Incidental Mutation 'R3414:Spata13'
ID |
266745 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata13
|
Ensembl Gene |
ENSMUSG00000021990 |
Gene Name |
spermatogenesis associated 13 |
Synonyms |
ESTM11 |
MMRRC Submission |
040632-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3414 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
14 |
Chromosomal Location |
60871450-61002005 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 60944172 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 522
(T522A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123928
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000022566]
[ENSMUST00000160973]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000022566
AA Change: T522A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000022566 Gene: ENSMUSG00000021990 AA Change: T522A
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: ENSMUST00000159476
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000160095
|
SMART Domains |
Protein: ENSMUSP00000123744 Gene: ENSMUSG00000021990
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: T522A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000123928 Gene: ENSMUSG00000021990 AA Change: T522A
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 |
|
Meta Mutation Damage Score |
0.0898 |
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.1%
|
Validation Efficiency |
98% (42/43) |
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: 42 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
3425401B19Rik |
T |
A |
14: 32,383,559 (GRCm39) |
Q802L |
probably benign |
Het |
Atp8b4 |
C |
A |
2: 126,217,677 (GRCm39) |
W613L |
probably damaging |
Het |
AW554918 |
C |
A |
18: 25,533,129 (GRCm39) |
T261K |
possibly damaging |
Het |
Cttnbp2 |
A |
G |
6: 18,389,204 (GRCm39) |
V1178A |
probably benign |
Het |
Ddx18 |
T |
C |
1: 121,489,878 (GRCm39) |
N177S |
probably benign |
Het |
Dhx29 |
A |
G |
13: 113,083,807 (GRCm39) |
K621E |
probably damaging |
Het |
Eef2 |
G |
T |
10: 81,013,692 (GRCm39) |
R66L |
probably damaging |
Het |
Ergic2 |
A |
G |
6: 148,108,179 (GRCm39) |
|
probably benign |
Het |
Fcna |
G |
C |
2: 25,517,505 (GRCm39) |
P49A |
probably damaging |
Het |
Hace1 |
T |
A |
10: 45,524,771 (GRCm39) |
D234E |
possibly damaging |
Het |
Ifi202b |
A |
G |
1: 173,791,479 (GRCm39) |
S400P |
probably benign |
Het |
Ighv1-23 |
C |
T |
12: 114,728,087 (GRCm39) |
V112I |
probably benign |
Het |
Il4i1 |
T |
C |
7: 44,486,082 (GRCm39) |
L22P |
probably damaging |
Het |
Il7 |
G |
T |
3: 7,641,093 (GRCm39) |
Q67K |
probably benign |
Het |
Inpp5d |
C |
A |
1: 87,595,779 (GRCm39) |
T175N |
possibly damaging |
Het |
Klk1b26 |
A |
G |
7: 43,666,297 (GRCm39) |
I247V |
probably benign |
Het |
Klrc1 |
A |
G |
6: 129,654,726 (GRCm39) |
|
probably null |
Het |
Lama1 |
T |
C |
17: 68,044,598 (GRCm39) |
C166R |
probably damaging |
Het |
Mrps5 |
A |
G |
2: 127,438,832 (GRCm39) |
D219G |
probably benign |
Het |
Mtus1 |
T |
C |
8: 41,501,100 (GRCm39) |
T806A |
probably damaging |
Het |
Naip2 |
G |
A |
13: 100,325,771 (GRCm39) |
R46* |
probably null |
Het |
Nos2 |
A |
T |
11: 78,848,414 (GRCm39) |
Y1107F |
probably benign |
Het |
Nsd3 |
T |
C |
8: 26,190,047 (GRCm39) |
I135T |
probably damaging |
Het |
Or13c7b |
C |
T |
4: 43,821,258 (GRCm39) |
M34I |
probably benign |
Het |
Or2d4 |
G |
T |
7: 106,543,383 (GRCm39) |
S275* |
probably null |
Het |
Or6c65 |
A |
G |
10: 129,604,301 (GRCm39) |
H312R |
probably benign |
Het |
Pla2g4f |
T |
C |
2: 120,133,587 (GRCm39) |
S579G |
probably benign |
Het |
Ppip5k1 |
A |
T |
2: 121,158,142 (GRCm39) |
S252R |
probably damaging |
Het |
Proc |
T |
A |
18: 32,256,738 (GRCm39) |
T310S |
probably benign |
Het |
Psg21 |
A |
T |
7: 18,386,305 (GRCm39) |
L227Q |
probably damaging |
Het |
Rusc2 |
T |
G |
4: 43,415,935 (GRCm39) |
S414A |
probably damaging |
Het |
Sec24a |
T |
A |
11: 51,620,285 (GRCm39) |
N456Y |
probably damaging |
Het |
Slc1a7 |
A |
G |
4: 107,868,191 (GRCm39) |
E497G |
probably benign |
Het |
Spag8 |
T |
A |
4: 43,651,606 (GRCm39) |
S423C |
probably damaging |
Het |
Top1mt |
T |
C |
15: 75,529,025 (GRCm39) |
N573S |
probably benign |
Het |
Trim69 |
T |
C |
2: 122,009,125 (GRCm39) |
V395A |
probably benign |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Tusc1 |
C |
A |
4: 93,223,173 (GRCm39) |
R162L |
probably damaging |
Het |
Unc13b |
T |
A |
4: 43,234,658 (GRCm39) |
|
probably benign |
Het |
Utp25 |
A |
C |
1: 192,810,810 (GRCm39) |
S64R |
possibly damaging |
Het |
Vmn1r2 |
T |
A |
4: 3,172,696 (GRCm39) |
M205K |
probably damaging |
Het |
Zfhx4 |
A |
G |
3: 5,468,883 (GRCm39) |
K3014E |
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 |
|
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 |
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'- GCTGGCATTCTTAATGTCTCACTG -3'
(R):5'- CTGCAGCAATGGCATCTTC -3'
Sequencing Primer
(F):5'- TGGTCCCCCAAAGATCTCTG -3'
(R):5'- CTTCAGGAATGGACAAGCTTCTGC -3'
|
Posted On |
2015-02-18 |