Incidental Mutation 'R4563:Kdm7a'
ID |
343192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kdm7a
|
Ensembl Gene |
ENSMUSG00000042599 |
Gene Name |
lysine (K)-specific demethylase 7A |
Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
MMRRC Submission |
041788-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4563 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 39129757 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glutamine
at position 473
(R473Q)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
AlphaFold |
Q3UWM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002305
AA Change: R473Q
PolyPhen 2
Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000002305 Gene: ENSMUSG00000042599 AA Change: R473Q
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 |
0.3989 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.8%
|
Validation Efficiency |
100% (40/40) |
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: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam17 |
A |
G |
12: 21,382,089 (GRCm39) |
C591R |
probably damaging |
Het |
Bace2 |
G |
A |
16: 97,223,180 (GRCm39) |
R368Q |
probably damaging |
Het |
Calm5 |
C |
A |
13: 3,904,402 (GRCm39) |
S32* |
probably null |
Het |
Ccdc198 |
T |
A |
14: 49,471,955 (GRCm39) |
M152L |
probably benign |
Het |
Cln3 |
G |
T |
7: 126,171,730 (GRCm39) |
S346R |
probably damaging |
Het |
G6pd2 |
G |
A |
5: 61,967,686 (GRCm39) |
R487H |
possibly damaging |
Het |
Glipr2 |
A |
T |
4: 43,977,600 (GRCm39) |
N77Y |
probably damaging |
Het |
Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
Kbtbd2 |
A |
G |
6: 56,766,264 (GRCm39) |
V37A |
probably benign |
Het |
Lrrc71 |
T |
A |
3: 87,652,715 (GRCm39) |
|
probably benign |
Het |
Mcm3 |
G |
T |
1: 20,879,869 (GRCm39) |
R543S |
probably benign |
Het |
Mgat4a |
T |
C |
1: 37,505,660 (GRCm39) |
D43G |
probably damaging |
Het |
Mphosph8 |
T |
C |
14: 56,928,457 (GRCm39) |
Y703H |
probably benign |
Het |
Ncf2 |
T |
C |
1: 152,683,976 (GRCm39) |
|
probably benign |
Het |
Nek6 |
T |
G |
2: 38,475,305 (GRCm39) |
V282G |
probably damaging |
Het |
Nhlrc1 |
T |
C |
13: 47,167,666 (GRCm39) |
D197G |
possibly damaging |
Het |
Nup93 |
G |
T |
8: 95,034,520 (GRCm39) |
V612F |
probably damaging |
Het |
Or5be3 |
C |
T |
2: 86,864,028 (GRCm39) |
C179Y |
probably damaging |
Het |
Or9i14 |
A |
G |
19: 13,792,646 (GRCm39) |
F103L |
probably benign |
Het |
Pafah1b2 |
T |
C |
9: 45,887,404 (GRCm39) |
K36E |
probably damaging |
Het |
Paqr9 |
A |
G |
9: 95,442,997 (GRCm39) |
E329G |
probably benign |
Het |
Pclo |
A |
G |
5: 14,571,383 (GRCm39) |
Q256R |
probably damaging |
Het |
Pctp |
A |
T |
11: 89,879,578 (GRCm39) |
D94E |
probably benign |
Het |
Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
Pex14 |
A |
T |
4: 149,126,225 (GRCm39) |
V41D |
probably damaging |
Het |
Ptgir |
A |
G |
7: 16,640,794 (GRCm39) |
M29V |
possibly damaging |
Het |
Rasal2 |
T |
C |
1: 157,003,561 (GRCm39) |
K366R |
probably damaging |
Het |
Rprd1a |
A |
C |
18: 24,640,160 (GRCm39) |
|
probably null |
Het |
Senp8 |
A |
C |
9: 59,657,546 (GRCm39) |
M1R |
probably null |
Het |
Slc49a4 |
T |
C |
16: 35,518,312 (GRCm39) |
Y467C |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Strc |
T |
C |
2: 121,196,286 (GRCm39) |
T1581A |
probably benign |
Het |
Tmem117 |
T |
C |
15: 94,536,035 (GRCm39) |
I23T |
possibly damaging |
Het |
Ttc13 |
A |
G |
8: 125,402,016 (GRCm39) |
L657P |
probably damaging |
Het |
Ube4b |
A |
G |
4: 149,443,622 (GRCm39) |
|
probably benign |
Het |
Vmn1r125 |
A |
G |
7: 21,006,308 (GRCm39) |
T69A |
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 |
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 |
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'- GGAACTGCCTCTGTTGTTTTATAAC -3'
(R):5'- AGATTCACTGTGAGGCAAATCC -3'
Sequencing Primer
(F):5'- ACTTCACACGTGTCAGTG -3'
(R):5'- CCTCCTAGCTATTGGGATTAAAGGC -3'
|
Posted On |
2015-09-24 |