Incidental Mutation 'R4513:Spata31d1d'
| ID |
334529 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1d
|
| Ensembl Gene |
ENSMUSG00000043986 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1D |
| Synonyms |
4932411G14Rik, Fam75d1d |
| MMRRC Submission |
041759-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4513 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59873739-59879566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59876368 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 389
(Q389R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128200
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000052978]
|
| AlphaFold |
E9Q5W2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000052978
AA Change: Q389R
PolyPhen 2
Score 0.317 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000128200
Gene: ENSMUSG00000043986
AA Change: Q389R
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
21 |
43 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
70 |
155 |
5.4e-28 |
PFAM |
|
low complexity region
|
228 |
238 |
N/A |
INTRINSIC |
|
low complexity region
|
284 |
298 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
383 |
733 |
2.6e-93 |
PFAM |
|
low complexity region
|
1017 |
1030 |
N/A |
INTRINSIC |
|
low complexity region
|
1111 |
1129 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224724
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 96.9%
- 20x: 94.0%
|
| Validation Efficiency |
100% (56/56) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre1 |
A |
G |
17: 57,717,947 (GRCm39) |
I320V |
probably benign |
Het |
| Akap6 |
T |
C |
12: 52,842,787 (GRCm39) |
V45A |
probably benign |
Het |
| Ankrd28 |
A |
T |
14: 31,465,242 (GRCm39) |
S312T |
probably damaging |
Het |
| Cenpn |
A |
G |
8: 117,660,135 (GRCm39) |
Y68C |
probably damaging |
Het |
| Cfap96 |
G |
T |
8: 46,421,175 (GRCm39) |
T116K |
probably damaging |
Het |
| Cntn3 |
A |
T |
6: 102,145,943 (GRCm39) |
I966N |
probably benign |
Het |
| D630003M21Rik |
T |
C |
2: 158,046,722 (GRCm39) |
T752A |
probably benign |
Het |
| Dmxl2 |
A |
C |
9: 54,327,168 (GRCm39) |
S952R |
probably null |
Het |
| Dop1a |
G |
A |
9: 86,402,612 (GRCm39) |
E1271K |
probably benign |
Het |
| Fgfr3 |
A |
G |
5: 33,880,460 (GRCm39) |
|
probably benign |
Het |
| Gm10110 |
A |
G |
14: 90,135,151 (GRCm39) |
|
noncoding transcript |
Het |
| Got1l1 |
C |
T |
8: 27,688,513 (GRCm39) |
M279I |
probably benign |
Het |
| Guf1 |
T |
C |
5: 69,719,005 (GRCm39) |
V230A |
probably benign |
Het |
| Hsd17b14 |
C |
T |
7: 45,212,339 (GRCm39) |
L124F |
probably benign |
Het |
| Id3 |
G |
T |
4: 135,871,669 (GRCm39) |
|
probably benign |
Het |
| Itga8 |
T |
C |
2: 12,187,547 (GRCm39) |
S711G |
probably benign |
Het |
| Lgr4 |
T |
C |
2: 109,842,361 (GRCm39) |
M782T |
possibly damaging |
Het |
| Lsm12 |
T |
C |
11: 102,057,909 (GRCm39) |
|
probably null |
Het |
| Map1b |
T |
A |
13: 99,580,741 (GRCm39) |
D117V |
probably damaging |
Het |
| Map3k11 |
A |
G |
19: 5,752,238 (GRCm39) |
T807A |
probably damaging |
Het |
| Mapk14 |
T |
C |
17: 28,943,798 (GRCm39) |
F129S |
probably damaging |
Het |
| Mapkbp1 |
T |
A |
2: 119,854,174 (GRCm39) |
I1257N |
possibly damaging |
Het |
| Mcm3 |
A |
G |
1: 20,880,456 (GRCm39) |
Y459H |
probably damaging |
Het |
| Mkln1 |
T |
C |
6: 31,410,093 (GRCm39) |
|
probably benign |
Het |
| Msh5 |
A |
T |
17: 35,249,664 (GRCm39) |
I627N |
possibly damaging |
Het |
| Nfkbiz |
T |
C |
16: 55,637,204 (GRCm39) |
H488R |
probably benign |
Het |
| Nrg1 |
G |
T |
8: 32,967,105 (GRCm39) |
|
probably benign |
Het |
| Or1j19 |
A |
G |
2: 36,676,782 (GRCm39) |
M82V |
probably benign |
Het |
| Or51q1 |
T |
C |
7: 103,628,648 (GRCm39) |
V89A |
probably benign |
Het |
| Or51t4 |
T |
C |
7: 102,597,945 (GRCm39) |
L81P |
probably damaging |
Het |
| Or5b120 |
A |
T |
19: 13,479,986 (GRCm39) |
Y93F |
probably benign |
Het |
| Plec |
C |
T |
15: 76,070,418 (GRCm39) |
V931M |
probably damaging |
Het |
| Plekhg4 |
T |
A |
8: 106,107,034 (GRCm39) |
C910S |
probably damaging |
Het |
| Ppp1r18 |
A |
G |
17: 36,179,196 (GRCm39) |
E357G |
probably damaging |
Het |
| Pramel23 |
T |
C |
4: 143,424,718 (GRCm39) |
M242V |
probably benign |
Het |
| Rbm11 |
T |
C |
16: 75,393,475 (GRCm39) |
F57S |
probably damaging |
Het |
| Sbp |
G |
A |
17: 24,164,286 (GRCm39) |
G183D |
probably benign |
Het |
| Skint5 |
A |
G |
4: 113,599,382 (GRCm39) |
V719A |
unknown |
Het |
| Slc16a7 |
T |
G |
10: 125,069,308 (GRCm39) |
|
probably null |
Het |
| Slc29a1 |
A |
C |
17: 45,899,992 (GRCm39) |
Y232* |
probably null |
Het |
| Slc7a8 |
C |
G |
14: 54,973,247 (GRCm39) |
G240A |
possibly damaging |
Het |
| Spanxn4 |
A |
T |
12: 62,734,886 (GRCm39) |
|
noncoding transcript |
Het |
| Srgap1 |
A |
G |
10: 121,706,231 (GRCm39) |
|
probably null |
Het |
| St6gal2 |
A |
T |
17: 55,790,018 (GRCm39) |
N351Y |
