Incidental Mutation 'R6208:Spata31d1a'
ID |
503284 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Spata31d1a
|
Ensembl Gene |
ENSMUSG00000050876 |
Gene Name |
spermatogenesis associated 31 subfamily D, member 1A |
Synonyms |
1700013B16Rik, Fam75d3, Fam75d1a |
MMRRC Submission |
044342-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.054)
|
Stock # |
R6208 (G1)
|
Quality Score |
91.0077 |
Status
|
Not validated
|
Chromosome |
13 |
Chromosomal Location |
59847897-59854401 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 59848378 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Methionine
at position 1250
(R1250M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152919
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000066510]
[ENSMUST00000224469]
[ENSMUST00000224982]
|
AlphaFold |
E9QA35 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000066510
AA Change: R1250M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000128533 Gene: ENSMUSG00000050876 AA Change: R1250M
Domain | Start | End | E-Value | Type |
transmembrane domain
|
31 |
53 |
N/A |
INTRINSIC |
Pfam:DUF4599
|
66 |
150 |
3.7e-25 |
PFAM |
low complexity region
|
196 |
217 |
N/A |
INTRINSIC |
low complexity region
|
240 |
266 |
N/A |
INTRINSIC |
Pfam:FAM75
|
400 |
772 |
2.9e-108 |
PFAM |
low complexity region
|
1144 |
1154 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000224469
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000224982
AA Change: R1250M
PolyPhen 2
Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225362
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.7%
|
Validation Efficiency |
98% (57/58) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl6a |
A |
T |
3: 32,766,043 (GRCm39) |
I18F |
probably benign |
Het |
Apol11a |
C |
T |
15: 77,401,241 (GRCm39) |
R243C |
probably damaging |
Het |
Asap3 |
A |
G |
4: 135,968,508 (GRCm39) |
M687V |
probably benign |
Het |
Axdnd1 |
C |
T |
1: 156,220,426 (GRCm39) |
|
probably benign |
Het |
Baz2b |
A |
G |
2: 59,755,150 (GRCm39) |
F1026S |
probably damaging |
Het |
Bsg |
T |
C |
10: 79,544,672 (GRCm39) |
L70P |
probably damaging |
Het |
Col10a1 |
A |
G |
10: 34,270,582 (GRCm39) |
N185D |
possibly damaging |
Het |
Col6a2 |
T |
A |
10: 76,450,891 (GRCm39) |
N50I |
possibly damaging |
Het |
Cux2 |
G |
A |
5: 121,998,885 (GRCm39) |
P1352S |
possibly damaging |
Het |
Defa25 |
A |
G |
8: 21,575,197 (GRCm39) |
|
probably null |
Het |
Emc1 |
G |
T |
4: 139,081,582 (GRCm39) |
R70L |
probably damaging |
Het |
Fat1 |
T |
C |
8: 45,480,650 (GRCm39) |
F3028S |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,573,435 (GRCm38) |
E205G |
probably benign |
Het |
Gaa |
C |
A |
11: 119,171,997 (GRCm39) |
A700D |
probably benign |
Het |
Gm20830 |
T |
G |
Y: 6,916,792 (GRCm39) |
E109A |
probably benign |
Homo |
Grm1 |
A |
T |
10: 10,595,690 (GRCm39) |
F646Y |
probably damaging |
Het |
Hp1bp3 |
A |
G |
4: 137,944,481 (GRCm39) |
|
probably benign |
Het |
Lce1d |
G |
A |
3: 92,593,312 (GRCm39) |
P34S |
unknown |
Het |
Lpar1 |
G |
A |
4: 58,504,630 (GRCm39) |
Q13* |
probably null |
Het |
Lrrc61 |
C |
T |
6: 48,545,839 (GRCm39) |
R221* |
probably null |
Het |
Map2 |
A |
G |
1: 66,470,749 (GRCm39) |
N328D |
probably damaging |
Het |
Mndal |
T |
A |
1: 173,684,988 (GRCm39) |
D527V |
possibly damaging |
Het |
Mycbp2 |
T |
G |
14: 103,532,664 (GRCm39) |
N430T |
probably benign |
Het |
Myo1e |
A |
G |
9: 70,283,887 (GRCm39) |
Y861C |
probably damaging |
Het |
Nav2 |
A |
G |
7: 49,213,851 (GRCm39) |
T1622A |
probably damaging |
Het |
Nom1 |
A |
T |
5: 29,654,617 (GRCm39) |
H773L |
possibly damaging |
Het |
Npc2 |
G |
T |
12: 84,803,919 (GRCm39) |
P144Q |
probably damaging |
Het |
Npnt |
A |
G |
3: 132,655,774 (GRCm39) |
|
probably benign |
Het |
Nxpe4 |
A |
T |
9: 48,304,678 (GRCm39) |
Y255F |
probably benign |
Het |
Obscn |
G |
A |
11: 58,958,474 (GRCm39) |
A3769V |
possibly damaging |
Het |
Optc |
T |
C |
1: 133,832,737 (GRCm39) |
D121G |
probably damaging |
Het |
Pard6a |
T |
C |
8: 106,428,866 (GRCm39) |
F26L |
probably damaging |
Het |
Pcdhga4 |
T |
A |
18: 37,819,762 (GRCm39) |
I437N |
probably damaging |
Het |
Phf12 |
G |
T |
11: 77,914,417 (GRCm39) |
V71F |
probably damaging |
Het |
Phf21b |
T |
A |
15: 84,679,317 (GRCm39) |
S282C |
probably damaging |
Het |
Pou5f1 |
T |
C |
17: 35,821,357 (GRCm39) |
F323S |
possibly damaging |
Het |
Psmd5 |
A |
T |
2: 34,757,023 (GRCm39) |
I67N |
probably damaging |
Het |
Pyroxd1 |
A |
G |
6: 142,303,182 (GRCm39) |
K273R |
probably benign |
Het |
Rnd2 |
C |
T |
11: 101,359,825 (GRCm39) |
L57F |
probably damaging |
Het |
Rpusd1 |
A |
T |
17: 25,949,352 (GRCm39) |
H174L |
probably damaging |
Het |
Ryr2 |
T |
C |
13: 11,910,106 (GRCm39) |
K94R |
probably benign |
Het |
Scn2b |
A |
G |
9: 45,029,328 (GRCm39) |
R3G |
probably benign |
Het |
Sf3b2 |
A |
T |
19: 5,325,126 (GRCm39) |
M782K |
possibly damaging |
Het |
Skint7 |
A |
G |
4: 111,842,073 (GRCm39) |
|
probably null |
Het |
Slc43a1 |
A |
G |
2: 84,687,184 (GRCm39) |
I319V |
possibly damaging |
Het |
Snupn |
T |
A |
9: 56,890,247 (GRCm39) |
M356K |
probably damaging |
Het |
Sprr2h |
T |
C |
3: 92,294,216 (GRCm39) |
V21A |
unknown |
Het |
Srpra |
A |
G |
9: 35,127,291 (GRCm39) |
T614A |
possibly damaging |
Het |
Stk36 |
A |
T |
1: 74,650,591 (GRCm39) |
Q327L |
probably benign |
Het |
Syne3 |
A |
G |
12: 104,909,622 (GRCm39) |
I738T |
probably benign |
Het |
Tcea3 |
A |
T |
4: 135,975,360 (GRCm39) |
M1L |
probably damaging |
Het |
Tead2 |
G |
T |
7: 44,867,526 (GRCm39) |
R85L |
probably damaging |
Het |
Thap7 |
T |
C |
16: 17,346,300 (GRCm39) |
N228D |
possibly damaging |
Het |
Trip11 |
T |
A |
12: 101,865,154 (GRCm39) |
E173V |
probably damaging |
Het |
Ttc38 |
T |
A |
15: 85,725,698 (GRCm39) |
M187K |
possibly damaging |
Het |
Vmn1r193 |
T |
A |
13: 22,403,138 (GRCm39) |
T285S |
possibly damaging |
Het |
Vmn2r106 |
T |
C |
17: 20,488,591 (GRCm39) |
T603A |
probably damaging |
Het |
Vps39 |
A |
T |
2: 120,163,897 (GRCm39) |
M355K |
probably damaging |
Het |
Wnt5b |
G |
T |
6: 119,423,473 (GRCm39) |
L51I |
probably damaging |
Het |
Xxylt1 |
A |
G |
16: 30,826,626 (GRCm39) |
Y230H |
probably benign |
Het |
|
Other mutations in Spata31d1a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00915:Spata31d1a
