Incidental Mutation 'R0278:Spata13'
| ID |
24492 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata13
|
| Ensembl Gene |
ENSMUSG00000021990 |
| Gene Name |
spermatogenesis associated 13 |
| Synonyms |
ESTM11 |
| MMRRC Submission |
038500-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0278 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
14 |
| Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 60929537 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 365
(Y365C)
|
| 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 benign
Transcript: ENSMUST00000022566
AA Change: Y365C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000022566
Gene: ENSMUSG00000021990
AA Change: Y365C
| 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 |
unknown
Transcript: ENSMUST00000160095
AA Change: Y38C
|
| SMART Domains |
Protein: ENSMUSP00000123744
Gene: ENSMUSG00000021990
AA Change: Y38C
| 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 benign
Transcript: ENSMUST00000160973
AA Change: Y365C
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000123928
Gene: ENSMUSG00000021990
AA Change: Y365C
| 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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.8%
- 10x: 95.4%
- 20x: 90.7%
|
| Validation Efficiency |
|
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
T |
A |
11: 9,328,215 (GRCm39) |
S3429R |
probably damaging |
Het |
| Abca3 |
A |
G |
17: 24,600,894 (GRCm39) |
D436G |
probably benign |
Het |
| Acacb |
C |
A |
5: 114,371,320 (GRCm39) |
Y1816* |
probably null |
Het |
| Acer3 |
T |
C |
7: 97,910,804 (GRCm39) |
Y86C |
probably damaging |
Het |
| Adgre1 |
A |
G |
17: 57,754,872 (GRCm39) |
I657V |
probably benign |
Het |
| Akap1 |
A |
G |
11: 88,736,020 (GRCm39) |
V214A |
probably benign |
Het |
| Ankrd42 |
T |
C |
7: 92,280,865 (GRCm39) |
R22G |
possibly damaging |
Het |
| Apc2 |
C |
T |
10: 80,148,647 (GRCm39) |
P1234S |
possibly damaging |
Het |
| Atp13a4 |
A |
G |
16: 29,273,652 (GRCm39) |
I441T |
probably damaging |
Het |
| Cenpu |
G |
A |
8: 47,031,344 (GRCm39) |
A242T |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,644,487 (GRCm39) |
V1267E |
possibly damaging |
Het |
| Crhr2 |
T |
C |
6: 55,094,516 (GRCm39) |
T58A |
probably benign |
Het |
| Ddx6 |
T |
G |
9: 44,542,722 (GRCm39) |
C385G |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,543,305 (GRCm39) |
N2288K |
probably benign |
Het |
| Egfl8 |
A |
T |
17: 34,833,342 (GRCm39) |
|
probably null |
Het |
| Elmo2 |
A |
T |
2: 165,139,287 (GRCm39) |
I420N |
probably damaging |
Het |
| Elovl4 |
A |
G |
9: 83,665,248 (GRCm39) |
F113L |
probably benign |
Het |
| Fancd2 |
T |
A |
6: 113,525,409 (GRCm39) |
|
probably null |
Het |
| Fbxl13 |
A |
G |
5: 21,728,908 (GRCm39) |
V456A |
probably benign |
Het |
| Fgfr2 |
A |
T |
7: 129,863,592 (GRCm39) |
|
probably null |
Het |
| Fkbpl |
A |
T |
17: 34,864,384 (GRCm39) |
R51* |
probably null |
Het |
| Fn3krp |
G |
A |
11: 121,312,406 (GRCm39) |
V40M |
probably damaging |
Het |
| Fnip1 |
A |
G |
11: 54,380,169 (GRCm39) |
|
probably null |
Het |
| Gm15446 |
A |
T |
5: 110,091,281 (GRCm39) |
Q511L |
probably benign |
Het |
| Gm7334 |
A |
G |
17: 51,006,289 (GRCm39) |