probably benign |
Het |
| Tle2 |
A |
G |
10: 81,423,394 (GRCm39) |
D491G |
probably damaging |
Het |
| Tmem33 |
T |
C |
5: 67,443,468 (GRCm39) |
V215A |
probably benign |
Het |
| Trav6-3 |
A |
G |
14: 53,667,548 (GRCm39) |
T7A |
probably benign |
Het |
| Ube2q2 |
C |
A |
9: 55,057,084 (GRCm39) |
P56T |
probably benign |
Het |
| Unc79 |
T |
C |
12: 102,988,019 (GRCm39) |
V208A |
probably damaging |
Het |
| Xkr7 |
T |
C |
2: 152,896,553 (GRCm39) |
I469T |
probably benign |
Het |
|
| Other mutations in Spata31d1d |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:Spata31d1d
|
APN |
13 |
59,878,029 (GRCm39) |
splice site |
probably benign |
|
|
IGL02399:Spata31d1d
|
APN |
13 |
59,877,954 (GRCm39) |
splice site |
probably benign |
|
|
IGL02531:Spata31d1d
|
APN |
13 |
59,875,748 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02687:Spata31d1d
|
APN |
13 |
59,875,678 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL02815:Spata31d1d
|
APN |
13 |
59,874,678 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL02893:Spata31d1d
|
APN |
13 |
59,873,793 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
IGL03037:Spata31d1d
|
APN |
13 |
59,873,947 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL02796:Spata31d1d
|
UTSW |
13 |
59,876,057 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0612:Spata31d1d
|
UTSW |
13 |
59,875,787 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1345:Spata31d1d
|
UTSW |
13 |
59,873,838 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R1572:Spata31d1d
|
UTSW |
13 |
59,876,005 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1736:Spata31d1d
|
UTSW |
13 |
59,874,311 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1750:Spata31d1d
|
UTSW |
13 |
59,876,509 (GRCm39) |
missense |
probably benign |
0.33 |
|
R1894:Spata31d1d
|
UTSW |
13 |
59,875,936 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2202:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2203:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2204:Spata31d1d
|
UTSW |
13 |
59,879,435 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R2913:Spata31d1d
|
UTSW |
13 |
59,874,769 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R3942:Spata31d1d
|
UTSW |
13 |
59,875,276 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4824:Spata31d1d
|
UTSW |
13 |
59,877,055 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4959:Spata31d1d
|
UTSW |
13 |
59,875,102 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Spata31d1d
|
UTSW |
13 |
59,875,334 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5406:Spata31d1d
|
UTSW |
13 |
59,876,592 (GRCm39) |
missense |
probably benign |
0.33 |
|
R5618:Spata31d1d
|
UTSW |
13 |
59,874,214 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5688:Spata31d1d
|
UTSW |
13 |
59,874,322 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5741:Spata31d1d
|
UTSW |
13 |
59,876,500 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5867:Spata31d1d
|
UTSW |
13 |
59,875,054 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R5930:Spata31d1d
|
UTSW |
13 |
59,874,829 (GRCm39) |
missense |
probably benign |
|
|
R6263:Spata31d1d
|
UTSW |
13 |
59,873,797 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6267:Spata31d1d
|
UTSW |
13 |
59,876,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6296:Spata31d1d
|
UTSW |
13 |
59,876,278 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6597:Spata31d1d
|
UTSW |
13 |
59,873,871 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6985:Spata31d1d
|
UTSW |
13 |
59,879,429 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7032:Spata31d1d
|
UTSW |
13 |
59,876,046 (GRCm39) |
missense |
probably benign |
|
|
R7174:Spata31d1d
|
UTSW |
13 |
59,876,394 (GRCm39) |
missense |
possibly damaging |
0.72 |
|
R7322:Spata31d1d
|
UTSW |
13 |
59,874,790 (GRCm39) |
missense |
probably benign |
|
|
R7444:Spata31d1d
|
UTSW |
13 |
59,875,007 (GRCm39) |
missense |
probably benign |
0.33 |
|
R7946:Spata31d1d
|
UTSW |
13 |
59,878,606 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8206:Spata31d1d
|
UTSW |
13 |
59,879,344 (GRCm39) |
missense |
probably benign |
0.03 |
|
R8912:Spata31d1d
|
UTSW |
13 |
59,875,136 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R8995:Spata31d1d
|
UTSW |
13 |
59,874,421 (GRCm39) |
missense |
probably benign |
0.33 |
|
R9215:Spata31d1d
|
UTSW |
13 |
59,875,823 (GRCm39) |
missense |
probably benign |
0.32 |
|
R9800:Spata31d1d
|
UTSW |
13 |
59,874,637 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
Z1176:Spata31d1d
|
UTSW |
13 |
59,873,981 (GRCm39) |
missense |
probably benign |
0.18 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGAGATTGAGTCAAGGTCTGTG -3'
(R):5'- TCACAGTGCCCCAGAAAGTC -3'
Sequencing Primer
(F):5'- ATTGTCTCTCAGGCAAGGGCAG -3'
(R):5'- CCAGAAAGTCCTGAAAATACTTGAG -3'
|
| Posted On |
2015-08-18 |
Incidental Mutation