|
APN |
13 |
59,849,999 (GRCm39) |
missense |
probably benign |
0.27 |
IGL01397:Spata31d1a
|
APN |
13 |
59,849,552 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL01448:Spata31d1a
|
APN |
13 |
59,849,373 (GRCm39) |
missense |
probably benign |
0.06 |
IGL02715:Spata31d1a
|
APN |
13 |
59,851,549 (GRCm39) |
missense |
probably benign |
0.44 |
IGL02983:Spata31d1a
|
APN |
13 |
59,851,508 (GRCm39) |
missense |
possibly damaging |
0.65 |
IGL03224:Spata31d1a
|
APN |
13 |
59,848,840 (GRCm39) |
missense |
possibly damaging |
0.85 |
PIT1430001:Spata31d1a
|
UTSW |
13 |
59,849,010 (GRCm39) |
missense |
probably benign |
|
R0302:Spata31d1a
|
UTSW |
13 |
59,850,964 (GRCm39) |
missense |
probably benign |
|
R0387:Spata31d1a
|
UTSW |
13 |
59,851,315 (GRCm39) |
missense |
probably damaging |
0.99 |
R0464:Spata31d1a
|
UTSW |
13 |
59,849,573 (GRCm39) |
missense |
possibly damaging |
0.85 |
R0606:Spata31d1a
|
UTSW |
13 |
59,850,245 (GRCm39) |
missense |
probably benign |
0.03 |
R0617:Spata31d1a
|
UTSW |
13 |
59,850,073 (GRCm39) |
missense |
possibly damaging |
0.53 |
R0691:Spata31d1a
|
UTSW |
13 |
59,848,199 (GRCm39) |
missense |
possibly damaging |
0.93 |
R0746:Spata31d1a
|
UTSW |
13 |
59,850,077 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1019:Spata31d1a
|
UTSW |
13 |
59,850,182 (GRCm39) |
missense |
probably benign |
|
R1397:Spata31d1a
|
UTSW |
13 |
59,852,853 (GRCm39) |
splice site |
probably benign |
|
R1543:Spata31d1a
|
UTSW |
13 |
59,850,056 (GRCm39) |
missense |
probably benign |
|
R1619:Spata31d1a
|
UTSW |
13 |
59,850,247 (GRCm39) |
nonsense |
probably null |
|
R1799:Spata31d1a
|
UTSW |
13 |
59,851,216 (GRCm39) |
missense |
probably benign |
|
R1820:Spata31d1a
|
UTSW |
13 |
59,849,069 (GRCm39) |
missense |
possibly damaging |
0.86 |
R1885:Spata31d1a
|
UTSW |
13 |
59,849,821 (GRCm39) |
missense |
probably damaging |
0.99 |
R1909:Spata31d1a
|
UTSW |
13 |
59,850,509 (GRCm39) |
missense |
probably damaging |
0.99 |
R2012:Spata31d1a
|
UTSW |
13 |
59,850,370 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2099:Spata31d1a
|
UTSW |
13 |
59,853,885 (GRCm39) |
missense |
probably damaging |
0.97 |
R2132:Spata31d1a
|
UTSW |
13 |
59,848,857 (GRCm39) |
missense |
probably damaging |
0.96 |
R2224:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
R2225:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
R2226:Spata31d1a
|
UTSW |
13 |
59,851,529 (GRCm39) |
missense |
probably benign |
|
R2358:Spata31d1a
|
UTSW |
13 |
59,851,702 (GRCm39) |
missense |
probably benign |
0.00 |
R2495:Spata31d1a
|
UTSW |
13 |
59,849,807 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3081:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
R3151:Spata31d1a
|
UTSW |
13 |
59,849,180 (GRCm39) |
missense |
probably benign |
0.06 |
R3971:Spata31d1a
|
UTSW |
13 |
59,849,971 (GRCm39) |
missense |
possibly damaging |
0.85 |
R4156:Spata31d1a
|
UTSW |
13 |
59,852,861 (GRCm39) |
missense |
possibly damaging |
0.92 |
R4760:Spata31d1a
|
UTSW |
13 |
59,849,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R4767:Spata31d1a
|
UTSW |
13 |
59,848,969 (GRCm39) |
