Incidental Mutation 'R1302:Spata31e5'
ID |
158397 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31e5
|
Ensembl Gene |
ENSMUSG00000048411 |
Gene Name |
spermatogenesis associated 31 subfamily E member 5 |
Synonyms |
Gm597, LOC210962 |
MMRRC Submission |
039368-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.066)
|
Stock # |
R1302 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 28815421 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 870
(D870E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
AlphaFold |
E9Q8J5 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: D870E
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
SMART Domains |
Protein: ENSMUSP00000058140 Gene: ENSMUSG00000048411 AA Change: D870E
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: 98.8%
- 3x: 97.7%
- 10x: 94.3%
- 20x: 86.2%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 59 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810004N23Rik |
A |
T |
8: 125,566,607 (GRCm39) |
I271N |
probably damaging |
Het |
5031439G07Rik |
A |
G |
15: 84,837,477 (GRCm39) |
Y279H |
probably damaging |
Het |
Abcg2 |
T |
A |
6: 58,662,802 (GRCm39) |
M548K |
probably damaging |
Het |
Acat1 |
T |
C |
9: 53,500,525 (GRCm39) |
D257G |
possibly damaging |
Het |
Adamts4 |
G |
A |
1: 171,080,752 (GRCm39) |
G360R |
probably damaging |
Het |
Akr1c12 |
T |
C |
13: 4,322,328 (GRCm39) |
D238G |
probably damaging |
Het |
Ankrd1 |
C |
T |
19: 36,092,403 (GRCm39) |
G275S |
probably damaging |
Het |
Ascc3 |
T |
A |
10: 50,480,890 (GRCm39) |
M1K |
probably null |
Het |
Atf7ip2 |
T |
C |
16: 10,058,472 (GRCm39) |
S304P |
possibly damaging |
Het |
Casp4 |
T |
A |
9: 5,328,518 (GRCm39) |
C333* |
probably null |
Het |
Ccdc68 |
G |
A |
18: 70,072,033 (GRCm39) |
V37M |
probably damaging |
Het |
Cda |
T |
A |
4: 138,078,502 (GRCm39) |
I87F |
probably damaging |
Het |
Chst1 |
A |
T |
2: 92,443,864 (GRCm39) |
D112V |
probably damaging |
Het |
Chtf18 |
T |
C |
17: 25,938,132 (GRCm39) |
D967G |
probably damaging |
Het |
Col5a1 |
A |
G |
2: 27,895,248 (GRCm39) |
R1106G |
probably damaging |
Het |
Coro1b |
T |
G |
19: 4,199,376 (GRCm39) |
F12V |
probably damaging |
Het |
Ctif |
G |
T |
18: 75,654,749 (GRCm39) |
P259Q |
probably benign |
Het |
Duox1 |
A |
T |
2: 122,177,760 (GRCm39) |
I1515F |
probably benign |
Het |
Eme2 |
G |
A |
17: 25,111,892 (GRCm39) |
S263F |
probably damaging |
Het |
Flt1 |
A |
G |
5: 147,501,050 (GRCm39) |
Y1328H |
possibly damaging |
Het |
Frem2 |
T |
C |
3: 53,562,959 (GRCm39) |
D516G |
probably benign |
Het |
Gin1 |
A |
T |
1: 97,703,314 (GRCm39) |
K46* |
probably null |
Het |
Gle1 |
C |
G |
2: 29,842,564 (GRCm39) |
|
probably null |
Het |
Gm11146 |
T |
G |
16: 77,398,970 (GRCm39) |
I5L |
unknown |
Het |
Gpr153 |
C |
T |
4: 152,364,400 (GRCm39) |
T152M |
probably damaging |
Het |
H1f8 |
A |
T |
6: 115,924,610 (GRCm39) |
R39* |
probably null |
