Incidental Mutation 'R8379:Spata31d1a'
| ID |
646884 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1a
|
| Ensembl Gene |
ENSMUSG00000050876 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1A |
| Synonyms |
1700013B16Rik, Fam75d3, Fam75d1a |
| MMRRC Submission |
067810-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R8379 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 59850668 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Leucine
at position 487
(M487L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128533
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
| AlphaFold |
E9QA35 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066510
AA Change: M487L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000128533
Gene: ENSMUSG00000050876
AA Change: M487L
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
66 |
150 |
3.7e-25 |
PFAM |
|
low complexity region
|
196 |
217 |
N/A |
INTRINSIC |
|
low complexity region
|
240 |
266 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
400 |
772 |
2.9e-108 |
PFAM |
|
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224469
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000224982
AA Change: M487L
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
| Validation Efficiency |
98% (61/62) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aipl1 |
T |
C |
11: 71,920,126 (GRCm39) |
D314G |
probably benign |
Het |
| Ankrd12 |
T |
G |
17: 66,290,939 (GRCm39) |
E1498A |
probably benign |
Het |
| Appl1 |
A |
T |
14: 26,647,372 (GRCm39) |
|
probably null |
Het |
| Auh |
A |
G |
13: 53,063,349 (GRCm39) |
*116R |
probably null |
Het |
| Ccdc7a |
T |
A |
8: 129,691,417 (GRCm39) |
H402L |
probably benign |
Het |
| Ccr4 |
T |
C |
9: 114,321,235 (GRCm39) |
T277A |
probably benign |
Het |
| Col18a1 |
C |
T |
10: 76,889,072 (GRCm39) |
V1302I |
probably benign |
Het |
| Csnk1a1 |
T |
C |
18: 61,688,925 (GRCm39) |
I35T |
probably benign |
Het |
| Csnk1e |
T |
C |
15: 79,304,882 (GRCm39) |
R374G |
possibly damaging |
Het |
| Ddx11 |
A |
G |
17: 66,437,020 (GRCm39) |
R105G |
probably benign |
Het |
| Denr |
C |
A |
5: 124,065,124 (GRCm39) |
T159K |
possibly damaging |
Het |
| Dmp1 |
C |
A |
5: 104,359,571 (GRCm39) |
Y82* |
probably null |
Het |
| Dok3 |
A |
G |
13: 55,671,833 (GRCm39) |
V246A |
probably benign |
Het |
| Endov |
A |
C |
11: 119,382,723 (GRCm39) |
K57Q |
possibly damaging |
Het |
| Fam83a |
A |
G |
15: 57,873,196 (GRCm39) |
T342A |
probably benign |
Het |
| Fbln1 |
G |
A |
15: 85,116,773 (GRCm39) |
C275Y |
probably damaging |
Het |
| Fhip1b |
T |
C |
7: 105,034,342 (GRCm39) |
N430D |
possibly damaging |
Het |
| Foxi1 |
A |
G |
11: 34,157,530 (GRCm39) |
I165T |
possibly damaging |
Het |
| Gm14496 |
A |
T |
2: 181,642,275 (GRCm39) |
I649F |
probably damaging |
Het |
| Grin2b |
A |
G |
6: 135,899,967 (GRCm39) |
S305P |
probably damaging |
Het |
| Grm1 |
G |
A |
10: 10,564,879 (GRCm39) |
T1143M |
possibly damaging |
Het |
| Ifi202b |
C |
A |
1: 173,802,298 (GRCm39) |
|
probably null |
Het |
| Klhl32 |
A |
T |
4: 24,629,194 (GRCm39) |
D491E |
probably damaging |
Het |
| Klk1b1 |
C |
T |
7: 43,619,767 (GRCm39) |
R109C |
possibly damaging |
Het |
| Krt13 |
A |
G |
11: 100,009,706 (GRCm39) |
L358P |
probably damaging |
Het |
| Limk2 |
G |
A |
11: 3,321,162 (GRCm39) |
|
probably benign |
Het |
| Mdn1 |
A |
G |
4: 32,756,453 (GRCm39) |
D4720G |
probably null |
Het |
| Mkln1 |
T |
A |
6: 31,435,900 (GRCm39) |
Y286* |
probably null |
Het |
| Muc6 |
C |
A |
7: 141,230,579 (GRCm39) |
E1143* |
probably null |
Het |
| Myh15 |
A |
G |
16: 48,901,551 (GRCm39) |
I242M |
probably benign |
Het |
| Noc4l |
T |
G |
5: 110,798,828 (GRCm39) |
K241Q |
probably damaging |
Het |
| Nup88 |
C |
A |
11: 70,860,607 (GRCm39) |
L57F |
possibly damaging |
Het |
| Obsl1 |
G |
T |
1: 75,480,501 (GRCm39) |
F374L |
possibly damaging |
Het |
| Or51aa2 |
A |
G |
7: 103,188,183 (GRCm39) |
I86T |
possibly damaging |
Het |
| Orm1 |
A |
T |
4: 63,264,355 (GRCm39) |
D137V |
probably damaging |
Het |
| Osbpl2 |
T |
A |
2: 179,778,895 (GRCm39) |
D9E |
probably damaging |
Het |
| P4ha3 |
G |
T |
7: 99,942,986 (GRCm39) |
D124Y |
probably damaging |
Het |
| Poteg |
T |
C |
8: 27,943,354 (GRCm39) |
V208A |
probably benign |
Het |
| Ppfibp1 |
A |
G |
6: 146,931,843 (GRCm39) |
D963G |
probably damaging |
Het |
| Prdx6 |
G |
T |
1: 161,078,660 (GRCm39) |
D9E |
probably benign |
Het |
| Prrc2b |
C |
A |
2: 32,104,666 (GRCm39) |
N1381K |
probably damaging |
Het |
| Ptpn14 |
T |
A |
1: 189,565,598 (GRCm39) |
V222E |
possibly damaging |
Het |
| Rasal1 |
C |
T |
5: 120,804,420 (GRCm39) |
R431C |
probably benign |
Het |
| Rexo5 |
A |
T |
7: 119,433,508 (GRCm39) |
M422L |
probably benign |
Het |
| Rnf17 |
TG |
T |
14: 56,661,999 (GRCm39) |
132 |
probably null |
Het |
| Robo2 |
A |
T |
16: 73,730,588 (GRCm39) |
I1008N |
probably damaging |
Het |
| Sidt1 |
T |
A |
16: 44,106,755 (GRCm39) |
Y225F |
probably benign |
Het |
| Slc6a15 |
A |
T |
10: 103,225,048 (GRCm39) |
E45D |
probably benign |
Het |
| St6galnac1 |
C |
A |
11: 116,666,325 (GRCm39) |
|
probably benign |
Het |
| Tcp11l2 |
A |
G |
10: 84,449,469 (GRCm39) |
Y478C |
probably damaging |
Het |
| Tdrd12 |
G |
T |
7: 35,223,482 (GRCm39) |
C67* |
probably null |
Het |
| Tead2 |
G |
A |
7: 44,867,505 (GRCm39) |
G78D |
probably damaging |
Het |
| Tfpi2 |
A |
T |
6: 3,963,849 (GRCm39) |
N194K |
probably damaging |
Het |
| Timd2 |
A |
G |
11: 46,568,027 (GRCm39) |
|
probably null |
Het |
| Tmem270 |
T |
C |
5: 134,930,557 (GRCm39) |
T235A |
probably benign |
Het |
| Tnrc18 |
T |
C |
5: 142,774,157 (GRCm39) |
D224G |
|
Het |
| Tsga10 |
G |
T |
1: 37,840,959 (GRCm39) |
Q416K |
probably benign |
Het |
| Ulk1 |
C |
A |
5: 110,935,531 (GRCm39) |
L911F |
probably damaging |
Het |
| Usp8 |
T |
C |
2: 126,584,491 (GRCm39) |
S567P |
probably benign |
Het |
| Vmn2r-ps158 |
C |
T |
7: 42,697,270 (GRCm39) |
P776S |
probably damaging |
Het |
| Zdhhc3 |
A |
C |
9: 122,918,143 (GRCm39) |
C129G |
probably damaging |
Het |
|
| Other mutations in Spata31d1a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00915:Spata31d1a
|
APN |
13 |
59,849,999 (GRCm39) |
missense |
probably benign |
0.27 |
|
IGL01397:Spata31d1a
|
APN |
13 |
59,849,552 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL01448:Spata31d1a
|
APN |
13 |
59,849,373 (GRCm39) |
missense |
probably benign |
0.06 |
|
IGL02715:Spata31d1a
|
APN |
13 |
59,851,549 (GRCm39) |
missense |
probably benign |
0.44 |
|
IGL02983:Spata31d1a
|
APN |
13 |
59,851,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
|
IGL03224:Spata31d1a
|
APN |
13 |
59,848,840 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
PIT1430001:Spata31d1a
|
UTSW |
13 |
59,849,010 (GRCm39) |
missense |
probably benign |
|
|
R0302:Spata31d1a
|
UTSW |
13 |
59,850,964 (GRCm39) |
missense |
probably benign |
|
|
R0387:Spata31d1a
|
UTSW |
13 |
59,851,315 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0464:Spata31d1a
|
UTSW |
13 |
59,849,573 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R0606:Spata31d1a
|
UTSW |
13 |
59,850,245 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0617:Spata31d1a
|
UTSW |
13 |
59,850,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R0691:Spata31d1a
|
UTSW |
13 |
59,848,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0746:Spata31d1a
|
UTSW |
13 |
59,850,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1019:Spata31d1a
|
UTSW |
13 |
59,850,182 (GRCm39) |
missense |
probably benign |
|
|
R1397:Spata31d1a
|
UTSW |
13 |
59,852,853 (GRCm39) |
splice site |
probably benign |
|
|
R1543:Spata31d1a
|
UTSW |
13 |
59,850,056 (GRCm39) |
missense |
probably benign |
|
|
R1619:Spata31d1a
|
UTSW |
13 |
59,850,247 (GRCm39) |
nonsense |
probably null |
|
|
R1799:Spata31d1a
|
UTSW |
13 |
59,851,216 (GRCm39) |
missense |
probably benign |
|
|
R1820:Spata31d1a
|
UTSW |
13 |
59,849,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1885:Spata31d1a
|
UTSW |
13 |
59,849,821 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1909:Spata31d1a
|
UTSW |
13 |
59,850,509 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2012:Spata31d1a
|
UTSW |
13 |
59,850,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R2099:Spata31d1a
|
UTSW |
13 |
