Incidental Mutation 'R0458:Spata13'
| ID |
41333 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
038658-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0458 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 60929492 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 350
(R350H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000159169]
[ENSMUST00000159729]
[ENSMUST00000160973]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000022566
AA Change: R350H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: R350H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
623 |
N/A |
INTRINSIC |
|
SH3
|
742 |
797 |
4.92e-16 |
SMART |
|
RhoGEF
|
836 |
1015 |
1.22e-58 |
SMART |
|
PH
|
1048 |
1155 |
1.16e-9 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159135
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159169
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000159729
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000160095
AA Change: R23H
PolyPhen 2
Score 0.944 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000123744
Gene: ENSMUSG00000021990
AA Change: R23H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
28 |
44 |
N/A |
INTRINSIC |
|
low complexity region
|
100 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
186 |
201 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000160973
AA Change: R350H
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: R350H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
370 |
N/A |
INTRINSIC |
|
low complexity region
|
426 |
450 |
N/A |
INTRINSIC |
|
low complexity region
|
453 |
462 |
N/A |
INTRINSIC |
|
low complexity region
|
540 |
557 |
N/A |
INTRINSIC |
|
low complexity region
|
571 |
584 |
N/A |
INTRINSIC |
|
low complexity region
|
604 |
623 |
N/A |
INTRINSIC |
|
SH3
|
742 |
797 |
4.92e-16 |
SMART |
|
RhoGEF
|
836 |
1015 |
1.22e-58 |
SMART |
|
PH
|
1048 |
1155 |
1.16e-9 |
SMART |
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 98.9%
- 10x: 97.0%
- 20x: 94.3%
|
| Validation Efficiency |
100% (79/79) |
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable, fertile and overtly normal but show a significant reduction in the number and size of intestinal adenomas in conjunction with ApcMin heterozygotes. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 76 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933407L21Rik |
A |
G |
1: 85,856,747 (GRCm39) |
E8G |
unknown |
Het |
| 9130008F23Rik |
T |
C |
17: 41,191,127 (GRCm39) |
T101A |
probably benign |
Het |
| Abcb8 |
C |
T |
5: 24,611,231 (GRCm39) |
T455I |
probably benign |
Het |
| Abcb9 |
C |
A |
5: 124,220,209 (GRCm39) |
|
probably null |
Het |
| Akp3 |
T |
G |
1: 87,054,259 (GRCm39) |
Y265* |
probably null |
Het |
| Atp6v1b1 |
A |
T |
6: 83,729,390 (GRCm39) |
D109V |
probably damaging |
Het |
| Aurka |
C |
A |
2: 172,212,366 (GRCm39) |
E4* |
probably null |
Het |
| Cacna1g |
T |
A |
11: 94,300,266 (GRCm39) |
Q2168L |
probably damaging |
Het |
| Cdc45 |
T |
A |
16: 18,600,722 (GRCm39) |
|
probably benign |
Het |
| Cfap61 |
T |
C |
2: 145,850,837 (GRCm39) |
V325A |
probably benign |
Het |
| Clasp2 |
T |
A |
9: 113,735,292 (GRCm39) |
|
probably null |
Het |
| Crim1 |
T |
A |
17: 78,620,655 (GRCm39) |
I365N |
probably damaging |
Het |
| Dcaf8 |
A |
G |
1: 172,001,610 (GRCm39) |
N269S |
probably benign |
Het |
| Dnaaf5 |
T |
C |
5: 139,147,633 (GRCm39) |
V399A |
possibly damaging |
Het |
| Ear2 |
A |
G |
14: 44,340,705 (GRCm39) |
