Incidental Mutation 'R8799:Spata31d1c'
| ID |
671459 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1c
|
| Ensembl Gene |
ENSMUSG00000074849 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1C |
| Synonyms |
4932441B19Rik, Fam75d1c |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8799 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
65180872-65185816 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 65184140 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 561
(S561P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000097024
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000099427]
|
| AlphaFold |
E9QAF1 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000099427
AA Change: S561P
PolyPhen 2
Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000097024
Gene: ENSMUSG00000074849
AA Change: S561P
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
22 |
44 |
N/A |
INTRINSIC |
|
Pfam:DUF4599
|
63 |
148 |
2.4e-31 |
PFAM |
|
low complexity region
|
178 |
190 |
N/A |
INTRINSIC |
|
low complexity region
|
196 |
213 |
N/A |
INTRINSIC |
|
low complexity region
|
218 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
237 |
251 |
N/A |
INTRINSIC |
|
Pfam:FAM75
|
380 |
742 |
1.4e-120 |
PFAM |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| Validation Efficiency |
97% (57/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700020L24Rik |
T |
A |
11: 83,331,578 (GRCm39) |
C134S |
probably damaging |
Het |
| Acox3 |
T |
G |
5: 35,747,052 (GRCm39) |
F156L |
probably damaging |
Het |
| Adprhl1 |
T |
C |
8: 13,272,474 (GRCm39) |
E1428G |
probably benign |
Het |
| Arhgap40 |
A |
T |
2: 158,354,758 (GRCm39) |
M15L |
probably benign |
Het |
| Bahcc1 |
C |
A |
11: 120,177,173 (GRCm39) |
F2020L |
probably damaging |
Het |
| BC024063 |
A |
T |
10: 81,945,352 (GRCm39) |
H324L |
probably benign |
Het |
| Ccdc40 |
C |
A |
11: 119,155,292 (GRCm39) |
S1177R |
probably benign |
Het |
| Ccne2 |
A |
T |
4: 11,201,355 (GRCm39) |
R294S |
probably benign |
Het |
| Cib1 |
A |
C |
7: 79,882,291 (GRCm39) |
S6R |
probably damaging |
Het |
| Csnk2a1 |
A |
G |
2: 152,099,886 (GRCm39) |
E114G |
probably damaging |
Het |
| Cxxc1 |
A |
G |
18: 74,354,128 (GRCm39) |
|
probably benign |
Het |
| Decr2 |
A |
C |
17: 26,307,911 (GRCm39) |
I47M |
possibly damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,327,027 (GRCm39) |
|
probably null |
Het |
| Dse |
G |
A |
10: 34,060,149 (GRCm39) |
|
probably benign |
Het |
| Eml6 |
A |
G |
11: 29,708,981 (GRCm39) |
V1480A |
probably benign |
Het |
| Erap1 |
A |
G |
13: 74,805,755 (GRCm39) |
I165M |
probably benign |
Het |
| Fan1 |
G |
T |
7: 64,016,406 (GRCm39) |
Q573K |
probably damaging |
Het |
| Fndc3a |
G |
A |
14: 72,793,955 (GRCm39) |
T906I |
probably benign |
Het |
| Gm21915 |
A |
C |
9: 40,582,006 (GRCm39) |
H33P |
possibly damaging |
Het |
| Idh1 |
CA |
CAA |
1: 65,204,347 (GRCm39) |
|
probably null |
Het |
| Lama3 |
G |
T |
18: 12,624,000 (GRCm39) |
Q1384H |
probably damaging |
Het |
| Lrrc34 |
C |
T |
3: 30,678,979 (GRCm39) |
E373K |
probably benign |
Het |
| Ly75 |
A |
G |
2: 60,178,785 (GRCm39) |
F677L |
probably damaging |
Het |
| Megf11 |
A |
G |
9: 64,588,673 (GRCm39) |
D493G |
probably benign |
Het |
| Mta3 |
A |
T |
17: 84,096,369 (GRCm39) |
I348F |
possibly damaging |
Het |
| Myo1d |
A |
T |
11: 80,575,205 (GRCm39) |
F170L |
probably damaging |
Het |
| Nfkbia |
A |
G |
12: 55,539,083 (GRCm39) |
|
probably benign |
Het |
| Nfx1 |
A |
T |
4: 41,023,727 (GRCm39) |
E1045D |
probably damaging |
Het |
| Npffr2 |
T |
G |
5: 89,731,177 (GRCm39) |
V369G |
probably benign |
Het |
| Or14c44 |
T |
C |
7: 86,061,854 (GRCm39) |
C95R |
probably damaging |
Het |
| Or4d5 |
A |
T |
9: 40,011,985 (GRCm39) |
M267K |
possibly damaging |
Het |
| Or4f59 |
A |
T |
2: 111,872,528 (GRCm39) |
I283N |
probably damaging |
Het |
| Or5t18 |
A |
T |
2: 86,636,575 (GRCm39) |
M256K |
probably damaging |
Het |
| Or5w13 |
G |
T |
2: 87,524,057 (GRCm39) |
H56Q |
possibly damaging |
Het |
| Otoa |
G |
A |
7: 120,691,894 (GRCm39) |
E41K |
possibly damaging |
Het |
| Podxl |
A |
G |