59,853,885 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R2132:Spata31d1a
|
UTSW |
13 |
59,848,857 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2224:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2225:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2226:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
|
R2358:Spata31d1a
|
UTSW |
13 |
59,851,702 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2495:Spata31d1a
|
UTSW |
13 |
59,849,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R3081:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R3151:Spata31d1a
|
UTSW |
13 |
59,849,180 (GRCm39) |
missense |
probably benign |
0.06 |
|
R3971:Spata31d1a
|
UTSW |
13 |
59,849,971 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R4156:Spata31d1a
|
UTSW |
13 |
59,852,861 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4760:Spata31d1a
|
UTSW |
13 |
59,849,459 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4767:Spata31d1a
|
UTSW |
13 |
59,848,969 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4877:Spata31d1a
|
UTSW |
13 |
59,850,337 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4894:Spata31d1a
|
UTSW |
13 |
59,849,542 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4961:Spata31d1a
|
UTSW |
13 |
59,849,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R4990:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4991:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4992:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5088:Spata31d1a
|
UTSW |
13 |
59,848,966 (GRCm39) |
splice site |
probably null |
|
|
R5094:Spata31d1a
|
UTSW |
13 |
59,852,858 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5330:Spata31d1a
|
UTSW |
13 |
59,848,217 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5587:Spata31d1a
|
UTSW |
13 |
59,850,432 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5832:Spata31d1a
|
UTSW |
13 |
59,849,380 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6073:Spata31d1a
|
UTSW |
13 |
59,850,808 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6208:Spata31d1a
|
UTSW |
13 |
59,848,378 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6224:Spata31d1a
|
UTSW |
13 |
59,854,134 (GRCm39) |
start gained |
probably benign |
|
|
R6250:Spata31d1a
|
UTSW |
13 |
59,849,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R6359:Spata31d1a
|
UTSW |
13 |
59,850,920 (GRCm39) |
missense |
probably benign |
|
|
R6806:Spata31d1a
|
UTSW |
13 |
59,851,032 (GRCm39) |
missense |
probably benign |
|
|
R6848:Spata31d1a
|
UTSW |
13 |
59,849,777 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6851:Spata31d1a
|
UTSW |
13 |
59,851,725 (GRCm39) |
missense |
unknown |
|
|
R6985:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7007:Spata31d1a
|
UTSW |
13 |
59,851,448 (GRCm39) |
missense |
probably benign |
|
|
R7037:Spata31d1a
|
UTSW |
13 |
59,848,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7124:Spata31d1a
|
UTSW |
13 |
59,850,301 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7271:Spata31d1a
|
UTSW |
13 |
59,849,913 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7346:Spata31d1a
|
UTSW |
13 |
59,851,015 (GRCm39) |
missense |
probably benign |
|
|
R7556:Spata31d1a
|
UTSW |
13 |
59,849,798 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7581:Spata31d1a
|
UTSW |
13 |
59,851,953 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7891:Spata31d1a
|
UTSW |
13 |
59,848,139 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R7995:Spata31d1a
|
UTSW |
13 |
59,848,924 (GRCm39) |
missense |
probably benign |
0.06 |
|
R8497:Spata31d1a
|
UTSW |
13 |
59,848,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R8837:Spata31d1a
|
UTSW |
13 |
59,850,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9108:Spata31d1a
|
UTSW |
13 |
59,850,982 (GRCm39) |
missense |
probably benign |
0.00 |
|
Z1177:Spata31d1a
|
UTSW |
13 |
59,850,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- GGACAGAAGCTTTCTTGGAATG -3'
(R):5'- CTGAAACATGAGGCTGCCAAC -3'
Sequencing Primer
(F):5'- CCAAGAAACTTTGCAGCGCTTTTTG -3'
(R):5'- CATGAGGCTGCCAACACAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation