Incidental Mutation 'R8082:Spata31e5'
ID |
629386 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e5
|
Ensembl Gene |
ENSMUSG00000048411 |
Gene Name |
spermatogenesis associated 31 subfamily E member 5 |
Synonyms |
Gm597, LOC210962 |
MMRRC Submission |
067515-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.059)
|
Stock # |
R8082 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 28816579 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 484
(K484N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
AlphaFold |
E9Q8J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: K484N
PolyPhen 2
Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000058140 Gene: ENSMUSG00000048411 AA Change: K484N
Domain | Start | End | E-Value | Type |
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
low complexity region
|
112 |
129 |
N/A |
INTRINSIC |
Pfam:FAM75
|
137 |
472 |
8.1e-14 |
PFAM |
low complexity region
|
664 |
675 |
N/A |
INTRINSIC |
internal_repeat_1
|
718 |
807 |
1.4e-5 |
PROSPERO |
internal_repeat_1
|
807 |
894 |
1.4e-5 |
PROSPERO |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.8%
- 20x: 94.6%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
C |
12: 71,188,895 (GRCm39) |
|
probably null |
Het |
4921524J17Rik |
G |
A |
8: 86,136,468 (GRCm39) |
A133V |
possibly damaging |
Het |
AAdacl4fm3 |
A |
C |
4: 144,441,897 (GRCm39) |
F118C |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,508 (GRCm39) |
F123L |
probably benign |
Het |
Ankrd34c |
C |
A |
9: 89,610,768 (GRCm39) |
K524N |
probably damaging |
Het |
Bicd2 |
C |
T |
13: 49,532,529 (GRCm39) |
Q372* |
probably null |
Het |
Cadps2 |
T |
A |
6: 23,323,313 (GRCm39) |
M1002L |
probably damaging |
Het |
Calcrl |
T |
C |
2: 84,200,786 (GRCm39) |
Y86C |
possibly damaging |
Het |
Ccdc141 |
T |
C |
2: 76,954,588 (GRCm39) |
I220V |
probably damaging |
Het |
Cep152 |
T |
C |
2: 125,428,313 (GRCm39) |
T773A |
probably benign |
Het |
Cgn |
A |
G |
3: 94,670,368 (GRCm39) |
F1029L |
probably benign |
Het |
Cntnap5b |
T |
A |
1: 100,306,941 (GRCm39) |
M515K |
probably benign |
Het |
Col6a6 |
T |
A |
9: 105,661,129 (GRCm39) |
K327* |
probably null |
Het |
Cspg4 |
A |
G |
9: 56,793,177 (GRCm39) |
Y304C |
probably damaging |
Het |
Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
Dync2i1 |
T |
A |
12: 116,177,127 (GRCm39) |
|
probably null |
Het |
Ecpas |
G |
A |
4: 58,807,852 (GRCm39) |
A1672V |
probably benign |
Het |
Emilin3 |
A |
C |
2: 160,750,066 (GRCm39) |
V561G |
probably damaging |
Het |
Fam3c |
T |
A |
6: 22,343,303 (GRCm39) |
D12V |
unknown |
Het |
Fam83f |
T |
C |
15: 80,574,119 (GRCm39) |
V158A |
probably damaging |
Het |
Fgfbp1 |
T |
C |
5: 44,136,621 (GRCm39) |
R224G |
probably damaging |
Het |
Gid4 |
A |
G |
11: 60,327,273 (GRCm39) |
K153E |
probably damaging |
Het |
H3c13 |
C |
A |
3: 96,176,309 (GRCm39) |
Y100* |
probably null |
Het |
Hic2 |
A |
G |
16: 17,076,563 (GRCm39) |
H464R |
probably damaging |
Het |
Ilvbl |
C |
T |
10: 78,419,987 (GRCm39) |
R602C |
probably damaging |
Het |
Ints15 |
T |
C |
5: 143,297,607 (GRCm39) |
R147G |
probably benign |
Het |
Izumo1r |
T |
A |
9: 14,805,373 (GRCm39) |
D171V |
unknown |
Het |
Kel |
T |
A |
6: 41,680,424 (GRCm39) |
E12V |
possibly damaging |
Het |
Klf15 |
T |
C |
6: 90,443,466 (GRCm39) |
S14P |
possibly damaging |
Het |
Lars1 |
T |
A |
18: 42,377,975 (GRCm39) |
S147C |
probably damaging |
Het |
Lgals1 |
C |
T |
15: 78,814,301 (GRCm39) |
A122V |
probably benign |
Het |
Lgsn |
C |
T |
1: 31,243,273 (GRCm39) |
H452Y |
probably benign |
Het |
Lrrc37a |
T |
A |
11: 103,348,248 (GRCm39) |
I2816F |
unknown |
Het |
Mcoln1 |
T |
A |
8: 3,557,420 (GRCm39) |
I142K |
probably benign |
Het |
Met |
G |
A |
6: 17,492,312 (GRCm39) |
R358Q |
probably damaging |
Het |
Mink1 |
T |
A |
11: 70,504,103 (GRCm39) |
C1276S |
possibly damaging |
Het |
Mrc1 |
T |
C |
2: 14,253,771 (GRCm39) |
M264T |
probably benign |
Het |
Mtfr2 |
C |
T |
10: 20,229,135 (GRCm39) |
T81M |
probably benign |
Het |
Myo5c |
G |
A |
9: 75,182,793 (GRCm39) |
A811T |
possibly damaging |
Het |
Naip6 |
C |
A |
13: 100,436,909 (GRCm39) |
S538I |
probably benign |
Het |
Naip6 |
T |
C |
13: 100,436,961 (GRCm39) |
T521A |
probably benign |
Het |
Ndufs3 |
T |
C |
2: 90,725,208 (GRCm39) |
D213G |
probably damaging |
Het |
Or51k1 |
T |
A |
7: 103,661,897 (GRCm39) |
E4V |
probably benign |
Het |
Or5ac20 |
T |
C |
16: 59,104,750 (GRCm39) |
T37A |
possibly damaging |
Het |
Or5g9 |
T |
C |
2: 85,551,824 (GRCm39) |
V25A |
probably benign |
Het |
Or9g8 |
T |
A |
2: 85,607,044 (GRCm39) |
L39I |
probably benign |
Het |
Otog |
C |
T |
7: 45,939,143 (GRCm39) |
R2058C |
probably damaging |
Het |
Pcdh10 |
A |
T |
3: 45,336,179 (GRCm39) |
K831M |
probably damaging |
Het |
Polr1b |
A |
G |
2: 128,957,652 (GRCm39) |
D569G |
probably benign |
Het |
Polr3b |
T |
C |
10: 84,491,927 (GRCm39) |
L362P |
probably damaging |
Het |
Rims2 |
G |
T |
15: 39,339,919 (GRCm39) |
R871L |
probably benign |
Het |
Shprh |
T |
A |
10: 11,027,555 (GRCm39) |
I54N |
probably benign |
Het |
Sipa1l2 |
T |
C |
8: 126,218,548 (GRCm39) |
D263G |
possibly damaging |
Het |
Slc43a1 |
C |
T |
2: 84,687,244 (GRCm39) |
R382C |
probably benign |
Het |
Sorbs1 |
T |
C |
19: 40,353,527 (GRCm39) |
R193G |
probably benign |
Het |
Sry |
T |
A |
Y: 2,662,589 (GRCm39) |
Q357L |
unknown |
Het |
Taar8b |
T |
A |
10: 23,967,789 (GRCm39) |
D135V |
possibly damaging |
Het |
Tekt3 |
T |
G |
11: 62,961,056 (GRCm39) |
V75G |
probably benign |
Het |
Tm7sf2 |
A |
G |
