Incidental Mutation 'R4561:Kdm7a'
ID |
343091 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kdm7a
|
Ensembl Gene |
ENSMUSG00000042599 |
Gene Name |
lysine (K)-specific demethylase 7A |
Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
MMRRC Submission |
041786-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R4561 (G1)
|
Quality Score |
225 |
Status
|
Not 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: 97.2%
- 20x: 95.1%
|
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: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Ank3 |
T |
C |
10: 69,837,848 (GRCm39) |
S1601P |
probably damaging |
Het |
Arnt |
A |
G |
3: 95,359,924 (GRCm39) |
N56D |
probably damaging |
Het |
Atad5 |
A |
G |
11: 79,986,715 (GRCm39) |
T601A |
probably benign |
Het |
Calr4 |
A |
G |
4: 109,103,379 (GRCm39) |
N163S |
probably damaging |
Het |
Cenpc1 |
C |
A |
5: 86,195,491 (GRCm39) |
A93S |
probably damaging |
Het |
Cep135 |
C |
T |
5: 76,786,040 (GRCm39) |
H1048Y |
possibly damaging |
Het |
Ctnna2 |
A |
G |
6: 77,613,696 (GRCm39) |
|
probably null |
Het |
Ddx60 |
T |
C |
8: 62,395,495 (GRCm39) |
L144P |
probably damaging |
Het |
Dera |
A |
T |
6: 137,757,736 (GRCm39) |
T96S |
possibly damaging |
Het |
Dock9 |
T |
A |
14: 121,796,419 (GRCm39) |
M1853L |
probably benign |
Het |
Erbb4 |
G |
A |
1: 68,383,080 (GRCm39) |
R306* |
probably null |
Het |
Glyat |
G |
T |
19: 12,628,644 (GRCm39) |
L146F |
possibly damaging |
Het |
Grk4 |
C |
A |
5: 34,852,157 (GRCm39) |
Q134K |
probably benign |
Het |
Hkdc1 |
T |
C |
10: 62,245,618 (GRCm39) |
Q181R |
probably benign |
Het |
Huwe1 |
A |
T |
X: 150,646,955 (GRCm39) |
I682F |
probably damaging |
Het |
Ipo4 |
C |
T |
14: 55,867,546 (GRCm39) |
|
probably benign |
Het |
Ivl |
CCTGCTGCTGCT |
CCTGCTGCTGCTGCT |
3: 92,479,262 (GRCm39) |
|
probably benign |
Het |
Kcnd2 |
A |
G |
6: 21,216,395 (GRCm39) |
Q33R |
probably benign |
Het |
Klhl30 |
A |
T |
1: 91,288,753 (GRCm39) |
H504L |
probably damaging |
Het |
Map4 |
A |
G |
9: 109,881,439 (GRCm39) |
Y101C |
possibly damaging |
Het |
Mfn2 |
C |
A |
4: 147,961,492 (GRCm39) |
R707L |
probably damaging |
Het |
Mslnl |
G |
A |
17: 25,961,908 (GRCm39) |
V128M |
probably damaging |
Het |
Myof |
T |
C |
19: 37,911,438 (GRCm39) |
N1511D |
probably benign |
Het |
Neb |
A |
T |
2: 52,176,167 (GRCm39) |
Y1431N |
probably damaging |
Het |
Nlrc5 |
A |
G |
8: 95,203,774 (GRCm39) |
T625A |
probably damaging |
Het |
Or5g27 |
G |
T |
2: 85,409,964 (GRCm39) |
C127F |
probably damaging |
Het |
Pax2 |
A |
G |
19: 44,824,402 (GRCm39) |
Y374C |
unknown |
Het |
Pde8a |
T |
A |
7: 80,958,568 (GRCm39) |
Y315* |
probably null |
Het |
Pkhd1 |
A |
T |
1: 20,604,943 (GRCm39) |
L1124Q |
possibly damaging |
Het |
Ppp1r3a |
A |
G |
6: 14,754,681 (GRCm39) |
F189L |
probably damaging |
Het |
Prex2 |
G |
A |
1: 11,254,769 (GRCm39) |
|
probably null |
Het |
Robo4 |
CGG |
CG |
9: 37,322,786 (GRCm39) |
|
probably null |
Het |
Slc22a22 |
T |
A |
15: 57,126,781 (GRCm39) |
Q77L |
probably damaging |
Het |
Slc24a2 |
A |
T |
4: 87,145,634 (GRCm39) |
V140D |
probably damaging |
Het |
Slc35g2 |
C |
A |
9: 100,435,287 (GRCm39) |
R128L |
probably damaging |
Het |
Slco1b2 |
A |
G |
6: 141,616,893 (GRCm39) |
T409A |
probably benign |
Het |
Spag7 |
T |
C |
11: 70,555,816 (GRCm39) |
I80M |
probably damaging |
Het |
Srgap3 |
A |
G |
6: 112,758,015 (GRCm39) |
M164T |
probably damaging |
Het |
Sspo |
A |
T |
6: 48,452,468 (GRCm39) |
|
probably null |
Het |
Tcte2 |
T |
C |
17: 13,942,864 (GRCm39) |
|
probably benign |
Het |
Tmem117 |
A |
T |
15: 94,992,677 (GRCm39) |
M446L |
probably benign |
Het |
Tmtc4 |
T |
C |
14: 123,200,710 (GRCm39) |
T194A |
probably benign |
Het |
Ttc21b |
T |
C |
2: 66,016,562 (GRCm39) |
Y1269C |
probably damaging |
Het |
Zfp236 |
A |
T |
18: 82,638,531 (GRCm39) |
I1363N |
probably damaging |
Het |
Zfp760 |
T |
A |
17: 21,942,648 (GRCm39) |
S608T |
probably benign |
Het |
Zfp947 |
G |
T |
17: 22,365,124 (GRCm39) |
Y183* |
probably null |
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 |
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'- GGAACTGCCTCTGTTGTTTTATAAC -3'
(R):5'- ATAAGATTCACTGTGAGGCAAATCC -3'
Sequencing Primer
(F):5'- ACTTCACACGTGTCAGTG -3'
(R):5'- CCTCCTAGCTATTGGGATTAAAGGC -3'
|
Posted On |
2015-09-24 |