Incidental Mutation 'R4415:Spata31e5'
| ID |
326777 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31e5
|
| Ensembl Gene |
ENSMUSG00000048411 |
| Gene Name |
spermatogenesis associated 31 subfamily E member 5 |
| Synonyms |
Gm597, LOC210962 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.059)
|
| Stock # |
R4415 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
1 |
| Chromosomal Location |
28815203-28819333 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 28816214 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Leucine
at position 606
(Q606L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000058140
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000059937]
|
| AlphaFold |
E9Q8J5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000059937
AA Change: Q606L
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000058140
Gene: ENSMUSG00000048411
AA Change: Q606L
| 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: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ace3 |
A |
T |
11: 105,895,947 (GRCm39) |
D631V |
probably benign |
Het |
| Adam17 |
T |
C |
12: 21,395,702 (GRCm39) |
I274V |
possibly damaging |
Het |
| Aebp1 |
A |
G |
11: 5,815,451 (GRCm39) |
D303G |
probably damaging |
Het |
| B020004C17Rik |
T |
C |
14: 57,254,874 (GRCm39) |
*233R |
probably null |
Het |
| Bcl9l |
C |
T |
9: 44,413,176 (GRCm39) |
P127S |
possibly damaging |
Het |
| Bdp1 |
T |
C |
13: 100,167,369 (GRCm39) |
D2215G |
probably damaging |
Het |
| Caly |
T |
C |
7: 139,652,593 (GRCm39) |
T52A |
probably damaging |
Het |
| Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
| Cdc23 |
ACC |
AC |
18: 34,770,371 (GRCm39) |
|
probably null |
Het |
| Colq |
T |
C |
14: 31,257,645 (GRCm39) |
K231E |
probably damaging |
Het |
| Fam32a |
T |
A |
8: 72,975,785 (GRCm39) |
I77N |
probably damaging |
Het |
| Impdh1 |
C |
T |
6: 29,209,221 (GRCm39) |
V49M |
probably damaging |
Het |
| Kcnh7 |
A |
G |
2: 62,536,417 (GRCm39) |
I1055T |
probably damaging |
Het |
| Lad1 |
A |
G |
1: 135,756,484 (GRCm39) |
D364G |
probably benign |
Het |
| Lama2 |
G |
T |
10: 26,865,340 (GRCm39) |
Y947* |
probably null |
Het |
| Myo5b |
T |
A |
18: 74,713,479 (GRCm39) |
I108N |
probably damaging |
Het |
| Nvl |
T |
C |
1: 180,932,679 (GRCm39) |
T713A |
probably benign |
Het |
| Oit3 |
T |
C |
10: 59,263,925 (GRCm39) |
Y403C |
probably damaging |
Het |
| Or6c70 |
T |
C |
10: 129,709,826 (GRCm39) |
T267A |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,223,532 (GRCm39) |
T1236A |
probably benign |
Het |
| Pip4p2 |
C |
T |
4: 14,912,463 (GRCm39) |
R191C |
probably damaging |
Het |
| Rcl1 |
G |
A |
19: 29,095,762 (GRCm39) |
V116I |
probably benign |
Het |
| Rdh14 |
G |
A |
12: 10,441,231 (GRCm39) |
|
probably null |
Het |
| Rfx2 |
T |
A |
17: 57,094,733 (GRCm39) |
T204S |
possibly damaging |
Het |
| Rin2 |
C |
T |
2: 145,702,366 (GRCm39) |
T354I |
probably benign |
Het |
| Ripor1 |
T |
C |
8: 106,344,608 (GRCm39) |
S581P |
probably benign |
Het |
| Rnf213 |
T |
A |
11: 119,374,790 (GRCm39) |
V5084E |
probably damaging |
Het |
| Scn9a |
A |
T |
2: 66,357,037 (GRCm39) |
V1077E |
probably damaging |
Het |
| Slc15a5 |
A |
G |
6: 138,056,754 (GRCm39) |
V54A |
probably benign |
Het |
| Slc35b2 |
G |
A |
17: 45,877,355 (GRCm39) |
V161M |
probably benign |
Het |
| Snx19 |
T |
A |
9: 30,348,779 (GRCm39) |
L804Q |
probably damaging |
Het |
| Specc1l |
C |
A |
10: 75,082,162 (GRCm39) |
N519K |
possibly damaging |
Het |
| Spmip6 |
T |
C |
4: 41,505,574 (GRCm39) |
T183A |
possibly damaging |
Het |
| Stambp |
A |
T |
6: 83,534,464 (GRCm39) |
N274K |
probably damaging |
Het |
| Stox1 |
T |
C |
10: 62,495,348 (GRCm39) |
N975S |
probably benign |
Het |
| Tacc3 |
T |
G |
5: 33,824,028 (GRCm39) |
|
probably null |
Het |
| Tubb1 |
G |
A |
2: 174,299,466 (GRCm39) |
E383K |
probably benign |
Het |
| Ube3b |
A |
T |
5: 114,550,505 (GRCm39) |
D844V |
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 |
|
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 |
|
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'- CTGAGCCAGAGCATTAATGAGG -3'
(R):5'- GCCAAATGCTTTCTGGTCC -3'
Sequencing Primer
(F):5'- CCAGAGCATTAATGAGGGCTTG -3'
(R):5'- TTTCTGGTCCCAGGAAAAACC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation