Incidental Mutation 'R7087:Kdm7a'
| ID |
549951 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm7a
|
| Ensembl Gene |
ENSMUSG00000042599 |
| Gene Name |
lysine (K)-specific demethylase 7A |
| Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
| MMRRC Submission |
045181-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7087 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 39152315 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 127
(R127H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
| AlphaFold |
Q3UWM4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000002305
AA Change: R127H
PolyPhen 2
Score 0.177 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: R127H
| 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: 100.0%
- 10x: 99.8%
- 20x: 99.2%
|
| Validation Efficiency |
98% (43/44) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acsm3 |
T |
A |
7: 119,373,870 (GRCm39) |
V252D |
probably damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,271,856 (GRCm39) |
L1634P |
probably damaging |
Het |
| Arhgef4 |
A |
T |
1: 34,850,767 (GRCm39) |
R438W |
probably damaging |
Het |
| Asb3 |
A |
C |
11: 30,948,321 (GRCm39) |
K38T |
probably benign |
Het |
| Atp1a4 |
A |
T |
1: 172,074,269 (GRCm39) |
L328Q |
probably damaging |
Het |
| BC030500 |
T |
A |
8: 59,365,388 (GRCm39) |
I13N |
unknown |
Het |
| Cbarp |
A |
G |
10: 79,972,242 (GRCm39) |
S136P |
probably damaging |
Het |
| Ccdc18 |
T |
A |
5: 108,343,988 (GRCm39) |
D910E |
probably benign |
Het |
| Cenpo |
C |
T |
12: 4,265,307 (GRCm39) |
E238K |
probably benign |
Het |
| Cmya5 |
A |
G |
13: 93,227,483 (GRCm39) |
V2535A |
probably benign |
Het |
| Ddx39b |
C |
T |
17: 35,472,025 (GRCm39) |
R355C |
probably damaging |
Het |
| Dock10 |
T |
C |
1: 80,570,543 (GRCm39) |
T338A |
probably benign |
Het |
| Dpysl3 |
T |
C |
18: 43,496,595 (GRCm39) |
D147G |
probably damaging |
Het |
| Eif3i |
G |
T |
4: 129,486,104 (GRCm39) |
H284Q |
probably damaging |
Het |
| Erbb4 |
A |
T |
1: 68,779,650 (GRCm39) |
L42Q |
probably null |
Het |
| Exoc3l2 |
A |
G |
7: 19,203,582 (GRCm39) |
E58G |
|
Het |
| Fgf18 |
C |
T |
11: 33,074,677 (GRCm39) |
R98Q |
probably damaging |
Het |
| Gm40460 |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
GCAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAGCAGGGCTTACAGCAGCTGGACTGGCAGCAG |
7: 141,794,171 (GRCm39) |
|
probably benign |
Het |
| Gp2 |
T |
A |
7: 119,049,455 (GRCm39) |
T361S |
probably damaging |
Het |
| Gtsf1 |
A |
T |
15: 103,333,876 (GRCm39) |
H33Q |
probably damaging |
Het |
| Hoxa4 |
G |
A |
6: 52,168,271 (GRCm39) |
T133M |
probably damaging |
Het |
| Hspb7 |
C |
A |
4: 141,149,866 (GRCm39) |
T84K |
possibly damaging |
Het |
| Kcnq4 |
C |
T |
4: 120,561,596 (GRCm39) |
R491H |
probably damaging |
Het |
| Lsm10 |
C |
T |
4: 125,991,952 (GRCm39) |
R103C |
probably damaging |
Het |
| Mgme1 |
T |
C |
2: 144,114,101 (GRCm39) |
S68P |
probably damaging |
Het |
| Nes |
G |
T |
3: 87,887,065 (GRCm39) |
V1775L |
probably benign |
Het |
| Nfrkb |
C |
T |
9: 31,331,228 (GRCm39) |
Q1250* |
probably null |
Het |
| Or4s2 |
T |
C |
2: 88,473,197 (GRCm39) |
F29L |
probably damaging |
Het |
| Phf21b |
A |
T |
15: 84,676,033 (GRCm39) |
L338H |
probably damaging |
Het |
| Pira12 |
G |
A |
7: 3,900,218 (GRCm39) |
A128V |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,282,580 (GRCm39) |
V190A |
possibly damaging |
Het |
| Prmt1 |
T |
C |
7: 44,631,007 (GRCm39) |
|
probably null |
Het |
| Rusc1 |
A |
G |
3: 88,996,799 (GRCm39) |
V639A |
probably damaging |
Het |
| Slc24a2 |
T |
A |
4: 86,909,456 (GRCm39) |
|
probably null |
Het |
| Slc39a10 |
T |
C |
1: 46,874,880 (GRCm39) |
T141A |
probably damaging |
Het |
| Spta1 |
A |
T |
1: 174,002,076 (GRCm39) |
M69L |
probably benign |
Het |
| St8sia5 |
A |
C |
18: 77,342,238 (GRCm39) |
Q316P |
possibly damaging |
Het |
| Svs3a |
T |
C |
2: 164,131,717 (GRCm39) |
I96T |
possibly damaging |
Het |
| Syne1 |
T |
A |
10: 5,492,024 (GRCm39) |
|
probably benign |
Het |
| Trappc3 |
T |
C |
4: 126,166,474 (GRCm39) |
S16P |
probably benign |
Het |
| Vmn2r44 |
A |
T |
7: 8,381,366 (GRCm39) |
F176I |
probably benign |
Het |
| Wnk1 |
C |
T |
6: 120,014,491 (GRCm39) |
E35K |
possibly damaging |
Het |
| Zfp354c |
A |
G |
11: 50,706,040 (GRCm39) |
L345P |
probably damaging |
Het |
| Zfp608 |
T |
A |
18: 55,032,469 (GRCm39) |
K490N |
probably damaging |
Het |
| Zfp687 |
A |
C |
3: 94,917,524 (GRCm39) |
S709A |
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 |
|
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 |
|
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'- GTTACTCCTATCCCCTGGAATG -3'
(R):5'- TTGTGCCTACAGTTGTTAACTTCTG -3'
Sequencing Primer
(F):5'- GTAGACAGCTGACACCAAT -3'
(R):5'- CCAGTTAGCAAACATGTTTC -3'
|
| Posted On |
2019-05-15 |
Incidental Mutation