Incidental Mutation 'R0962:Kdm7a'
| ID |
81256 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm7a
|
| Ensembl Gene |
ENSMUSG00000042599 |
| Gene Name |
lysine (K)-specific demethylase 7A |
| Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
| MMRRC Submission |
039091-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0962 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 39124128 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 720
(V720A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
| AlphaFold |
Q3UWM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002305
AA Change: V720A
PolyPhen 2
Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: V720A
| 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
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146981
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.9%
- 20x: 96.0%
|
| Validation Efficiency |
100% (56/56) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
G |
A |
11: 84,202,129 (GRCm39) |
A196T |
probably damaging |
Het |
| Adamtsl4 |
T |
A |
3: 95,591,798 (GRCm39) |
R97* |
probably null |
Het |
| Adgrv1 |
T |
C |
13: 81,553,465 (GRCm39) |
I5470V |
probably benign |
Het |
| Afg3l2 |
T |
C |
18: 67,538,497 (GRCm39) |
T754A |
possibly damaging |
Het |
| Agfg1 |
T |
C |
1: 82,864,117 (GRCm39) |
F395S |
probably damaging |
Het |
| Ahnak |
A |
G |
19: 8,990,212 (GRCm39) |
|
probably benign |
Het |
| Alkbh2 |
T |
C |
5: 114,262,014 (GRCm39) |
K239E |
possibly damaging |
Het |
| Ankmy1 |
A |
T |
1: 92,827,290 (GRCm39) |
C87* |
probably null |
Het |
| Apob |
A |
G |
12: 8,039,191 (GRCm39) |
I461V |
probably damaging |
Het |
| Arap1 |
C |
T |
7: 101,034,121 (GRCm39) |
P188S |
possibly damaging |
Het |
| Atp12a |
G |
A |
14: 56,605,870 (GRCm39) |
E64K |
probably damaging |
Het |
| Brca1 |
A |
T |
11: 101,416,192 (GRCm39) |
H647Q |
possibly damaging |
Het |
| Cachd1 |
A |
G |
4: 100,840,498 (GRCm39) |
|
probably benign |
Het |
| Cep57 |
A |
T |
9: 13,720,039 (GRCm39) |
V429D |
possibly damaging |
Het |
| Cfap299 |
T |
C |
5: 98,714,420 (GRCm39) |
|
probably benign |
Het |
| Dip2a |
T |
C |
10: 76,128,266 (GRCm39) |
|
probably benign |
Het |
| Dmxl2 |
A |
T |
9: 54,353,696 (GRCm39) |
N757K |
probably damaging |
Het |
| Dock7 |
G |
A |
4: 98,833,432 (GRCm39) |
T1953I |
possibly damaging |
Het |
| Ebf3 |
T |
C |
7: 136,826,932 (GRCm39) |
T111A |
probably damaging |
Het |
| Ercc4 |
T |
C |
16: 12,948,010 (GRCm39) |
I319T |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,486,363 (GRCm39) |
|
probably benign |
Het |
| Gucy2g |
C |
T |
19: 55,198,716 (GRCm39) |
W809* |
probably null |
Het |
| Hhipl1 |
A |
G |
12: 108,293,980 (GRCm39) |
K629E |
probably benign |
Het |
| Hmbox1 |
A |
T |
14: 65,134,223 (GRCm39) |
S126T |
probably benign |
Het |
| Htr1a |
A |
G |
13: 105,580,832 (GRCm39) |
N24S |
probably benign |
Het |
| Htra3 |
T |
A |
5: 35,825,700 (GRCm39) |
I185F |
probably damaging |
Het |
| Impg1 |
C |
T |
9: 80,289,023 (GRCm39) |
D345N |
probably benign |
Het |
| Iqca1 |
C |
A |
1: 90,070,453 (GRCm39) |
G133V |
probably null |
Het |
| Kirrel3 |
A |
G |
9: 34,912,293 (GRCm39) |
D212G |
possibly damaging |
Het |
| Lgals3bp |
A |
T |
11: 118,283,846 (GRCm39) |
*139K |
probably null |
Het |
| Lrp11 |
T |
A |
10: 7,466,060 (GRCm39) |
V82D |
probably benign |
Het |
| Mcf2l |
T |
C |
8: 13,051,964 (GRCm39) |
Y425H |
probably benign |
Het |
| Mfn2 |
T |
C |
4: 147,966,658 (GRCm39) |
N511S |
probably benign |
Het |
| Mical2 |
T |
C |
7: 111,979,624 (GRCm39) |
S108P |
probably damaging |
Het |
| Ms4a6c |
C |
T |
19: 11,448,506 (GRCm39) |
T13M |
probably benign |
Het |
| Naip2 |
C |
A |
13: 100,315,893 (GRCm39) |
V296F |
probably damaging |
Het |
| Or2d36 |
T |
A |
7: 106,747,294 (GRCm39) |
F257Y |
possibly damaging |
Het |
| Or51a5 |
A |
G |
7: 102,771,217 (GRCm39) |
V254A |
possibly damaging |
Het |
| Or7e175 |
T |
A |
9: 20,048,834 (GRCm39) |
C141S |
probably damaging |
Het |
| P3h2 |
T |
C |
16: 25,815,998 (GRCm39) |
M172V |
probably benign |
Het |
| Pcolce2 |
T |
G |
9: 95,552,087 (GRCm39) |
N73K |
probably benign |
Het |
| Pla2g4d |
A |
G |
2: 120,111,098 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
A |
G |
7: 44,997,146 (GRCm39) |
|
probably benign |
Het |
| Ptprcap |
A |
G |
19: 4,206,463 (GRCm39) |
D182G |
possibly damaging |
Het |
| Rabgap1 |
T |
C |
2: 37,450,481 (GRCm39) |
|
probably benign |
Het |
| Rpain |
G |
A |
11: 70,865,867 (GRCm39) |
|
probably null |
Het |
| Sdk1 |
C |
T |
5: 142,147,630 (GRCm39) |
T1754I |
probably damaging |
Het |
| Stag1 |
T |
A |
9: 100,678,880 (GRCm39) |
L267Q |
probably damaging |
Het |
| Tex9 |
T |
C |
9: 72,391,374 (GRCm39) |
T92A |
probably benign |
Het |
| Trpa1 |
T |
A |
1: 14,968,387 (GRCm39) |
I460F |
possibly damaging |
Het |
| Ttn |
A |
T |
2: 76,780,500 (GRCm39) |
Y1084N |
probably damaging |
Het |
| Utp6 |
A |
G |
11: 79,832,694 (GRCm39) |
|
probably benign |
Het |
| Zbtb39 |
C |
G |
10: 127,578,175 (GRCm39) |
Q250E |
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 |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTCGAGGTAGGACATTCCCTAAG -3'
(R):5'- CATCCAGTGACGGTCATGTTCCAC -3'
Sequencing Primer
(F):5'- ATTCCCTAAGGAGCAGGTGATTC -3'
(R):5'- GGGAGAAATACTGCTGCTTATG -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation