Incidental Mutation 'IGL01710:Kdm7a'
| ID |
104758 |
| 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 # |
IGL01710
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
6 |
| Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 39152320 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Aspartic acid
at position 125
(E125D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
| AlphaFold |
Q3UWM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002305
AA Change: E125D
PolyPhen 2
Score 0.063 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: E125D
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
G |
A |
18: 62,004,645 (GRCm39) |
T48I |
probably damaging |
Het |
| Ccpg1 |
T |
C |
9: 72,904,723 (GRCm39) |
|
probably benign |
Het |
| Chkb |
G |
A |
15: 89,310,843 (GRCm39) |
Q379* |
probably null |
Het |
| Chst15 |
T |
A |
7: 131,872,236 (GRCm39) |
D15V |
probably benign |
Het |
| Cntn4 |
G |
A |
6: 106,527,392 (GRCm39) |
V425I |
possibly damaging |
Het |
| Cpa6 |
T |
A |
1: 10,395,497 (GRCm39) |
N390I |
probably damaging |
Het |
| Efhd2 |
A |
G |
4: 141,587,872 (GRCm39) |
F193S |
probably damaging |
Het |
| Ell3 |
T |
C |
2: 121,271,993 (GRCm39) |
H128R |
probably damaging |
Het |
| Ercc5 |
T |
G |
1: 44,203,235 (GRCm39) |
L291V |
probably damaging |
Het |
| Eva1c |
A |
G |
16: 90,701,235 (GRCm39) |
Y302C |
probably damaging |
Het |
| Fmo3 |
A |
C |
1: 162,810,612 (GRCm39) |
L26R |
probably damaging |
Het |
| Galntl6 |
T |
A |
8: 58,989,002 (GRCm39) |
D17V |
probably damaging |
Het |
| Gm6483 |
C |
T |
8: 19,741,629 (GRCm39) |
P55S |
probably damaging |
Het |
| Gstt2 |
A |
G |
10: 75,669,579 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
A |
2: 31,233,114 (GRCm39) |
L221Q |
probably damaging |
Het |
| Hoxa3 |
T |
C |
6: 52,147,554 (GRCm39) |
|
probably benign |
Het |
| Kctd12b |
T |
C |
X: 152,472,479 (GRCm39) |
D70G |
probably damaging |
Het |
| Klk1b21 |
T |
A |
7: 43,755,919 (GRCm39) |
F249L |
probably benign |
Het |
| Mrpl41 |
T |
C |
2: 24,864,429 (GRCm39) |
D81G |
possibly damaging |
Het |
| Nomo1 |
T |
A |
7: 45,687,980 (GRCm39) |
L82Q |
probably damaging |
Het |
| Or5p58 |
G |
T |
7: 107,694,449 (GRCm39) |
F109L |
probably benign |
Het |
| Papolg |
A |
T |
11: 23,814,026 (GRCm39) |
S718T |
probably damaging |
Het |
| Pex6 |
A |
G |
17: 47,036,252 (GRCm39) |
|
probably benign |
Het |
| Pi4k2a |
T |
A |
19: 42,093,418 (GRCm39) |
L253Q |
probably damaging |
Het |
| Prdx6b |
T |
A |
2: 80,123,490 (GRCm39) |
F100I |
probably damaging |
Het |
| Prr36 |
G |
A |
8: 4,265,243 (GRCm39) |
P169L |
probably damaging |
Het |
| Ptgfrn |
T |
C |
3: 100,980,404 (GRCm39) |
E312G |
probably damaging |
Het |
| Rasgrf1 |
A |
G |
9: 89,873,745 (GRCm39) |
I685V |
probably benign |
Het |
| Setdb1 |
T |
C |
3: 95,246,164 (GRCm39) |
E586G |
probably damaging |
Het |
| Sez6l2 |
C |
A |
7: 126,567,388 (GRCm39) |
T841K |
probably damaging |
Het |
| Slc25a17 |
A |
T |
15: 81,211,527 (GRCm39) |
L163* |
probably null |
Het |
| Slc35f3 |
A |
T |
8: 127,115,900 (GRCm39) |
I276F |
probably benign |
Het |
| Tcerg1l |
T |
A |
7: 137,996,789 (GRCm39) |
K149N |
possibly damaging |
Het |
| Tex28 |
T |
A |
X: 73,195,939 (GRCm39) |
K278* |
probably null |
Het |
| Tmprss9 |
A |
G |
10: 80,733,793 (GRCm39) |
|
probably benign |
Het |
| Tnfaip8l1 |
A |
G |
17: 56,478,782 (GRCm39) |
K24R |
probably benign |
Het |
| Trim36 |
T |
C |
18: 46,321,455 (GRCm39) |
|
probably benign |
Het |
| Uba1 |
C |
T |
X: 20,537,604 (GRCm39) |
T274I |
possibly damaging |
Het |
| Ubr2 |
T |
C |
17: 47,254,335 (GRCm39) |
T1439A |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,145,772 (GRCm39) |
D1523G |
possibly damaging |
Het |
| Uchl4 |
A |
T |
9: 64,142,788 (GRCm39) |
T90S |
probably benign |
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 |
|
|
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 |
2014-01-21 |
Incidental Mutation