Y121C |
probably damaging |
Het |
| Eef2k |
T |
C |
7: 120,502,513 (GRCm39) |
Y692H |
probably damaging |
Het |
| Elavl2 |
A |
T |
4: 91,197,104 (GRCm39) |
|
probably benign |
Het |
| Epn2 |
C |
A |
11: 61,437,281 (GRCm39) |
R97L |
possibly damaging |
Het |
| Fam243 |
T |
C |
16: 92,117,995 (GRCm39) |
I98V |
probably benign |
Het |
| Fzd6 |
G |
A |
15: 38,894,676 (GRCm39) |
A281T |
probably damaging |
Het |
| Garem2 |
T |
A |
5: 30,319,180 (GRCm39) |
I214N |
probably damaging |
Het |
| Glg1 |
A |
G |
8: 111,887,238 (GRCm39) |
|
probably benign |
Het |
| Golm1 |
T |
C |
13: 59,812,178 (GRCm39) |
E48G |
probably damaging |
Het |
| Gpaa1 |
G |
T |
15: 76,216,233 (GRCm39) |
R12L |
probably benign |
Het |
| Gstm1 |
T |
A |
3: 107,924,679 (GRCm39) |
T34S |
probably benign |
Het |
| Gtf3c1 |
G |
A |
7: 125,243,306 (GRCm39) |
P1766L |
possibly damaging |
Het |
| Herc1 |
A |
T |
9: 66,383,663 (GRCm39) |
Q3709L |
probably benign |
Het |
| Hoxa13 |
CCG |
CCGCG |
6: 52,237,618 (GRCm39) |
|
probably null |
Het |
| Icam1 |
A |
G |
9: 20,939,157 (GRCm39) |
|
probably null |
Het |
| Itga9 |
T |
C |
9: 118,510,096 (GRCm39) |
|
probably null |
Het |
| Kif15 |
T |
C |
9: 122,838,424 (GRCm39) |
F1121L |
probably benign |
Het |
| Klhl30 |
T |
A |
1: 91,288,718 (GRCm39) |
|
probably benign |
Het |
| Ldlrad1 |
T |
C |
4: 107,073,387 (GRCm39) |
C141R |
probably damaging |
Het |
| Lemd2 |
T |
C |
17: 27,409,627 (GRCm39) |
D508G |
probably damaging |
Het |
| Lilra5 |
A |
C |
7: 4,241,218 (GRCm39) |
T52P |
probably benign |
Het |
| Lrtm2 |
G |
A |
6: 119,294,229 (GRCm39) |
P301S |
probably damaging |
Het |
| Mcoln2 |
A |
G |
3: 145,855,768 (GRCm39) |
|
probably benign |
Het |
| Mkrn2os |
A |
G |
6: 115,563,631 (GRCm39) |
S135P |
probably damaging |
Het |
| Mlxipl |
T |
C |
5: 135,162,224 (GRCm39) |
V607A |
probably benign |
Het |
| Mmadhc |
T |
C |
2: 50,171,173 (GRCm39) |
Y213C |
probably benign |
Het |
| Mpo |
C |
A |
11: 87,687,123 (GRCm39) |
A223E |
probably benign |
Het |
| Mthfd2l |
C |
G |
5: 91,168,036 (GRCm39) |
I310M |
probably damaging |
Het |
| Muc5b |
C |
A |
7: 141,418,709 (GRCm39) |
A3885D |
probably benign |
Het |
| Mvp |
A |
G |
7: 126,597,663 (GRCm39) |
W152R |
probably damaging |
Het |
| Nmur2 |
A |
T |
11: 55,931,394 (GRCm39) |
F106I |
possibly damaging |
Het |
| Nr3c2 |
T |
A |
8: 77,636,167 (GRCm39) |
F423I |
probably damaging |
Het |
| Or1l8 |
A |
G |
2: 36,817,349 (GRCm39) |
V259A |
probably damaging |
Het |
| Or5m5 |
A |
G |
2: 85,814,600 (GRCm39) |
S139G |
probably benign |
Het |
| Or8c16 |
G |
A |
9: 38,130,344 (GRCm39) |
C75Y |
probably damaging |
Het |
| Or9q1 |
G |
T |
19: 13,805,593 (GRCm39) |
H56N |
probably benign |
Het |
| Pappa |
A |
G |
4: 65,074,119 (GRCm39) |
I224M |
probably damaging |
Het |
| Prex1 |
A |
C |
2: 166,427,743 (GRCm39) |
S800A |
probably damaging |
Het |
| Prkaca |
T |
C |
8: 84,721,911 (GRCm39) |
|
probably benign |
Het |
| Ptpru |
A |
T |
4: 131,526,986 (GRCm39) |
V662E |
possibly damaging |
Het |
| Rabep1 |
T |
A |
11: 70,777,824 (GRCm39) |
|
probably null |
Het |
| Rbms2 |
C |
T |
10: 127,987,058 (GRCm39) |
C50Y |
probably damaging |
Het |
| Rd3 |
C |
T |
1: 191,709,414 (GRCm39) |
P25S |
probably damaging |
Het |
| Rnf148 |
T |
G |
6: 23,654,256 (GRCm39) |
I247L |
probably benign |
Het |
| Sf3b3 |
A |
G |
8: 111,538,768 (GRCm39) |
|
probably benign |
Het |
| Slc35c1 |
A |
T |
2: 92,284,858 (GRCm39) |
F252Y |
probably damaging |
Het |