19: 6,116,351 (GRCm39) |
L198P |
probably damaging |
Het |
Tuba1a |
C |
T |
15: 98,848,742 (GRCm39) |
V177I |
probably benign |
Het |
|
Other mutations in Spata31e5 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00740:Spata31e5
|
APN |
1 |
28,817,732 (GRCm39) |
missense |
possibly damaging |
0.94 |
IGL00885:Spata31e5
|
APN |
1 |
28,815,926 (GRCm39) |
missense |
unknown |
|
IGL01296:Spata31e5
|
APN |
1 |
28,816,137 (GRCm39) |
missense |
probably benign |
0.23 |
IGL01476:Spata31e5
|
APN |
1 |
28,816,534 (GRCm39) |
missense |
probably benign |
0.04 |
IGL02125:Spata31e5
|
APN |
1 |
28,815,419 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02410:Spata31e5
|
APN |
1 |
28,817,712 (GRCm39) |
missense |
probably benign |
0.25 |
IGL02982:Spata31e5
|
APN |
1 |
28,817,135 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03031:Spata31e5
|
APN |
1 |
28,817,664 (GRCm39) |
missense |
probably benign |
0.03 |
IGL03267:Spata31e5
|
APN |
1 |
28,816,202 (GRCm39) |
missense |
probably damaging |
1.00 |
R0294:Spata31e5
|
UTSW |
1 |
28,817,744 (GRCm39) |
missense |
probably benign |
0.00 |
R0433:Spata31e5
|
UTSW |
1 |
28,816,423 (GRCm39) |
nonsense |
probably null |
|
R0485:Spata31e5
|
UTSW |
1 |
28,817,223 (GRCm39) |
missense |
probably damaging |
1.00 |
R0645:Spata31e5
|
UTSW |
1 |
28,816,011 (GRCm39) |
missense |
probably damaging |
0.99 |
R0744:Spata31e5
|
UTSW |
1 |
28,816,902 (GRCm39) |
missense |
possibly damaging |
0.46 |
R0836:Spata31e5
|
UTSW |
1 |
28,816,902 (GRCm39) |
missense |
possibly damaging |
0.46 |
R1036:Spata31e5
|
UTSW |
1 |
28,816,883 (GRCm39) |
missense |
probably benign |
0.01 |
R1302:Spata31e5
|
UTSW |
1 |
28,815,421 (GRCm39) |
missense |
probably benign |
0.00 |
R1394:Spata31e5
|
UTSW |
1 |
28,815,890 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1395:Spata31e5
|
UTSW |
1 |
28,815,890 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1514:Spata31e5
|
UTSW |
1 |
28,817,829 (GRCm39) |
missense |
possibly damaging |
0.83 |
R1535:Spata31e5
|
UTSW |
1 |
28,816,505 (GRCm39) |
missense |
probably damaging |
1.00 |
R2004:Spata31e5
|
UTSW |
1 |
28,816,260 (GRCm39) |
missense |
probably damaging |
1.00 |
R2021:Spata31e5
|
UTSW |
1 |
28,817,234 (GRCm39) |
missense |
probably damaging |
0.98 |
R2022:Spata31e5
|
UTSW |
1 |
28,817,234 (GRCm39) |
missense |
probably damaging |
0.98 |
R3115:Spata31e5
|
UTSW |
1 |
28,815,410 (GRCm39) |
missense |
possibly damaging |
0.92 |
R3615:Spata31e5
|
UTSW |
1 |
28,815,656 (GRCm39) |
missense |
probably benign |
0.26 |
R3616:Spata31e5
|
UTSW |
1 |
28,815,656 (GRCm39) |
missense |
probably benign |
0.26 |
R3862:Spata31e5
|
UTSW |
1 |
28,816,722 (GRCm39) |
missense |
probably damaging |
0.98 |
R4067:Spata31e5
|
UTSW |
1 |
28,816,712 (GRCm39) |