K192E |
probably damaging |
Het |
| H2-Q10 |
A |
T |
17: 35,784,204 (GRCm39) |
T282S |
possibly damaging |
Het |
| Hspa9 |
A |
G |
18: 35,073,963 (GRCm39) |
V482A |
possibly damaging |
Het |
| Ica1l |
A |
T |
1: 60,053,155 (GRCm39) |
S128T |
probably benign |
Het |
| Il7r |
A |
T |
15: 9,516,423 (GRCm39) |
I126K |
probably damaging |
Het |
| Kcnj8 |
T |
C |
6: 142,516,074 (GRCm39) |
E11G |
probably benign |
Het |
| Klkb1 |
A |
C |
8: 45,725,446 (GRCm39) |
F498V |
probably benign |
Het |
| Lama1 |
A |
G |
17: 68,117,178 (GRCm39) |
E2491G |
probably null |
Het |
| Lhfpl2 |
T |
C |
13: 94,310,943 (GRCm39) |
V71A |
probably benign |
Het |
| Lin9 |
T |
C |
1: 180,493,488 (GRCm39) |
I198T |
probably damaging |
Het |
| Lrrc7 |
T |
A |
3: 157,885,432 (GRCm39) |
M431L |
possibly damaging |
Het |
| Nmt2 |
A |
G |
2: 3,326,424 (GRCm39) |
T519A |
probably benign |
Het |
| Or10w1 |
C |
A |
19: 13,632,128 (GRCm39) |
L112I |
probably damaging |
Het |
| Or10w1 |
T |
A |
19: 13,632,129 (GRCm39) |
L112H |
probably damaging |
Het |
| Or1d2 |
T |
C |
11: 74,256,028 (GRCm39) |
F178L |
probably damaging |
Het |
| Or4a74 |
G |
T |
2: 89,440,108 (GRCm39) |
L113M |
probably damaging |
Het |
| Or4a74 |
A |
T |
2: 89,440,107 (GRCm39) |
L113Q |
probably damaging |
Het |
| Or5al7 |
A |
T |
2: 85,992,923 (GRCm39) |
Y123* |
probably null |
Het |
| Or7h8 |
G |
T |
9: 20,124,182 (GRCm39) |
C179F |
probably damaging |
Het |
| Parp4 |
A |
G |
14: 56,844,980 (GRCm39) |
R624G |
probably damaging |
Het |
| Pex16 |
C |
T |
2: 92,211,401 (GRCm39) |
P325S |
probably damaging |
Het |
| Pik3ca |
T |
C |
3: 32,493,902 (GRCm39) |
M288T |
possibly damaging |
Het |
| Pla2g5 |
C |
T |
4: 138,527,967 (GRCm39) |
D100N |
probably benign |
Het |
| Prss43 |
T |
A |
9: 110,656,430 (GRCm39) |
M39K |
probably benign |
Het |
| Psd4 |
T |
C |
2: 24,284,450 (GRCm39) |
S105P |
probably damaging |
Het |
| Ptprz1 |
T |
A |
6: 23,000,816 (GRCm39) |
S969T |
probably benign |
Het |
| Rad23b |
T |
A |
4: 55,383,575 (GRCm39) |
|
probably null |
Het |
| Rif1 |
GCCACCA |
GCCA |
2: 52,000,336 (GRCm39) |
|
probably benign |
Het |
| Rpl10l |
A |
G |
12: 66,331,130 (GRCm39) |
M1T |
probably null |
Het |
| Sec16a |
A |
G |
2: 26,318,328 (GRCm39) |
S1588P |
probably damaging |
Het |
| Sh3rf1 |
A |
T |
8: 61,827,052 (GRCm39) |
H602L |
probably damaging |
Het |
| Sparcl1 |
A |
T |
5: 104,236,263 (GRCm39) |
S497T |
probably benign |
Het |
| Trim5 |
T |
C |
7: 103,928,882 (GRCm39) |
N20D |
probably benign |
Het |
| Vmn1r201 |
G |
T |
13: 22,659,194 (GRCm39) |
W136L |
probably damaging |
Het |
| Vmn2r112 |
A |
G |
17: 22,821,987 (GRCm39) |
I222V |
probably benign |
Het |
| Vmn2r56 |
A |
T |
7: 12,449,644 (GRCm39) |
V198D |
probably damaging |
Het |
| Wapl |
A |
G |
14: 34,414,569 (GRCm39) |
D477G |
possibly damaging |
Het |
| Zfp202 |
C |
A |
9: 40,119,778 (GRCm39) |
H194N |
probably benign |
Het |
| Zfp212 |
C |
T |
6: 47,903,453 (GRCm39) |
R13W |
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 |
|
R0316:Spata13
|
UTSW |
14 |
60,929,788 (GRCm39) |
missense |
probably benign |
|
|
R0458:Spata13
|
UTSW |
14 |
60,929,492 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2013-04-16 |
Incidental Mutation