| Slc38a11 |
T |
C |
2: 65,193,813 (GRCm39) |
|
probably null |
Het |
| Snx6 |
G |
T |
12: 54,814,921 (GRCm39) |
Y17* |
probably null |
Het |
| Sox6 |
C |
A |
7: 115,089,029 (GRCm39) |
R611L |
probably damaging |
Het |
| Sppl2a |
G |
T |
2: 126,746,879 (GRCm39) |
A483D |
probably damaging |
Het |
| Stat1 |
C |
T |
1: 52,188,211 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
T |
10: 7,795,319 (GRCm39) |
Y314N |
probably damaging |
Het |
| Tor1aip1 |
T |
C |
1: 155,906,153 (GRCm39) |
N213S |
probably damaging |
Het |
| Trim39 |
T |
C |
17: 36,572,404 (GRCm39) |
K300E |
probably damaging |
Het |
| Tubal3 |
T |
C |
13: 3,983,137 (GRCm39) |
S306P |
probably damaging |
Het |
| Ufm1 |
A |
G |
3: 53,768,655 (GRCm39) |
L33P |
probably damaging |
Het |
| Washc4 |
G |
A |
10: 83,382,663 (GRCm39) |
V26I |
possibly damaging |
Het |
| Wfs1 |
A |
G |
5: 37,126,013 (GRCm39) |
Y293H |
probably damaging |
Het |
| Zbtb41 |
T |
C |
1: 139,351,214 (GRCm39) |
V109A |
probably damaging |
Het |
| Zfp667 |
T |
C |
7: 6,307,844 (GRCm39) |
S171P |
probably benign |
Het |
| Zkscan5 |
T |
A |
5: 145,142,281 (GRCm39) |
H59Q |
probably damaging |
Het |
| Zswim8 |
C |
T |
14: 20,768,965 (GRCm39) |
R1128W |
probably damaging |
Het |
|
| Other mutations in Spata13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02364:Spata13
|
APN |
14 |
60,928,723 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02455:Spata13
|
APN |
14 |
60,944,163 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03189:Spata13
|
APN |
14 |
60,929,063 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
IGL03235:Spata13
|
APN |
14 |
60,989,241 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4378001:Spata13
|
UTSW |
14 |
60,987,445 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0278:Spata13
|
UTSW |
14 |
60,929,537 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0316:Spata13
|
UTSW |
14 |
60,929,788 (GRCm39) |
missense |
probably benign |
|
|
R1546:Spata13
|
UTSW |
14 |
60,993,857 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1780:Spata13
|
UTSW |
14 |
60,929,174 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1791:Spata13
|
UTSW |
14 |
60,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1970:Spata13
|
UTSW |
14 |
60,928,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2059:Spata13
|
UTSW |
14 |
60,997,040 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R2063:Spata13
|
UTSW |
14 |
60,998,320 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2068:Spata13
|
UTSW |
14 |
60,998,320 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2212:Spata13
|
UTSW |
14 |
60,944,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R2327:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R3414:Spata13
|
UTSW |
14 |
60,944,172 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4115:Spata13
|
UTSW |
14 |
60,929,927 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4276:Spata13
|
UTSW |
14 |
60,993,745 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4289:Spata13
|
UTSW |
14 |
60,928,523 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4291:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4293:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4294:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4295:Spata13
|
UTSW |
14 |
60,947,004 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R4779:Spata13
|
UTSW |
14 |
60,991,356 (GRCm39) |
nonsense |
probably null |
|
|
R4780:Spata13