missense |
probably benign |
0.03 |
R4877:Spata31d1a
|
UTSW |
13 |
59,850,337 (GRCm39) |
missense |
probably damaging |
0.99 |
R4894:Spata31d1a
|
UTSW |
13 |
59,849,542 (GRCm39) |
missense |
probably damaging |
0.98 |
R4961:Spata31d1a
|
UTSW |
13 |
59,849,716 (GRCm39) |
missense |
possibly damaging |
0.86 |
R4990:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
R4991:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
R4992:Spata31d1a
|
UTSW |
13 |
59,850,965 (GRCm39) |
missense |
probably benign |
0.00 |
R5088:Spata31d1a
|
UTSW |
13 |
59,848,966 (GRCm39) |
splice site |
probably null |
|
R5094:Spata31d1a
|
UTSW |
13 |
59,852,858 (GRCm39) |
critical splice donor site |
probably null |
|
R5330:Spata31d1a
|
UTSW |
13 |
59,848,217 (GRCm39) |
missense |
possibly damaging |
0.86 |
R5587:Spata31d1a
|
UTSW |
13 |
59,850,432 (GRCm39) |
missense |
probably damaging |
0.96 |
R5832:Spata31d1a
|
UTSW |
13 |
59,849,380 (GRCm39) |
missense |
probably damaging |
0.98 |
R6073:Spata31d1a
|
UTSW |
13 |
59,850,808 (GRCm39) |
missense |
probably damaging |
0.98 |
R6224:Spata31d1a
|
UTSW |
13 |
59,854,134 (GRCm39) |
start gained |
probably benign |
|
R6250:Spata31d1a
|
UTSW |
13 |
59,849,615 (GRCm39) |
missense |
possibly damaging |
0.93 |
R6359:Spata31d1a
|
UTSW |
13 |
59,850,920 (GRCm39) |
missense |
probably benign |
|
R6806:Spata31d1a
|
UTSW |
13 |
59,851,032 (GRCm39) |
missense |
probably benign |
|
R6848:Spata31d1a
|
UTSW |
13 |
59,849,777 (GRCm39) |
missense |
possibly damaging |
0.91 |
R6851:Spata31d1a
|
UTSW |
13 |
59,851,725 (GRCm39) |
missense |
unknown |
|
R6985:Spata31d1a
|
UTSW |
13 |
59,850,907 (GRCm39) |
missense |
probably benign |
0.15 |
R7007:Spata31d1a
|
UTSW |
13 |
59,851,448 (GRCm39) |
missense |
probably benign |
|
R7037:Spata31d1a
|
UTSW |
13 |
59,848,138 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7124:Spata31d1a
|
UTSW |
13 |
59,850,301 (GRCm39) |
missense |
probably damaging |
0.99 |
R7271:Spata31d1a
|
UTSW |
13 |
59,849,913 (GRCm39) |
missense |
probably benign |
0.00 |
R7346:Spata31d1a
|
UTSW |
13 |
59,851,015 (GRCm39) |
missense |
probably benign |
|
R7556:Spata31d1a
|
UTSW |
13 |
59,849,798 (GRCm39) |
missense |
probably benign |
0.00 |
R7581:Spata31d1a
|
UTSW |
13 |
59,851,953 (GRCm39) |
critical splice donor site |
probably null |
|
R7891:Spata31d1a
|
UTSW |
13 |
59,848,139 (GRCm39) |
missense |
possibly damaging |
0.96 |
R7995:Spata31d1a
|
UTSW |
13 |
59,848,924 (GRCm39) |
missense |
probably benign |
0.06 |
R8379:Spata31d1a
|
UTSW |
13 |
59,850,668 (GRCm39) |
missense |
probably benign |
0.00 |
R8497:Spata31d1a
|
UTSW |
13 |
59,848,988 (GRCm39) |
missense |
possibly damaging |
0.91 |
R8837:Spata31d1a
|
UTSW |
13 |
59,850,596 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9108:Spata31d1a
|
UTSW |
13 |
59,850,982 (GRCm39) |
missense |
probably benign |
0.00 |
Z1177:Spata31d1a
|
UTSW |
13 |
59,850,899 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TTTTCCTGTAGGGCCACACC -3'
(R):5'- TCAGGAAAATCAGTTCACCAGC -3'
Sequencing Primer
(F):5'- CACTGGAGAGCAGGAACCTCTG -3'
(R):5'- CCAGGTGAAGGGCTTCTG -3'
|
Posted On |
2018-02-27 |