missense |
probably damaging |
0.98 |
R4119:Spata31e5
|
UTSW |
1 |
28,817,054 (GRCm39) |
missense |
probably damaging |
0.99 |
R4415:Spata31e5
|
UTSW |
1 |
28,816,214 (GRCm39) |
missense |
probably benign |
0.01 |
R5010:Spata31e5
|
UTSW |
1 |
28,816,943 (GRCm39) |
missense |
possibly damaging |
0.52 |
R5109:Spata31e5
|
UTSW |
1 |
28,816,636 (GRCm39) |
missense |
possibly damaging |
0.46 |
R5122:Spata31e5
|
UTSW |
1 |
28,819,141 (GRCm39) |
missense |
probably benign |
0.00 |
R5533:Spata31e5
|
UTSW |
1 |
28,817,163 (GRCm39) |
missense |
probably damaging |
1.00 |
R6085:Spata31e5
|
UTSW |
1 |
28,817,308 (GRCm39) |
missense |
possibly damaging |
0.55 |
R6116:Spata31e5
|
UTSW |
1 |
28,817,780 (GRCm39) |
missense |
probably benign |
0.01 |
R6750:Spata31e5
|
UTSW |
1 |
28,816,495 (GRCm39) |
missense |
probably damaging |
0.98 |
R6757:Spata31e5
|
UTSW |
1 |
28,819,191 (GRCm39) |
missense |
probably damaging |
0.98 |
R6774:Spata31e5
|
UTSW |
1 |
28,815,974 (GRCm39) |
missense |
probably benign |
0.00 |
R7156:Spata31e5
|
UTSW |
1 |
28,815,848 (GRCm39) |
missense |
possibly damaging |
0.53 |
R7365:Spata31e5
|
UTSW |
1 |
28,819,233 (GRCm39) |
missense |
probably benign |
0.04 |
R7739:Spata31e5
|
UTSW |
1 |
28,816,689 (GRCm39) |
missense |
possibly damaging |
0.72 |
R7996:Spata31e5
|
UTSW |
1 |
28,817,487 (GRCm39) |
missense |
probably damaging |
0.98 |
R8281:Spata31e5
|
UTSW |
1 |
28,817,225 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8514:Spata31e5
|
UTSW |
1 |
28,817,586 (GRCm39) |
missense |
probably damaging |
1.00 |
R8944:Spata31e5
|
UTSW |
1 |
28,816,155 (GRCm39) |
missense |
probably benign |
0.00 |
R9042:Spata31e5
|
UTSW |
1 |
28,816,037 (GRCm39) |
missense |
possibly damaging |
0.72 |
R9101:Spata31e5
|
UTSW |
1 |
28,815,740 (GRCm39) |
missense |
probably benign |
0.04 |
R9106:Spata31e5
|
UTSW |
1 |
28,815,975 (GRCm39) |
missense |
probably benign |
0.00 |
R9173:Spata31e5
|
UTSW |
1 |
28,816,430 (GRCm39) |
missense |
probably benign |
0.22 |
R9596:Spata31e5
|
UTSW |
1 |
28,815,688 (GRCm39) |
missense |
probably benign |
0.07 |
R9632:Spata31e5
|
UTSW |
1 |
28,817,120 (GRCm39) |
missense |
probably benign |
0.20 |
R9656:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
R9659:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
R9661:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
R9663:Spata31e5
|
UTSW |
1 |
28,816,536 (GRCm39) |
missense |
probably benign |
0.02 |
R9710:Spata31e5
|
UTSW |
1 |
28,817,120 (GRCm39) |
missense |
probably benign |
0.20 |
|
Predicted Primers |
PCR Primer
(F):5'- AATACTCCTGCACTGCTGGG -3'
(R):5'- GGAACTTGAAAACCTTCCCATGAAG -3'
Sequencing Primer
(F):5'- TTTTCCTGGGACCAGAAAGC -3'
(R):5'- TTCCCATGAAGAGAGACATGCTG -3'
|
Posted On |
2020-06-30 |