |
E249G |
probably benign |
Het |
Amdhd1 |
T |
A |
10: 93,360,291 (GRCm39) |
I423F |
probably benign |
Het |
Ankhd1 |
A |
G |
18: 36,727,867 (GRCm39) |
N501S |
probably damaging |
Het |
Bltp2 |
T |
C |
11: 78,179,858 (GRCm39) |
V2127A |
probably damaging |
Het |
Cd180 |
T |
A |
13: 102,841,821 (GRCm39) |
I289N |
probably damaging |
Het |
Chst5 |
T |
A |
8: 112,616,949 (GRCm39) |
I224F |
probably damaging |
Het |
Cox6a2 |
A |
G |
7: 127,805,103 (GRCm39) |
I60T |
possibly damaging |
Het |
Dnajc6 |
C |
T |
4: 101,471,483 (GRCm39) |
|
probably null |
Het |
Dpp6 |
G |
A |
5: 27,674,409 (GRCm39) |
E179K |
probably benign |
Het |
Fasn |
G |
A |
11: 120,704,562 (GRCm39) |
T1341I |
possibly damaging |
Het |
Fat1 |
C |
T |
8: 45,404,620 (GRCm39) |
T457I |
probably benign |
Het |
Filip1l |
A |
T |
16: 57,392,096 (GRCm39) |
|
probably null |
Het |
Gje1 |
A |
T |
10: 14,592,413 (GRCm39) |
I123N |
probably damaging |
Het |
Gli3 |
A |
G |
13: 15,894,874 (GRCm39) |
T683A |
probably damaging |
Het |
Gm29326 |
C |
A |
7: 29,260,833 (GRCm39) |
|
noncoding transcript |
Het |
Gm5460 |
A |
G |
14: 33,765,909 (GRCm39) |
|
probably benign |
Het |
Hspa4 |
C |
T |
11: 53,153,200 (GRCm39) |
S739N |
probably benign |
Het |
Ighv1-42 |
T |
A |
12: 114,900,885 (GRCm39) |
I67F |
probably damaging |
Het |
Iqgap1 |
A |
G |
7: 80,402,041 (GRCm39) |
V408A |
probably benign |
Het |
Kif5a |
A |
G |
10: 127,078,565 (GRCm39) |
I360T |
possibly damaging |
Het |
Maml1 |
T |
C |
11: 50,148,992 (GRCm39) |
N916S |
probably benign |
Het |
Mier2 |
A |
T |
10: 79,384,184 (GRCm39) |
|
probably benign |
Het |
Mpst |
A |
T |
15: 78,294,474 (GRCm39) |
T69S |
probably benign |
Het |
Nlk |
C |
A |
11: 78,477,763 (GRCm39) |
V327F |
probably damaging |
Het |
Nme5 |
A |
T |
18: 34,711,730 (GRCm39) |
S4T |
probably benign |
Het |
Notch2 |
A |
G |
3: 98,045,711 (GRCm39) |
I1625M |
possibly damaging |
Het |
Nup210l |
T |
C |
3: 90,088,859 (GRCm39) |
|
probably null |
Het |
Oas1d |
A |
G |
5: 121,057,111 (GRCm39) |
E239G |
probably damaging |
Het |
Olfm4 |
T |
C |
14: 80,243,761 (GRCm39) |
S110P |
probably damaging |
Het |
Or52e2 |
T |
C |
7: 102,804,772 (GRCm39) |
M61V |
probably benign |
Het |
Parn |
T |
A |
16: 13,384,567 (GRCm39) |
I499F |
probably damaging |
Het |
Ppargc1a |
G |
A |
5: 51,653,068 (GRCm39) |
Q165* |
probably null |
Het |
Ppp1r12b |
T |
A |
1: 134,814,244 (GRCm39) |
E353V |
probably damaging |
Het |
Prkdc |
A |
G |
16: 15,603,842 (GRCm39) |
Q2952R |
possibly damaging |
Het |
Prkdc |
G |
T |
16: 15,603,843 (GRCm39) |
Q2952H |
probably benign |
Het |
Qars1 |
G |
T |
9: 108,392,185 (GRCm39) |
E143* |
probably null |
Het |
Reln |
A |
G |
5: 22,134,132 (GRCm39) |
Y2599H |
probably damaging |
Het |
Rnf123 |
T |
C |
9: 107,939,041 (GRCm39) |
E803G |
probably damaging |
Het |
Rnf141 |
G |
A |
7: 110,436,405 (GRCm39) |
Q8* |
probably null |
Het |
Rnf167 |
A |
G |
11: 70,540,952 (GRCm39) |
I193V |
probably benign |
Het |
Rprd2 |
A |
T |
3: 95,694,622 (GRCm39) |
M137K |
probably benign |
Het |
Rtf1 |
T |
G |
2: 119,559,226 (GRCm39) |
|
probably benign |
Het |
Serpina1d |
T |
A |
12: 103,731,055 (GRCm39) |
R308* |
probably null |
Het |
Smg7 |
T |
C |
1: 152,719,030 (GRCm39) |
Y899C |
probably benign |
Het |
Tbr1 |
C |
A |
2: 61,635,336 (GRCm39) |
H95Q |
possibly damaging |
Het |
Tcf19 |
A |
T |
17: 35,825,380 (GRCm39) |
|
probably null |
Het |
Timm44 |
T |
A |
8: 4,317,692 (GRCm39) |
R210W |
probably damaging |
Het |
Trnau1ap |
C |
A |
4: 132,041,331 (GRCm39) |
E194* |
probably null |
Het |
Trp63 |
G |
A |
16: 25,639,192 (GRCm39) |
G127S |
probably damaging |
Het |
Trrap |
C |
T |
5: 144,735,200 (GRCm39) |
A989V |
probably benign |
Het |
Ttn |
T |
C |
2: 76,600,326 (GRCm39) |
D18988G |
probably damaging |
Het |
Tubb4b-ps1 |
T |
A |
5: 7,229,952 (GRCm39) |
|
probably benign |
Het |
Vmn1r77 |
G |
A |
7: 11,775,223 (GRCm39) |
|
probably null |
Het |
Vmn1r80 |
A |
G |
7: 11,927,181 (GRCm39) |
Y97C |
probably benign |
Het |
Vmn2r77 |
G |
A |
7: 86,451,224 (GRCm39) |
C370Y |
probably damaging |
Het |
Xntrpc |
C |
A |
7: 101,733,492 (GRCm39) |
A147D |
probably damaging |
Het |
Zc3h4 |
C |
T |
7: 16,159,702 (GRCm39) |
S424F |
unknown |
Het |
Zcwpw1 |
T |
A |
5: 137,808,376 (GRCm39) |
S275T |
probably damaging |
Het |
Zfp979 |
C |
T |
4: 147,699,808 (GRCm39) |
C44Y |
probably damaging |
Het |
Zscan20 |
T |
C |
4: 128,479,587 (GRCm39) |
H968R |
probably damaging |
Het |
Zswim3 |
T |
C |
2: 164,662,297 (GRCm39) |
V259A |
probably damaging |
Het |
Zzz3 |
T |
G |
3: 152,133,696 (GRCm39) |
D251E |
possibly 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 |
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 |
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 |
2015-04-16 |