Incidental Mutation 'R7048:Kdm7a'
| ID |
547429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kdm7a
|
| Ensembl Gene |
ENSMUSG00000042599 |
| Gene Name |
lysine (K)-specific demethylase 7A |
| Synonyms |
ENSMUSG00000073143, Kdm7a, Jhdm1d, A630082K20Rik |
| MMRRC Submission |
045146-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
6 |
| Chromosomal Location |
39113554-39183707 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 39145982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 315
(E315G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000002305
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000002305]
|
| AlphaFold |
Q3UWM4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000002305
AA Change: E315G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000002305
Gene: ENSMUSG00000042599
AA Change: E315G
| 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 |
|
| Meta Mutation Damage Score |
0.9018 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
| Validation Efficiency |
97% (66/68) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrl2 |
T |
C |
3: 148,552,565 (GRCm39) |
D629G |
probably damaging |
Het |
| Akap11 |
T |
A |
14: 78,749,954 (GRCm39) |
Q811L |
|
Het |
| Ank2 |
T |
A |
3: 126,819,267 (GRCm39) |
Q468L |
probably benign |
Het |
| Ano3 |
A |
T |
2: 110,513,116 (GRCm39) |
Y626* |
probably null |
Het |
| Ap1m1 |
A |
G |
8: 73,003,642 (GRCm39) |
N114S |
probably damaging |
Het |
| Asb3 |
T |
A |
11: 31,051,121 (GRCm39) |
I525N |
probably damaging |
Het |
| Atg4a-ps |
A |
G |
3: 103,552,672 (GRCm39) |
I223T |
probably damaging |
Het |
| B3gnt7 |
T |
C |
1: 86,233,308 (GRCm39) |
Y68H |
probably benign |
Het |
| Bbs5 |
T |
C |
2: 69,484,705 (GRCm39) |
I125T |
probably benign |
Het |
| Cd180 |
A |
G |
13: 102,841,431 (GRCm39) |
N159S |
probably damaging |
Het |
| Cd37 |
T |
C |
7: 44,887,888 (GRCm39) |
|
probably benign |
Het |
| Cdk14 |
T |
A |
5: 5,143,005 (GRCm39) |
Q242L |
probably damaging |
Het |
| Clcn1 |
T |
C |
6: 42,284,477 (GRCm39) |
V605A |
probably damaging |
Het |
| Cped1 |
G |
A |
6: 22,119,469 (GRCm39) |
M309I |
probably benign |
Het |
| Cyp2r1 |
A |
T |
7: 114,151,971 (GRCm39) |
Y120N |
probably damaging |
Het |
| Ddx3y |
A |
T |
Y: 1,279,491 (GRCm39) |
S124R |
probably benign |
Het |
| Dlec1 |
A |
T |
9: 118,972,472 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
T |
C |
11: 117,936,944 (GRCm39) |
E3420G |
possibly damaging |
Het |
| Dnajc13 |
C |
T |
9: 104,080,613 (GRCm39) |
|
probably null |
Het |
| Dusp23 |
A |
T |
1: 172,459,253 (GRCm39) |
Y136* |
probably null |
Het |
| Eif4b |
A |
G |
15: 102,001,571 (GRCm39) |
|
probably benign |
Het |
| F13a1 |
A |
G |
13: 37,082,117 (GRCm39) |
V529A |
probably benign |
Het |
| Fhl2 |
A |
G |
1: 43,162,808 (GRCm39) |
Y236H |
probably damaging |
Het |
| Gm826 |
C |
T |
2: 160,169,026 (GRCm39) |
W94* |
probably null |
Het |
| Gpsm2 |
C |
T |
3: 108,610,361 (GRCm39) |
R33H |
probably damaging |
Het |
| Hmcn1 |
T |
C |
1: 150,475,404 (GRCm39) |
|
probably null |
Het |
| Ifit1bl2 |
T |
C |
19: 34,596,551 (GRCm39) |
D355G |
probably benign |
Het |
| Itga8 |
A |
G |
2: 12,115,895 (GRCm39) |
V77A |
probably damaging |
Het |
| Kcmf1 |
C |
T |
6: 72,826,450 (GRCm39) |
R40K |
probably damaging |
Het |
| Kmt2b |
C |
T |
7: 30,268,731 (GRCm39) |
G2666D |
probably damaging |
Het |
| Lrrtm1 |
A |
G |
6: 77,221,152 (GRCm39) |
N203S |
probably damaging |
Het |
| Mdn1 |
A |
G |
4: 32,767,969 (GRCm39) |
N5301D |
probably benign |
Het |
| Mest |
T |
G |
6: 30,742,723 (GRCm39) |
H108Q |
probably damaging |
Het |
| Mettl25b |
A |
G |
3: 87,837,167 (GRCm39) |
I36T |
probably damaging |
Het |
| Moxd1 |
C |
A |
10: 24,157,374 (GRCm39) |
D335E |
probably damaging |
Het |
| Ncf2 |
A |
C |
1: 152,683,921 (GRCm39) |
N47H |
probably benign |
Het |
| Npc1 |
A |
G |
18: 12,337,822 (GRCm39) |
|
probably null |
Het |
| Or14j2 |
A |
T |
17: 37,886,114 (GRCm39) |
S67T |
probably damaging |
Het |
| Pcid2 |
A |
G |
8: 13,128,243 (GRCm39) |
V386A |
probably benign |
Het |
| Phactr2 |
T |
A |
10: 13,121,168 (GRCm39) |
T444S |
probably benign |
Het |
| Plekha7 |
T |
C |
7: 115,747,559 (GRCm39) |
N710D |
probably benign |
Het |
| Ppp1r16b |
C |
T |
2: 158,599,174 (GRCm39) |
T382I |
probably benign |
Het |
| Pramel15 |
T |
C |
4: 144,103,754 (GRCm39) |
D124G |
probably benign |
Het |
| Ptprz1 |
A |
T |
6: 22,961,622 (GRCm39) |
Y111F |
probably benign |
Het |
| Rbbp8 |
A |
G |
18: 11,865,277 (GRCm39) |
E722G |
possibly damaging |
Het |
| Rimbp3 |
A |
G |
16: 17,028,190 (GRCm39) |
D538G |
probably benign |
Het |
| Rims1 |
A |
G |
1: 22,511,901 (GRCm39) |
S551P |
probably damaging |
Het |
| Rsrc1 |
A |
G |
3: 67,088,164 (GRCm39) |
D166G |
probably damaging |
Het |
| Selenon |
T |
C |
4: 134,270,154 (GRCm39) |
N350S |
probably benign |
Het |
| Sh3gl2 |
T |
A |
4: 85,295,802 (GRCm39) |
L168H |
probably damaging |
Het |
| Smc3 |
T |
C |
19: 53,617,682 (GRCm39) |
Y560H |
probably benign |
Het |
| Syce1 |
C |
T |
7: 140,359,281 (GRCm39) |
D147N |
possibly damaging |
Het |
| Syt10 |
A |
C |
15: 89,675,008 (GRCm39) |
V446G |
probably damaging |
Het |
| Taar1 |
T |
C |
10: 23,796,722 (GRCm39) |
L140P |
probably benign |
Het |
| Tfpi2 |
C |
A |
6: 3,968,032 (GRCm39) |
C36F |
probably damaging |
Het |
| Thoc5 |
G |
A |
11: 4,876,237 (GRCm39) |
|
probably null |
Het |
| Tnrc6c |
T |
A |
11: 117,612,800 (GRCm39) |
N319K |
probably benign |
Het |
| Trhr2 |
C |
T |
8: 123,085,418 (GRCm39) |
D189N |
probably damaging |
Het |
| Trim42 |
A |
T |
9: 97,245,474 (GRCm39) |
F442Y |
probably damaging |
Het |
| Ubap2 |
G |
A |
4: 41,196,033 (GRCm39) |
T949I |
possibly damaging |
Het |
| Ugt1a8 |
T |
C |
1: 88,016,024 (GRCm39) |
F146L |
probably benign |
Het |
| Vmn2r80 |
C |
A |
10: 79,030,153 (GRCm39) |
Q660K |
probably damaging |
Het |
| Vstm2b |
C |
T |
7: 40,578,800 (GRCm39) |
T258I |
possibly damaging |
Het |
| Washc2 |
T |
C |
6: 116,197,544 (GRCm39) |
L259P |
possibly damaging |
Het |
| Zscan18 |
A |
T |
7: 12,508,671 (GRCm39) |
|
probably benign |
Het |
| Zzef1 |
T |
G |
11: 72,757,525 (GRCm39) |
Y1193* |
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 |
|
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 |
|
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'- CTTGAATGAGCCCAACCCTC -3'
(R):5'- CTCTGAACTTGCTGATTAGGGAG -3'
Sequencing Primer
(F):5'- CTCAACAATCAACCATGGGAAGTAGG -3'
(R):5'- CCTGAGATTGGCTTTTCC -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation