Incidental Mutation 'R7512:Spata13'
ID |
582176 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata13
|
Ensembl Gene |
ENSMUSG00000021990 |
Gene Name |
spermatogenesis associated 13 |
Synonyms |
ESTM11 |
MMRRC Submission |
045585-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R7512 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 60989226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Leucine to Proline
at position 964
(L964P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000160973]
[ENSMUST00000162945]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000022566
AA Change: L964P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000022566 Gene: ENSMUSG00000021990 AA Change: L964P
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 |
probably damaging
Transcript: ENSMUST00000160973
AA Change: L964P
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000123928 Gene: ENSMUSG00000021990 AA Change: L964P
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 |
probably benign
Transcript: ENSMUST00000162131
|
SMART Domains |
Protein: ENSMUSP00000124586 Gene: ENSMUSG00000021990
Domain | Start | End | E-Value | Type |
low complexity region
|
16 |
33 |
N/A |
INTRINSIC |
low complexity region
|
47 |
60 |
N/A |
INTRINSIC |
low complexity region
|
80 |
99 |
N/A |
INTRINSIC |
SH3
|
208 |
263 |
4.92e-16 |
SMART |
Blast:RhoGEF
|
302 |
340 |
7e-19 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000162945
AA Change: L294P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000123888 Gene: ENSMUSG00000021990 AA Change: L294P
Domain | Start | End | E-Value | Type |
SH3
|
72 |
127 |
4.92e-16 |
SMART |
RhoGEF
|
166 |
345 |
1.22e-58 |
SMART |
PH
|
378 |
485 |
1.16e-9 |
SMART |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
Validation Efficiency |
100% (59/59) |
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 |
Abca8b |
C |
T |
11: 109,829,275 (GRCm39) |
A1395T |
probably benign |
Het |
Ank3 |
A |
G |
10: 69,826,691 (GRCm39) |
K1787E |
|
Het |
Atg2a |
C |
T |
19: 6,310,106 (GRCm39) |
A1763V |
probably damaging |
Het |
Bdp1 |
T |
C |
13: 100,187,457 (GRCm39) |
I1637V |
probably benign |
Het |
C1ra |
G |
A |
6: 124,494,684 (GRCm39) |
E316K |
probably benign |
Het |
Camsap3 |
A |
G |
8: 3,648,740 (GRCm39) |
T20A |
probably benign |
Het |
Ccnt2 |
T |
A |
1: 127,730,031 (GRCm39) |
S303T |
possibly damaging |
Het |
Cdh3 |
C |
T |
8: 107,265,640 (GRCm39) |
Q228* |
probably null |
Het |
Col19a1 |
C |
T |
1: 24,356,788 (GRCm39) |
G632R |
probably damaging |
Het |
Dock2 |
A |
C |
11: 34,262,542 (GRCm39) |
C938G |
possibly damaging |
Het |
Dync1i1 |
G |
T |
6: 5,969,410 (GRCm39) |
V412L |
possibly damaging |
Het |
Eif1ad6 |
G |
T |
12: 87,668,751 (GRCm39) |
E128* |
probably null |
Het |
Entrep2 |
C |
T |
7: 64,805,918 (GRCm39) |
A52T |
probably benign |
Het |
Fam185a |
G |
A |
5: 21,652,356 (GRCm39) |
|
probably null |
Het |
Fcho1 |
A |
G |
8: 72,169,507 (GRCm39) |
L133P |
possibly damaging |
Het |
Galnt12 |
G |
A |
4: 47,108,406 (GRCm39) |
R181H |
possibly damaging |
Het |
Gen1 |
A |
G |
12: 11,310,977 (GRCm39) |
V85A |
possibly damaging |
Het |
Gm12185 |
A |
T |
11: 48,806,717 (GRCm39) |
I158K |
probably benign |
Het |
Gm5624 |
T |
C |
14: 44,799,312 (GRCm39) |
R82G |
|
Het |
Grap2 |
A |
C |
15: 80,532,754 (GRCm39) |
N307T |
probably benign |
Het |
H6pd |
A |
G |
4: 150,080,405 (GRCm39) |
F147L |
probably benign |
Het |
Haspin |
A |
T |