|
UTSW |
14 |
60,991,356 (GRCm39) |
nonsense |
probably null |
|
|
R4838:Spata13
|
UTSW |
14 |
60,970,628 (GRCm39) |
missense |
probably benign |
0.17 |
|
R4997:Spata13
|
UTSW |
14 |
60,946,908 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5066:Spata13
|
UTSW |
14 |
60,987,538 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5399:Spata13
|
UTSW |
14 |
60,984,990 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5685:Spata13
|
UTSW |
14 |
60,928,652 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5708:Spata13
|
UTSW |
14 |
60,929,452 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5747:Spata13
|
UTSW |
14 |
60,984,952 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6073:Spata13
|
UTSW |
14 |
60,987,470 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6135:Spata13
|
UTSW |
14 |
60,993,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R6233:Spata13
|
UTSW |
14 |
60,929,456 (GRCm39) |
missense |
probably benign |
0.06 |
|
R6782:Spata13
|
UTSW |
14 |
60,928,912 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6873:Spata13
|
UTSW |
14 |
60,929,406 (GRCm39) |
missense |
probably benign |
|
|
R6958:Spata13
|
UTSW |
14 |
60,989,300 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7105:Spata13
|
UTSW |
14 |
60,991,319 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7286:Spata13
|
UTSW |
14 |
60,993,871 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7512:Spata13
|
UTSW |
14 |
60,989,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7565:Spata13
|
UTSW |
14 |
60,989,298 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7608:Spata13
|
UTSW |
14 |
60,929,956 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R7743:Spata13
|
UTSW |
14 |
60,993,698 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7795:Spata13
|
UTSW |
14 |
60,929,291 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7959:Spata13
|
UTSW |
14 |
60,993,679 (GRCm39) |
nonsense |
probably null |
|
|
R8073:Spata13
|
UTSW |
14 |
60,928,705 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8304:Spata13
|
UTSW |
14 |
60,993,957 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R8791:Spata13
|
UTSW |
14 |
60,929,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8889:Spata13
|
UTSW |
14 |
60,994,030 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8893:Spata13
|
UTSW |
14 |
60,987,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8987:Spata13
|
UTSW |
14 |
60,993,896 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R9513:Spata13
|
UTSW |
14 |
60,929,849 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9548:Spata13
|
UTSW |
14 |
60,991,303 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9624:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9625:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9626:Spata13
|
UTSW |
14 |
60,944,349 (GRCm39) |
missense |
probably benign |
0.17 |
|
R9686:Spata13
|
UTSW |
14 |
60,989,108 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:Spata13
|
UTSW |
14 |
60,928,498 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9747:Spata13
|
UTSW |
14 |
60,929,240 (GRCm39) |
missense |
probably benign |
|
|
R9774:Spata13
|
UTSW |
14 |
60,944,196 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGAGCAATGTCAAGGATGCGGC -3'
(R):5'- TGAGGGACAGCACACTCAGACTAC -3'
Sequencing Primer
(F):5'- TCAAGGATGCGGCTTGGAAG -3'
(R):5'- AGACTACTGGGGCACTTAGTACTC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation