Incidental Mutation 'R6966:Kdm7a'
ID |
541993 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kdm7a
|
Ensembl Gene |
ENSMUSG00000042599 |
Gene Name |
lysine (K)-specific demethylase 7A |
Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
MMRRC Submission |
045076-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6966 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
6 |
Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 39129773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Phenylalanine
at position 468
(L468F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
AlphaFold |
Q3UWM4 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000002305
AA Change: L468F
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000002305 Gene: ENSMUSG00000042599 AA Change: L468F
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: 99.2%
- 20x: 97.3%
|
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam26b |
G |
A |
8: 43,974,472 (GRCm39) |
R177C |
possibly damaging |
Het |
Adgrb2 |
CG |
C |
4: 129,908,155 (GRCm39) |
|
probably null |
Het |
Bahcc1 |
G |
A |
11: 120,173,985 (GRCm39) |
V1582M |
probably damaging |
Het |
Baiap2 |
A |
T |
11: 119,897,231 (GRCm39) |
R529* |
probably null |
Het |
Bcl9l |
C |
T |
9: 44,420,685 (GRCm39) |
Q1327* |
probably null |
Het |
Brsk2 |
T |
A |
7: 141,538,270 (GRCm39) |
C139S |
possibly damaging |
Het |
Catsper3 |
T |
A |
13: 55,946,672 (GRCm39) |
I123N |
probably damaging |
Het |
Cd84 |
A |
G |
1: 171,713,976 (GRCm39) |
N325D |
possibly damaging |
Het |
Chid1 |
T |
A |
7: 141,076,297 (GRCm39) |
Y357F |
possibly damaging |
Het |
Clstn2 |
A |
T |
9: 97,408,459 (GRCm39) |
Y416* |
probably null |
Het |
Cnot1 |
A |
T |
8: 96,451,160 (GRCm39) |
L2189Q |
probably damaging |
Het |
Csnk2b |
T |
A |
17: 35,336,758 (GRCm39) |
I170L |
probably benign |
Het |
Dnah3 |
T |
C |
7: 119,631,977 (GRCm39) |
Q1326R |
probably damaging |
Het |
Drd1 |
T |
C |
13: 54,207,564 (GRCm39) |
I210V |
probably damaging |
Het |
Eef1d |
G |
T |
15: 75,775,558 (GRCm39) |
Q34K |
probably benign |
Het |
Fam184a |
T |
C |
10: 53,531,095 (GRCm39) |
T760A |
probably benign |
Het |
Fnip1 |
G |
T |
11: 54,373,385 (GRCm39) |
V199F |
probably benign |
Het |
Glyatl3 |
T |
C |
17: 41,215,829 (GRCm39) |
K226E |
probably damaging |
Het |
Gm19410 |
C |
T |
8: 36,285,127 (GRCm39) |
T2093I |
possibly damaging |
Het |
Herc1 |
A |
T |
9: 66,318,347 (GRCm39) |
E1206D |
probably benign |
Het |
Hs6st1 |
G |
A |
1: 36,143,299 (GRCm39) |
W411* |
probably null |
Het |
Hsf2 |
C |
A |
10: 57,372,080 (GRCm39) |
S60R |
probably damaging |
Het |
Hyal5 |
C |
A |
6: 24,891,291 (GRCm39) |
N368K |
probably damaging |
Het |
Itgb2l |
A |
T |
16: 96,231,843 (GRCm39) |
F308I |
probably benign |
Het |
Lamp3 |
A |
T |
16: 19,518,403 (GRCm39) |
L278* |
probably null |
Het |
Ly6c1 |
A |
T |
15: 74,917,289 (GRCm39) |
|
probably benign |
Het |
Mark3 |
A |
G |
12: 111,606,458 (GRCm39) |
N524D |
probably damaging |
Het |
Met |
T |
G |
6: 17,531,531 (GRCm39) |
L603R |
possibly damaging |
Het |
Mical1 |
A |
T |
10: 41,355,750 (GRCm39) |
Q198L |
probably damaging |
Het |
Nacad |
T |
A |
11: 6,552,634 (GRCm39) |
I186F |
possibly damaging |
Het |
Nt5c3b |
A |
T |
11: 100,320,750 (GRCm39) |
M257K |
probably benign |
Het |
Nuak2 |
T |
C |
1: 132,252,770 (GRCm39) |
M108T |
possibly damaging |
Het |
Nub1 |
T |
A |
5: 24,894,470 (GRCm39) |
Y51N |
probably damaging |
Het |
Nxpe5 |
T |
C |
5: 138,237,679 (GRCm39) |
S68P |
probably damaging |
Het |
Or10ag58 |
C |
T |
2: 87,265,623 (GRCm39) |
T264I |
probably damaging |
Het |
Or5d44 |
A |
G |
2: 88,141,835 (GRCm39) |
S102P |
probably benign |
Het |
Or6c66 |
A |
G |
10: 129,461,633 (GRCm39) |
V99A |
probably benign |
Het |
Pias3 |
A |
G |
3: 96,609,511 (GRCm39) |
D276G |
probably damaging |
Het |
Setd7 |
A |
G |
3: 51,437,605 (GRCm39) |
Y217H |
probably damaging |
Het |
Slc23a1 |
A |
T |
18: 35,758,114 (GRCm39) |
I142N |
probably damaging |
Het |
Slx4ip |
T |
C |
2: 136,910,144 (GRCm39) |
S310P |
probably damaging |
Het |
Tcp11l2 |
G |
A |
10: 84,427,133 (GRCm39) |
R199Q |
possibly damaging |
Het |
Tgm4 |
T |
A |
9: 122,880,207 (GRCm39) |
D226E |
possibly damaging |
Het |
Tspyl4 |
C |
A |
10: 34,173,673 (GRCm39) |
A55E |
probably benign |
Het |
Uap1l1 |
A |
G |
2: 25,254,950 (GRCm39) |
I146T |
probably damaging |
Het |
Ush2a |
G |
A |
1: 188,308,441 (GRCm39) |
G2030D |
probably damaging |
Het |
Uts2r |
G |
A |
11: 121,052,213 (GRCm39) |
G359D |
possibly damaging |
Het |
Vwa7 |
T |
C |
17: 35,236,072 (GRCm39) |
S9P |
probably benign |
Het |
Zbtb16 |
A |
G |
9: 48,568,654 (GRCm39) |
C604R |
probably damaging |
Het |
Zfp804b |
A |
G |
5: 6,821,615 (GRCm39) |
S483P |
probably damaging |
Het |
Zfpm1 |
G |
A |
8: 123,058,904 (GRCm39) |
A175T |
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 |
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 |
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'- TAACTGGAACTGCCTCTGTTG -3'
(R):5'- AGATTCACTGTGAGGCAAATCC -3'
Sequencing Primer
(F):5'- GGAACTGCCTCTGTTGTTTTATAAC -3'
(R):5'- CCTCCTAGCTATTGGGATTAAAGGC -3'
|
Posted On |
2018-11-28 |