11: 73,027,418 (GRCm39) |
I557N |
probably damaging |
Het |
Hectd4 |
A |
T |
5: 121,435,172 (GRCm39) |
K961N |
possibly damaging |
Het |
Helz2 |
A |
G |
2: 180,872,647 (GRCm39) |
M2495T |
probably benign |
Het |
Helz2 |
A |
T |
2: 180,877,393 (GRCm39) |
|
probably null |
Het |
Impdh1 |
T |
C |
6: 29,207,168 (GRCm39) |
I59V |
probably benign |
Het |
Kcnn1 |
A |
T |
8: 71,307,293 (GRCm39) |
L200Q |
possibly damaging |
Het |
Kif5c |
T |
A |
2: 49,590,977 (GRCm39) |
H276Q |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,929,001 (GRCm39) |
L1259P |
probably damaging |
Het |
Krtap4-1 |
A |
T |
11: 99,518,859 (GRCm39) |
C50* |
probably null |
Het |
Lat2 |
T |
A |
5: 134,634,798 (GRCm39) |
D114V |
probably damaging |
Het |
Lrrc41 |
A |
G |
4: 115,950,191 (GRCm39) |
T535A |
possibly damaging |
Het |
Ly75 |
A |
T |
2: 60,164,907 (GRCm39) |
V757D |
probably damaging |
Het |
Masp1 |
C |
A |
16: 23,288,874 (GRCm39) |
R642L |
probably damaging |
Het |
Morn3 |
A |
G |
5: 123,175,343 (GRCm39) |
|
probably null |
Het |
Mpl |
A |
T |
4: 118,306,089 (GRCm39) |
I384N |
|
Het |
Mtmr14 |
C |
T |
6: 113,245,652 (GRCm39) |
Q409* |
probably null |
Het |
Nek1 |
T |
A |
8: 61,583,179 (GRCm39) |
D1272E |
probably benign |
Het |
Oit3 |
T |
C |
10: 59,274,716 (GRCm39) |
Y28C |
probably damaging |
Het |
Or2z8 |
T |
A |
8: 72,812,367 (GRCm39) |
I281N |
probably damaging |
Het |
Or4x12-ps1 |
A |
G |
2: 89,916,040 (GRCm39) |
I255T |
possibly damaging |
Het |
Or5ac22 |
T |
A |
16: 59,135,390 (GRCm39) |
N127Y |
probably damaging |
Het |
Pcdh15 |
T |
C |
10: 74,477,214 (GRCm39) |
Y186H |
possibly damaging |
Het |
Pcdhgb1 |
T |
A |
18: 37,815,418 (GRCm39) |
D636E |
probably damaging |
Het |
Pdgfra |
A |
T |
5: 75,355,675 (GRCm39) |
R1062* |
probably null |
Het |
Pds5b |
T |
C |
5: 150,711,807 (GRCm39) |
F922L |
probably damaging |
Het |
Pip5k1c |
G |
A |
10: 81,150,953 (GRCm39) |
|
probably null |
Het |
Ppp2r3d |
T |
C |
9: 101,052,532 (GRCm39) |
T226A |
possibly damaging |
Het |
Ptprh |
G |
A |
7: 4,574,780 (GRCm39) |
T413I |
possibly damaging |
Het |
Rora |
C |
A |
9: 69,281,367 (GRCm39) |
D382E |
probably benign |
Het |
Sacs |
T |
A |
14: 61,441,879 (GRCm39) |
N1308K |
probably benign |
Het |
Sgce |
C |
T |
6: 4,707,192 (GRCm39) |
D218N |
possibly damaging |
Het |
Slc34a3 |
A |
T |
2: 25,122,253 (GRCm39) |
|
probably null |
Het |
Slit1 |
T |
C |
19: 41,589,074 (GRCm39) |
Y1471C |
probably damaging |
Het |
Smarca2 |
G |
T |
19: 26,661,209 (GRCm39) |
V935L |
possibly damaging |
Het |
Smchd1 |
T |
C |
17: 71,688,364 (GRCm39) |
N1298S |
possibly damaging |
Het |
Sort1 |
T |
A |
3: 108,233,323 (GRCm39) |
|
probably null |
Het |
Spata31h1 |
G |
A |
10: 82,128,469 (GRCm39) |
L1514F |
probably benign |
Het |
Trav7-6 |
C |
A |
14: 53,954,552 (GRCm39) |
D47E |
probably benign |
Het |
Ubap2l |
A |
G |
3: 89,917,803 (GRCm39) |
F864L |
unknown |
Het |
Vmn2r102 |
C |
T |
17: 19,914,363 (GRCm39) |
P643S |
probably damaging |
Het |
Zfp112 |
T |
A |
7: 23,824,604 (GRCm39) |
C195S |
possibly damaging |
Het |
Zfp764l1 |
C |
T |
7: 126,992,496 (GRCm39) |
C38Y |
probably null |
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 |
|
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 |
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'- GACTGATGAGGTTGCCTTCC -3'
(R):5'- TGCTGCCACATTACCATCAC -3'
Sequencing Primer
(F):5'- TTCCCCCTTCCAGCAAGAGG -3'
(R):5'- CCCTCACCAGCATCAGC -3'
|
Posted On |
2019-10-17 |