Incidental Mutation 'R4255:Spata31d1c'
| ID |
321798 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| MMRRC Submission |
041068-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4255 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65183531 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Leucine
at position 358
(F358L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099427
AA Change: F358L
PolyPhen 2
Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: F358L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
63 |
148 |
2.4e-31 |
PFAM |
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
380 |
742 |
1.4e-120 |
PFAM |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.5%
|
| Validation Efficiency |
93% (50/54) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb11 |
T |
C |
2: 69,136,949 (GRCm39) |
I171V |
probably benign |
Het |
| Actc1 |
T |
C |
2: 113,879,697 (GRCm39) |
N254S |
probably benign |
Het |
| Adgrg1 |
T |
G |
8: 95,732,530 (GRCm39) |
|
probably null |
Het |
| Ankrd7 |
T |
A |
6: 18,869,880 (GRCm39) |
|
probably null |
Het |
| Baz2b |
T |
C |
2: 59,750,916 (GRCm39) |
|
probably benign |
Het |
| Brca2 |
A |
G |
5: 150,464,634 (GRCm39) |
E1466G |
possibly damaging |
Het |
| Dagla |
G |
A |
19: 10,234,316 (GRCm39) |
R332* |
probably null |
Het |
| Dnah5 |
T |
A |
15: 28,438,248 (GRCm39) |
S3960T |
probably benign |
Het |
| Dnhd1 |
T |
A |
7: 105,362,205 (GRCm39) |
L3689M |
probably damaging |
Het |
| Epn1 |
T |
A |
7: 5,100,637 (GRCm39) |
L530Q |
probably damaging |
Het |
| Fgf17 |
C |
A |
14: 70,879,162 (GRCm39) |
|
probably null |
Het |
| Fgfr4 |
G |
A |
13: 55,314,064 (GRCm39) |
V593M |
probably damaging |
Het |
| Fmo4 |
A |
G |
1: 162,621,895 (GRCm39) |
C439R |
probably benign |
Het |
| Fndc3b |
T |
C |
3: 27,555,556 (GRCm39) |
K333E |
possibly damaging |
Het |
| Gpc6 |
A |
G |
14: 118,188,553 (GRCm39) |
T396A |
probably benign |
Het |
| Igkv3-2 |
T |
A |
6: 70,676,045 (GRCm39) |
V118D |
probably benign |
Het |
| Mtbp |
C |
A |
15: 55,484,081 (GRCm39) |
S470R |
possibly damaging |
Het |
| Myh8 |
A |
G |
11: 67,190,560 (GRCm39) |
D1295G |
probably benign |
Het |
| Myo1h |
T |
C |
5: 114,468,198 (GRCm39) |
I331T |
possibly damaging |
Het |
| Myo7a |
T |
G |
7: 97,721,171 (GRCm39) |
M1265L |
probably damaging |
Het |
| Or13a18 |
C |
A |
7: 140,190,500 (GRCm39) |
Y132* |
probably null |
Het |
| Or2ak7 |
A |
T |
11: 58,574,791 (GRCm39) |
I31F |
probably damaging |
Het |
| Or2o1 |
G |
A |
11: 49,051,262 (GRCm39) |
W140* |
probably null |
Het |
| Pak1ip1 |
A |
G |
13: 41,164,632 (GRCm39) |
|
probably benign |
Het |
| Pcdha11 |
A |
G |
18: 37,145,843 (GRCm39) |
T645A |
probably benign |
Het |
| Peg12 |
A |
G |
7: 62,113,479 (GRCm39) |
I206T |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,664,158 (GRCm39) |
V140A |
probably damaging |
Het |
| Pramel29 |
T |
A |
4: 143,934,054 (GRCm39) |
D351V |
possibly damaging |
Het |
| Prrc2c |
C |
A |
1: 162,533,895 (GRCm39) |
|
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,082,241 (GRCm39) |
E70G |
probably benign |
Het |
| Rabl6 |
C |
T |
2: 25,474,791 (GRCm39) |
E640K |
possibly damaging |
Het |
| Rasd2 |
G |
A |
8: 75,948,538 (GRCm39) |
E155K |
probably damaging |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Sdf4 |
A |
G |
4: 156,085,214 (GRCm39) |
H183R |
probably benign |
Het |
| Slc12a9 |
C |
T |
5: 137,319,694 (GRCm39) |
R607H |
probably damaging |
Het |
| Slc38a1 |
T |
C |
15: 96,483,431 (GRCm39) |
D299G |
probably benign |
Het |
| Slc4a10 |
A |
G |
2: 62,112,280 (GRCm39) |
N657S |
probably benign |
Het |
| Srbd1 |
A |
T |
17: 86,410,350 (GRCm39) |
S527R |
possibly damaging |
Het |
| Stag3 |
T |
C |
5: 138,289,143 (GRCm39) |
V243A |
probably damaging |
Het |
| Tefm |
A |
T |
11: 80,031,075 (GRCm39) |
S54T |
probably damaging |
Het |
| Terf1 |
T |
C |
1: 15,875,903 (GRCm39) |
M1T |
probably null |
Het |
| Thsd7b |
G |
A |
1: 129,688,024 (GRCm39) |
S645N |
possibly damaging |
Het |
| Trmt13 |
G |
T |
3: 116,376,337 (GRCm39) |
S285* |
probably null |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Ush2a |
C |
T |
1: 188,492,040 (GRCm39) |
R3110* |
probably null |
Het |
| Vnn3 |
T |
C |
10: 23,741,720 (GRCm39) |
Y342H |
probably benign |
Het |
|
| Other mutations in Spata31d1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Spata31d1c
|
APN |
13 |
65,183,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Spata31d1c
|
APN |
13 |
65,183,180 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02947:Spata31d1c
|
APN |
13 |
65,182,759 (GRCm39) |
nonsense |
probably null |
|
|
IGL03133:Spata31d1c
|
APN |
13 |
65,182,799 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03176:Spata31d1c
|
APN |
13 |
65,184,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03183:Spata31d1c
|
APN |
13 |
65,183,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03206:Spata31d1c
|
APN |
13 |
65,183,407 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4382001:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0054:Spata31d1c
|
UTSW |
13 |
65,180,876 (GRCm39) |
start gained |
probably benign |
|
|
R0959:Spata31d1c
|
UTSW |
13 |
65,184,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1232:Spata31d1c
|
UTSW |
13 |
65,184,428 (GRCm39) |
missense |
probably benign |
|
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1381:Spata31d1c
|
UTSW |
13 |
65,184,368 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1573:Spata31d1c
|
UTSW |
13 |
65,182,883 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1582:Spata31d1c
|
UTSW |
13 |
65,181,038 (GRCm39) |
missense |
probably benign |
|
|
R1639:Spata31d1c
|
UTSW |
13 |
65,183,853 (GRCm39) |
missense |
probably benign |
|
|
R1716:Spata31d1c
|
UTSW |
13 |
65,181,030 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1781:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1907:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2012:Spata31d1c
|
UTSW |
13 |
65,183,041 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2152:Spata31d1c
|
UTSW |
13 |
65,181,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2211:Spata31d1c
|
UTSW |
13 |
65,183,753 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2571:Spata31d1c
|
UTSW |
13 |
65,184,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Spata31d1c
|
UTSW |
13 |
65,181,005 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3978:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3979:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3980:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3981:Spata31d1c
|
UTSW |
13 |
65,182,925 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4014:Spata31d1c
|
UTSW |
13 |
65,183,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,183,502 (GRCm39) |
nonsense |
probably null |
|
|
R4592:Spata31d1c
|
UTSW |
13 |
65,183,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4597:Spata31d1c
|
UTSW |
13 |
65,183,427 (GRCm39) |
nonsense |
probably null |
|
|
R4624:Spata31d1c
|
UTSW |
13 |
65,184,411 (GRCm39) |
missense |
probably benign |
|
|
R4641:Spata31d1c
|
UTSW |
13 |
65,182,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4863:Spata31d1c
|
UTSW |
13 |
65,183,604 (GRCm39) |
nonsense |
probably null |
|
|
R5084:Spata31d1c
|
UTSW |
13 |
65,182,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5152:Spata31d1c
|
UTSW |
13 |
65,183,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Spata31d1c
|
UTSW |
13 |
65,183,248 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5267:Spata31d1c
|
UTSW |
13 |
65,183,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5615:Spata31d1c
|
UTSW |
13 |
65,183,078 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5755:Spata31d1c
|
UTSW |
13 |
65,184,341 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5935:Spata31d1c
|
UTSW |
13 |
65,184,894 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6017:Spata31d1c
|
UTSW |
13 |
65,182,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6131:Spata31d1c
|
UTSW |
13 |
65,183,485 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6359:Spata31d1c
|
UTSW |
13 |
65,183,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6723:Spata31d1c
|
UTSW |
13 |
65,183,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7028:Spata31d1c
|
UTSW |
13 |
65,183,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7336:Spata31d1c
|
UTSW |
13 |
65,183,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Spata31d1c
|
UTSW |
13 |
65,183,175 (GRCm39) |
missense |
probably benign |
|
|
R7552:Spata31d1c
|
UTSW |
13 |
65,183,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7605:Spata31d1c
|
UTSW |
13 |
65,183,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7666:Spata31d1c
|
UTSW |
13 |
65,183,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8403:Spata31d1c
|
UTSW |
13 |
65,184,044 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8445:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8513:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8515:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8523:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8799:Spata31d1c
|
UTSW |
13 |
65,184,140 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R8817:Spata31d1c
|
UTSW |
13 |
65,182,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8854:Spata31d1c
|
UTSW |
13 |
65,183,804 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8917:Spata31d1c
|
UTSW |
13 |
65,183,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9084:Spata31d1c
|
UTSW |
13 |
65,182,959 (GRCm39) |
missense |
probably benign |
|
|
R9197:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9201:Spata31d1c
|
UTSW |
13 |
65,184,773 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9261:Spata31d1c
|
UTSW |
13 |
65,184,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Spata31d1c
|
UTSW |
13 |
65,184,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Spata31d1c
|
UTSW |
13 |
65,184,741 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTCTTCCCAGTTGGAGTCAG -3'
(R):5'- GGGAACTGTCAGTCAACACAG -3'
Sequencing Primer
(F):5'- GTTGGAGTCAGCACATCCAGTTAAC -3'
(R):5'- GTAGCAATAGAGTTCATGGACTCAC -3'
|
| Posted On |
2015-06-20 |
Incidental Mutation