6: 31,501,400 (GRCm39) |
V385A |
probably damaging |
Het |
| Ppp4r4 |
C |
T |
12: 103,567,623 (GRCm39) |
T673M |
possibly damaging |
Het |
| Rbm20 |
G |
T |
19: 53,821,120 (GRCm39) |
C525F |
probably damaging |
Het |
| Rnf17 |
A |
T |
14: 56,737,886 (GRCm39) |
E1222D |
probably damaging |
Het |
| Ros1 |
G |
A |
10: 51,922,143 (GRCm39) |
A2331V |
probably benign |
Het |
| Rrs1 |
T |
A |
1: 9,615,819 (GRCm39) |
I24N |
probably damaging |
Het |
| Sec11a |
A |
G |
7: 80,584,850 (GRCm39) |
V29A |
possibly damaging |
Het |
| Shisa3 |
T |
A |
5: 67,768,749 (GRCm39) |
Y216* |
probably null |
Het |
| Slc22a2 |
A |
T |
17: 12,831,425 (GRCm39) |
Y405F |
probably benign |
Het |
| Slc2a12 |
A |
T |
10: 22,568,105 (GRCm39) |
M511L |
possibly damaging |
Het |
| Slc38a9 |
T |
A |
13: 112,840,136 (GRCm39) |
H338Q |
probably damaging |
Het |
| Slco1c1 |
T |
G |
6: 141,505,531 (GRCm39) |
S486A |
probably benign |
Het |
| Slit2 |
T |
C |
5: 48,461,524 (GRCm39) |
S1524P |
possibly damaging |
Het |
| Stac3 |
T |
A |
10: 127,340,781 (GRCm39) |
M182K |
probably damaging |
Het |
| Stt3b |
T |
C |
9: 115,077,685 (GRCm39) |
E689G |
probably damaging |
Het |
| Suclg1 |
A |
G |
6: 73,248,091 (GRCm39) |
K271E |
probably benign |
Het |
| Tas1r1 |
A |
G |
4: 152,116,708 (GRCm39) |
Y309H |
probably benign |
Het |
| Tbc1d5 |
TGC |
TGCCGC |
17: 51,106,969 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TG |
TGCGG |
17: 51,106,978 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TTGCTGCTGCTGCTGCTG |
TTGCTGCTGCTGCTGCTGCTG |
17: 51,106,962 (GRCm39) |
|
probably benign |
Het |
| Tbc1d5 |
TGC |
TGCGGC |
17: 51,106,963 (GRCm39) |
|
probably benign |
Het |
| Tmem101 |
A |
G |
11: 102,044,336 (GRCm39) |
F184L |
probably benign |
Het |
| Zfp474 |
A |
G |
18: 52,772,166 (GRCm39) |
Q273R |
probably benign |
Het |
| Zfyve28 |
A |
G |
5: 34,390,670 (GRCm39) |
L197P |
probably damaging |
Het |
|
| Other mutations in Spata31d1c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01639:Spata31d1c
|
APN |
13 |
65,183,903 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02830:Spata31d1c
|
APN |
13 |
65,183,180 (GRCm39) |
missense |
probably benign |
0.25 |
|
IGL02947:Spata31d1c
|
APN |
13 |
65,182,759 (GRCm39) |
nonsense |
probably null |
|
|
IGL03133:Spata31d1c
|
APN |
13 |
65,182,799 (GRCm39) |
missense |
probably benign |
0.18 |
|
IGL03176:Spata31d1c
|
APN |
13 |
65,184,825 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03183:Spata31d1c
|
APN |
13 |
65,183,009 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
IGL03206:Spata31d1c
|
APN |
13 |
65,183,407 (GRCm39) |
missense |
probably benign |
0.41 |
|
PIT4382001:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0054:Spata31d1c
|
UTSW |
13 |
65,180,876 (GRCm39) |
start gained |
probably benign |
|
|
R0959:Spata31d1c
|
UTSW |
13 |
65,184,129 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1232:Spata31d1c
|
UTSW |
13 |
65,184,428 (GRCm39) |
missense |
probably benign |
|
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1347:Spata31d1c
|
UTSW |
13 |
65,183,202 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1381:Spata31d1c
|
UTSW |
13 |
65,184,368 (GRCm39) |
missense |
probably benign |
0.08 |
|
R1573:Spata31d1c
|
UTSW |
13 |
65,182,883 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1582:Spata31d1c
|
UTSW |
13 |
65,181,038 (GRCm39) |
missense |
probably benign |
|
|
R1639:Spata31d1c
|
UTSW |
13 |
65,183,853 (GRCm39) |
missense |
probably benign |
|
|
R1716:Spata31d1c
|
UTSW |
13 |
65,181,030 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1781:Spata31d1c
|
UTSW |
13 |
65,183,985 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1907:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.03 |
|
R2012:Spata31d1c
|
UTSW |
13 |
65,183,041 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R2152:Spata31d1c
|
UTSW |
13 |
65,181,779 (GRCm39) |
critical splice donor site |
probably null |
|
|
R2211:Spata31d1c
|
UTSW |
13 |
65,183,753 (GRCm39) |
missense |
probably benign |
0.04 |
|
R2571:Spata31d1c
|
UTSW |
13 |
65,184,198 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2908:Spata31d1c
|
UTSW |
13 |
65,181,005 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R3978:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3979:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3980:Spata31d1c
|
UTSW |
13 |
65,182,974 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R3981:Spata31d1c
|
UTSW |
13 |
65,182,925 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R4014:Spata31d1c
|
UTSW |
13 |
65,183,213 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,183,531 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4255:Spata31d1c
|
UTSW |
13 |
65,183,502 (GRCm39) |
nonsense |
probably null |
|
|
R4592:Spata31d1c
|
UTSW |
13 |
65,183,874 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4597:Spata31d1c
|
UTSW |
13 |
65,183,427 (GRCm39) |
nonsense |
probably null |
|
|
R4624:Spata31d1c
|
UTSW |
13 |
65,184,411 (GRCm39) |
missense |
probably benign |
|
|
R4641:Spata31d1c
|
UTSW |
13 |
65,182,862 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4863:Spata31d1c
|
UTSW |
13 |
65,183,604 (GRCm39) |
nonsense |
probably null |
|
|
R5084:Spata31d1c
|
UTSW |
13 |
65,182,944 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5152:Spata31d1c
|
UTSW |
13 |
65,183,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5230:Spata31d1c
|
UTSW |
13 |
65,183,248 (GRCm39) |
missense |
probably benign |
0.41 |
|
R5267:Spata31d1c
|
UTSW |
13 |
65,183,718 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5615:Spata31d1c
|
UTSW |
13 |
65,183,078 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
R5755:Spata31d1c
|
UTSW |
13 |
65,184,341 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5935:Spata31d1c
|
UTSW |
13 |
65,184,894 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R6017:Spata31d1c
|
UTSW |
13 |
65,182,893 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6131:Spata31d1c
|
UTSW |
13 |
65,183,485 (GRCm39) |
missense |
probably benign |
0.10 |
|
R6359:Spata31d1c
|
UTSW |
13 |
65,183,406 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R6723:Spata31d1c
|
UTSW |
13 |
65,183,758 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7028:Spata31d1c
|
UTSW |
13 |
65,183,877 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7336:Spata31d1c
|
UTSW |
13 |
65,183,942 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7426:Spata31d1c
|
UTSW |
13 |
65,183,175 (GRCm39) |
missense |
probably benign |
|
|
R7552:Spata31d1c
|
UTSW |
13 |
65,183,937 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7605:Spata31d1c
|
UTSW |
13 |
65,183,654 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7666:Spata31d1c
|
UTSW |
13 |
65,183,814 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8403:Spata31d1c
|
UTSW |
13 |
65,184,044 (GRCm39) |
missense |
probably benign |
0.42 |
|
R8445:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8513:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8515:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8523:Spata31d1c
|
UTSW |
13 |
65,180,991 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8817:Spata31d1c
|
UTSW |
13 |
65,182,376 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8854:Spata31d1c
|
UTSW |
13 |
65,183,804 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R8917:Spata31d1c
|
UTSW |
13 |
65,183,429 (GRCm39) |
missense |
probably benign |
0.02 |
|
R9084:Spata31d1c
|
UTSW |
13 |
65,182,959 (GRCm39) |
missense |
probably benign |
|
|
R9197:Spata31d1c
|
UTSW |
13 |
65,183,690 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9201:Spata31d1c
|
UTSW |
13 |
65,184,773 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R9261:Spata31d1c
|
UTSW |
13 |
65,184,680 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9516:Spata31d1c
|
UTSW |
13 |
65,184,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0022:Spata31d1c
|
UTSW |
13 |
65,184,741 (GRCm39) |
missense |
probably benign |
0.35 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAACTTAGGATCTGTGGGG -3'
(R):5'- AGCCCATAGTTGCTTTTGGC -3'
Sequencing Primer
(F):5'- GTATTTTCACAGCCCCCAGAATGAG -3'
(R):5'- CTGAGGGTGACTCTGGAAGTTC -3'
|
| Posted On |
2021-04-30 |
Incidental Mutation