Het |
Hdlbp |
A |
T |
1: 93,351,107 (GRCm39) |
|
probably null |
Het |
Ifi207 |
A |
T |
1: 173,562,861 (GRCm39) |
L95Q |
possibly damaging |
Het |
Ikzf3 |
G |
T |
11: 98,407,746 (GRCm39) |
P32T |
probably benign |
Het |
Ints10 |
T |
A |
8: 69,279,964 (GRCm39) |
V697E |
probably damaging |
Het |
Krt14 |
A |
G |
11: 100,094,173 (GRCm39) |
S474P |
probably damaging |
Het |
L3mbtl3 |
T |
A |
10: 26,203,667 (GRCm39) |
I388F |
unknown |
Het |
Ldha |
A |
C |
7: 46,497,063 (GRCm39) |
Q7P |
probably damaging |
Het |
Lrwd1 |
A |
G |
5: 136,161,267 (GRCm39) |
S232P |
probably benign |
Het |
Med1 |
G |
T |
11: 98,048,275 (GRCm39) |
D840E |
possibly damaging |
Het |
Med23 |
T |
A |
10: 24,764,320 (GRCm39) |
|
probably null |
Het |
Naip5 |
G |
A |
13: 100,358,099 (GRCm39) |
P1046S |
possibly damaging |
Het |
Ndufa4l2 |
A |
T |
10: 127,351,301 (GRCm39) |
M31L |
probably benign |
Het |
Nlrp4f |
A |
G |
13: 65,342,371 (GRCm39) |
S425P |
possibly damaging |
Het |
Nova1 |
A |
T |
12: 46,767,581 (GRCm39) |
H113Q |
unknown |
Het |
Npc1 |
T |
C |
18: 12,328,142 (GRCm39) |
K1056E |
probably benign |
Het |
Nrbp1 |
A |
G |
5: 31,407,233 (GRCm39) |
H354R |
probably benign |
Het |
Ogfod3 |
A |
G |
11: 121,074,300 (GRCm39) |
F250L |
probably damaging |
Het |
Pclo |
A |
G |
5: 14,731,647 (GRCm39) |
D3383G |
unknown |
Het |
Pde1b |
T |
A |
15: 103,436,026 (GRCm39) |
D457E |
probably benign |
Het |
Pkd1 |
C |
G |
17: 24,787,210 (GRCm39) |
S581R |
probably benign |
Het |
Pno1 |
T |
A |
11: 17,154,545 (GRCm39) |
Q212L |
probably benign |
Het |
Polr3b |
C |
T |
10: 84,468,350 (GRCm39) |
P112L |
probably damaging |
Het |
Pomk |
T |
A |
8: 26,473,102 (GRCm39) |
I284F |
probably damaging |
Het |
Rapgef4 |
A |
T |
2: 71,875,504 (GRCm39) |
D119V |
probably benign |
Het |
Rprm |
A |
T |
2: 53,975,165 (GRCm39) |
L51Q |
probably benign |
Het |
Taok3 |
A |
C |
5: 117,337,108 (GRCm39) |
S58R |
possibly damaging |
Het |
Tmprss9 |
T |
A |
10: 80,730,963 (GRCm39) |
S830T |
probably benign |
Het |
Tnfrsf1a |
G |
A |
6: 125,333,879 (GRCm39) |
C44Y |
probably damaging |
Het |
Ubr5 |
A |
T |
15: 38,041,723 (GRCm39) |
D235E |
possibly damaging |
Het |
Vapb |
C |
A |
2: 173,613,330 (GRCm39) |
F76L |
possibly damaging |
Het |
Vmn2r72 |
T |
C |
7: 85,387,465 (GRCm39) |
I700V |
probably damaging |
Het |
Wwc1 |
G |
A |
11: 35,734,984 (GRCm39) |
R964W |
probably damaging |
Het |
Zfp644 |
A |
T |
5: 106,782,765 (GRCm39) |
V1203D |
probably damaging |
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 |
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 |
R8082:Spata31e5
|
UTSW |
1 |
28,816,579 (GRCm39) |
missense |
probably benign |
0.08 |
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'- AGACCAAATCCTACCCTGCATAGTCTT -3'
(R):5'- ACTCTCCACATGGAAGCCCCAAG -3'
Sequencing Primer
(F):5'- catgaagagagcagatataagcaag -3'
(R):5'- GTGGCACAAGCACTCATTCAG -3'
|
Posted On |
2014-02-18 |