Incidental Mutation 'R8337:Kdm7a'
| ID |
644666 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm7a
|
| Ensembl Gene |
ENSMUSG00000042599 |
| Gene Name |
lysine (K)-specific demethylase 7A |
| Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
| MMRRC Submission |
067800-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8337 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39122461 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 801
(D801G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
| AlphaFold |
Q3UWM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002305
AA Change: D801G
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: D801G
| 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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.2%
|
| Validation Efficiency |
100% (55/55) |
| 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 |
|---|
| 2310034C09Rik |
T |
C |
16: 88,556,151 (GRCm39) |
Y122H |
probably damaging |
Het |
| Abhd14b |
T |
A |
9: 106,327,240 (GRCm39) |
H7Q |
probably benign |
Het |
| Acod1 |
C |
T |
14: 103,286,780 (GRCm39) |
R28W |
possibly damaging |
Het |
| Agap2 |
A |
G |
10: 126,924,194 (GRCm39) |
T803A |
unknown |
Het |
| Angptl7 |
T |
C |
4: 148,581,741 (GRCm39) |
E215G |
probably damaging |
Het |
| Ankrd34c |
T |
A |
9: 89,611,951 (GRCm39) |
D130V |
probably damaging |
Het |
| BC028528 |
A |
G |
3: 95,792,298 (GRCm39) |
V144A |
probably benign |
Het |
| Cab39l |
T |
C |
14: 59,776,640 (GRCm39) |
F274L |
probably damaging |
Het |
| Cdsn |
T |
C |
17: 35,866,415 (GRCm39) |
S315P |
possibly damaging |
Het |
| Celsr3 |
CGGGG |
CGGGGG |
9: 108,718,471 (GRCm39) |
|
probably null |
Het |
| Cep97 |
A |
T |
16: 55,735,394 (GRCm39) |
L540* |
probably null |
Het |
| Chrna2 |
G |
T |
14: 66,387,017 (GRCm39) |
E388* |
probably null |
Het |
| Ckap4 |
A |
G |
10: 84,364,460 (GRCm39) |
V201A |
probably damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,042,922 (GRCm39) |
K47R |
probably benign |
Het |
| Clvs2 |
A |
T |
10: 33,404,484 (GRCm39) |
I244N |
possibly damaging |
Het |
| Cmtr1 |
G |
A |
17: 29,893,151 (GRCm39) |
E57K |
probably benign |
Het |
| Cxxc1 |
T |
A |
18: 74,353,910 (GRCm39) |
D565E |
possibly damaging |
Het |
| Dtx3l |
T |
A |
16: 35,754,073 (GRCm39) |
M178L |
probably benign |
Het |
| Eml2 |
A |
G |
7: 18,930,161 (GRCm39) |
D294G |
possibly damaging |
Het |
| Flt3 |
A |
G |
5: 147,269,698 (GRCm39) |
|
probably null |
Het |
| Frs3 |
T |
A |
17: 48,014,777 (GRCm39) |
L490Q |
probably damaging |
Het |
| Gm6882 |
G |
A |
7: 21,161,559 (GRCm39) |
T103I |
possibly damaging |
Het |
| Gsdmd |
C |
T |
15: 75,736,270 (GRCm39) |
T133I |
probably benign |
Het |
| Hhipl2 |
C |
A |
1: 183,209,540 (GRCm39) |
C331* |
probably null |
Het |
| Ifnar1 |
C |
A |
16: 91,302,224 (GRCm39) |
D566E |
possibly damaging |
Het |
| Ighv1-34 |
A |
T |
12: 114,814,939 (GRCm39) |
N74K |
probably benign |
Het |
| Itk |
T |
C |
11: 46,233,222 (GRCm39) |
|
probably null |
Het |
| Marchf1 |
T |
C |
8: 66,871,641 (GRCm39) |
L139P |
probably damaging |
Het |
| Metap1d |
T |
C |
2: 71,345,982 (GRCm39) |
V181A |
probably damaging |
Het |
| Mfsd8 |
G |
A |
3: 40,789,628 (GRCm39) |
R140C |
probably damaging |
Het |
| Mrps25 |
T |
C |
6: 92,152,745 (GRCm39) |
T92A |
probably benign |
Het |
| Mucl3 |
T |
C |
17: 35,948,486 (GRCm39) |
H371R |
possibly damaging |
Het |
| Ntng2 |
C |
A |
2: 29,138,050 (GRCm39) |
M1I |
probably null |
Het |
| Or51b17 |
C |
T |
7: 103,542,256 (GRCm39) |
G229R |
probably benign |
Het |
| Or51q1 |
A |
C |
7: 103,628,581 (GRCm39) |
M61L |
probably damaging |
Het |
| Or8b57 |
T |
C |
9: 40,003,695 (GRCm39) |
K189R |
probably benign |
Het |
| Pla2g12a |
A |
G |
3: 129,672,465 (GRCm39) |
D33G |
probably damaging |
Het |
| Prlhr |
A |
G |
19: 60,456,284 (GRCm39) |
V94A |
possibly damaging |
Het |
| Ralgapb |
T |
A |
2: 158,292,192 (GRCm39) |
S793T |
probably benign |
Het |
| Rapgef6 |
T |
A |
11: 54,522,127 (GRCm39) |
L455* |
probably null |
Het |
| Sbf2 |
T |
C |
7: 110,040,669 (GRCm39) |
H386R |
probably benign |
Het |
| Sec23ip |
C |
A |
7: 128,365,749 (GRCm39) |
N539K |
probably damaging |
Het |
| Shisa4 |
A |
G |
1: 135,300,907 (GRCm39) |
L121P |
probably damaging |
Het |
| Slc28a2b |
C |
T |
2: 122,355,617 (GRCm39) |
T603I |
probably benign |
Het |
| Stard9 |
T |
A |
2: 120,510,306 (GRCm39) |
F296I |
probably damaging |
Het |
| Strn3 |
T |
C |
12: 51,707,955 (GRCm39) |
K147E |
probably damaging |
Het |
| Taf5l |
T |
C |
8: 124,724,841 (GRCm39) |
N326S |
probably benign |
Het |
| Tfb2m |
T |
A |
1: 179,369,914 (GRCm39) |
I170L |
probably benign |
Het |
| Tfec |
T |
C |
6: 16,845,422 (GRCm39) |
N79S |
possibly damaging |
Het |
| Tnn |
C |
T |
1: 159,946,053 (GRCm39) |
G922R |
probably damaging |
Het |
| Tox3 |
T |
C |
8: 91,074,507 (GRCm39) |
Y24C |
probably damaging |
Het |
| Vmn2r6 |
A |
T |
3: 64,463,526 (GRCm39) |
L436* |
probably null |
Het |
| Vmn2r80 |
A |
G |
10: 78,984,707 (GRCm39) |
I20V |
probably benign |
Het |
| Wdr97 |
T |
C |
15: 76,245,684 (GRCm39) |
V1307A |
|
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAAGACCTCTTTCAGCCTCTTG -3'
(R):5'- CAAGTTTGGTTCTGAGTTGCTAAC -3'
Sequencing Primer
(F):5'- AGACCTCTTTCAGCCTCTTGATAATC -3'
(R):5'- TCTGAGTTGCTAACTGTGGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation