Incidental Mutation 'IGL03165:Kdm7a'
| ID |
411611 |
| 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 # |
IGL03165
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 39147848 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 |
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb3 |
T |
C |
1: 25,133,475 (GRCm39) |
I334V |
probably benign |
Het |
| Axdnd1 |
T |
A |
1: 156,205,959 (GRCm39) |
Y519F |
probably benign |
Het |
| C4b |
A |
G |
17: 34,958,929 (GRCm39) |
F500S |
probably benign |
Het |
| Cacng2 |
A |
T |
15: 77,879,863 (GRCm39) |
I153N |
possibly damaging |
Het |
| Ces1d |
T |
A |
8: 93,916,147 (GRCm39) |
H160L |
probably benign |
Het |
| Cnnm3 |
T |
G |
1: 36,564,313 (GRCm39) |
|
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,781,720 (GRCm39) |
T728A |
probably damaging |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,201 (GRCm39) |
V92M |
possibly damaging |
Het |
| Dock2 |
C |
A |
11: 34,578,360 (GRCm39) |
V35F |
probably damaging |
Het |
| Eif2a |
C |
A |
3: 58,456,049 (GRCm39) |
Y349* |
probably null |
Het |
| Erp44 |
C |
T |
4: 48,236,872 (GRCm39) |
|
probably null |
Het |
| Flg2 |
C |
T |
3: 93,121,918 (GRCm39) |
H1363Y |
unknown |
Het |
| Flnc |
G |
T |
6: 29,449,377 (GRCm39) |
G1425W |
probably damaging |
Het |
| Frem3 |
A |
G |
8: 81,339,158 (GRCm39) |
N484D |
probably benign |
Het |
| Fstl3 |
A |
G |
10: 79,615,799 (GRCm39) |
D95G |
probably benign |
Het |
| Gldc |
A |
G |
19: 30,076,393 (GRCm39) |
S1018P |
possibly damaging |
Het |
| Gstk1 |
T |
G |
6: 42,226,368 (GRCm39) |
I159S |
probably benign |
Het |
| Herc2 |
A |
G |
7: 55,841,660 (GRCm39) |
E3513G |
probably damaging |
Het |
| Hpca |
A |
T |
4: 129,012,383 (GRCm39) |
I51N |
probably damaging |
Het |
| Hsd17b7 |
C |
T |
1: 169,780,649 (GRCm39) |
E320K |
probably damaging |
Het |
| Igkv4-74 |
T |
C |
6: 69,162,289 (GRCm39) |
|
probably benign |
Het |
| Or1e23 |
A |
T |
11: 73,407,710 (GRCm39) |
L105* |
probably null |
Het |
| Or52z14 |
T |
C |
7: 103,253,218 (GRCm39) |
I119T |
probably damaging |
Het |
| Or5al6 |
A |
C |
2: 85,976,412 (GRCm39) |
L222R |
possibly damaging |
Het |
| Pa2g4 |
A |
T |
10: 128,394,929 (GRCm39) |
|
probably null |
Het |
| Pdlim3 |
T |
A |
8: 46,372,035 (GRCm39) |
L360Q |
possibly damaging |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Polk |
T |
A |
13: 96,653,196 (GRCm39) |
Q68L |
probably benign |
Het |
| Ppfia2 |
T |
G |
10: 106,603,348 (GRCm39) |
L195R |
probably damaging |
Het |
| Ranbp1 |
A |
T |
16: 18,065,145 (GRCm39) |
|
probably benign |
Het |
| Rbm12b1 |
A |
G |
4: 12,145,845 (GRCm39) |
R606G |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,804,465 (GRCm39) |
V488A |
probably benign |
Het |
| Sall2 |
A |
T |
14: 52,551,625 (GRCm39) |
D521E |
probably damaging |
Het |
| Sntg1 |
A |
T |
1: 8,515,328 (GRCm39) |
C402S |
probably damaging |
Het |
| Spg7 |
T |
C |
8: 123,807,551 (GRCm39) |
|
probably null |
Het |
| Stk31 |
G |
A |
6: 49,422,198 (GRCm39) |
E750K |
probably damaging |
Het |
| Tlr2 |
A |
G |
3: 83,745,255 (GRCm39) |
I276T |
probably benign |
Het |
| Trav12-2 |
A |
T |
14: 53,854,206 (GRCm39) |
H60L |
probably benign |
Het |
| Urb1 |
A |
G |
16: 90,577,192 (GRCm39) |
L775S |
probably damaging |
Het |
| Utp14b |
A |
G |
1: 78,642,237 (GRCm39) |
D45G |
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 |
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation