Incidental Mutation 'R6266:Spata31d1e'
| ID |
507027 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1e
|
| Ensembl Gene |
ENSMUSG00000051054 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1E |
| Synonyms |
1700014D04Rik |
| MMRRC Submission |
044378-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.054)
|
| Stock # |
R6266 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
59888656-59894566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 59890126 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Isoleucine
at position 147
(V147I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000052403
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055343]
[ENSMUST00000178508]
[ENSMUST00000180139]
|
| AlphaFold |
J3QMS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055343
AA Change: V147I
PolyPhen 2
Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: V147I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
204 |
215 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
264 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000178508
|
| SMART Domains |
Protein: ENSMUSP00000136897
Gene: ENSMUSG00000051054
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM75
|
66 |
99 |
7.4e-14 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000180139
AA Change: V565I
PolyPhen 2
Score 0.062 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: V565I
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:FAM75
|
66 |
439 |
6.9e-97 |
PFAM |
|
low complexity region
|
622 |
633 |
N/A |
INTRINSIC |
|
low complexity region
|
671 |
693 |
N/A |
INTRINSIC |
|
low complexity region
|
737 |
763 |
N/A |
INTRINSIC |
|
low complexity region
|
824 |
835 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181700
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224350
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000224724
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225577
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 98.8%
- 20x: 96.7%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akr1c12 |
T |
C |
13: 4,320,206 (GRCm39) |
T295A |
probably benign |
Het |
| Aldh2 |
C |
A |
5: 121,706,997 (GRCm39) |
V217L |
probably damaging |
Het |
| Arap3 |
G |
A |
18: 38,123,844 (GRCm39) |
R392C |
probably damaging |
Het |
| Aurkaip1 |
T |
G |
4: 155,916,977 (GRCm39) |
L75R |
probably damaging |
Het |
| Blm |
C |
A |
7: 80,149,688 (GRCm39) |
K640N |
probably benign |
Het |
| Brap |
A |
T |
5: 121,823,328 (GRCm39) |
T487S |
probably benign |
Het |
| Ccser2 |
G |
A |
14: 36,601,632 (GRCm39) |
P276L |
probably damaging |
Het |
| Cdc42bpg |
A |
G |
19: 6,361,503 (GRCm39) |
E343G |
probably damaging |
Het |
| Cecr2 |
A |
G |
6: 120,738,647 (GRCm39) |
S1097G |
probably benign |
Het |
| D7Ertd443e |
A |
T |
7: 133,951,514 (GRCm39) |
V53D |
probably damaging |
Het |
| Ddx3y |
G |
A |
Y: 1,266,635 (GRCm39) |
T274I |
probably damaging |
Homo |
| Dnah5 |
T |
A |
15: 28,335,773 (GRCm39) |
F2246L |
possibly damaging |
Het |
| Dock3 |
T |
A |
9: 106,841,952 (GRCm39) |
H959L |
probably damaging |
Het |
| Dpy19l1 |
A |
G |
9: 24,350,442 (GRCm39) |
S406P |
probably damaging |
Het |
| Efcab8 |
T |
C |
2: 153,625,688 (GRCm39) |
L116P |
probably damaging |
Het |
| Efnb2 |
T |
C |
8: 8,710,524 (GRCm39) |
I31V |
probably benign |
Het |
| Fbxl12 |
A |
T |
9: 20,549,911 (GRCm39) |
L271Q |
probably damaging |
Het |
| Fmn1 |
T |
A |
2: 113,426,683 (GRCm39) |
N1133K |
probably damaging |
Het |
| Frmpd2 |
T |
C |
14: 33,287,864 (GRCm39) |
S1219P |
probably benign |
Het |
| Gm7298 |
A |
T |
6: 121,759,663 (GRCm39) |
R1187S |
probably damaging |
Het |
| H6pd |
T |
C |
4: 150,080,414 (GRCm39) |
I136V |
probably benign |
Het |
| Hyal2 |
A |
G |
9: 107,447,914 (GRCm39) |
N189S |
probably benign |
Het |
| Jmjd1c |
C |
T |
10: 67,085,439 (GRCm39) |
P2410S |
probably damaging |
Het |
| Larp1 |
A |
G |
11: 57,933,089 (GRCm39) |
D231G |
probably damaging |
Het |
| Lilra5 |
T |
A |
7: 4,244,927 (GRCm39) |
S233T |
possibly damaging |
Het |
| Lrrc43 |
T |
C |
5: 123,641,340 (GRCm39) |
F508S |
probably damaging |
Het |
| Marchf4 |
T |
C |
1: 72,491,647 (GRCm39) |
Y208C |
probably damaging |
Het |
| Mtarc2 |
T |
C |
1: 184,566,140 (GRCm39) |
R85G |
probably damaging |
Het |
| Nr1h2 |
A |
T |
7: 44,201,476 (GRCm39) |
C45* |
probably null |
Het |
| Or10ag2 |
T |
A |
2: 87,249,350 (GRCm39) |
S319R |
probably benign |
Het |
| Or2n1e |
A |
G |
17: 38,586,039 (GRCm39) |
I126V |
probably benign |
Het |
| Ppp2r5d |
G |
T |
17: 46,996,629 (GRCm39) |
|
probably null |
Het |
| Prpf40a |
A |
T |
2: 53,046,639 (GRCm39) |
S324T |
probably benign |
Het |
| Psmb7 |
T |
C |
2: 38,530,199 (GRCm39) |
D94G |
probably damaging |
Het |
| Psmd11 |
A |
G |
11: 80,336,767 (GRCm39) |
T140A |
probably benign |
Het |
| Pygm |
T |
C |
19: 6,448,169 (GRCm39) |
I737T |
probably damaging |
Het |
| Rbp3 |
G |
A |
14: 33,676,418 (GRCm39) |
R122H |
probably benign |
Het |
| Relch |
T |
G |
1: 105,659,007 (GRCm39) |
|
probably null |
Het |
| Rrp8 |
T |
C |
7: 105,385,596 (GRCm39) |
E3G |
probably damaging |
Het |
| Sacm1l |
T |
C |
9: 123,371,485 (GRCm39) |
S37P |
probably damaging |
Het |
| Slc12a3 |
A |
G |
8: 95,085,099 (GRCm39) |
R939G |
possibly damaging |
Het |
| Slc20a1 |
T |
C |
2: 129,051,814 (GRCm39) |
S608P |
possibly damaging |
Het |
| Sntg1 |
T |
C |
1: 8,624,953 (GRCm39) |
Q281R |
possibly damaging |
Het |
| Tefm |
A |
G |
11: 80,028,814 (GRCm39) |
L194P |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,547 (GRCm39) |
V145E |
probably damaging |
Het |
| Tmem231 |
T |
A |
8: 112,641,897 (GRCm39) |
E219V |
probably null |
Het |
| Tmx3 |
T |
A |
18: 90,555,334 (GRCm39) |
|
probably null |
Het |
| Tns3 |
G |
A |
11: 8,442,987 (GRCm39) |
P459S |
probably damaging |
Het |
| Trav13d-1 |
T |
A |
14: 53,089,220 (GRCm39) |
S76R |
probably benign |
Het |
| Trp63 |
A |
G |
16: 25,681,210 (GRCm39) |
N254S |
probably damaging |
Het |
| Tsen34 |
A |
G |
7: 3,696,984 (GRCm39) |
|
probably benign |
Het |
| Unc13d |
A |
G |
11: 115,959,064 (GRCm39) |
V701A |
probably damaging |
Het |
| Usp36 |
A |
G |
11: 118,159,411 (GRCm39) |
S513P |
probably damaging |
Het |
| Uspl1 |
T |
A |
5: 149,141,176 (GRCm39) |
S392T |
probably damaging |
Het |
| Vmn2r102 |
T |
A |
17: 19,899,007 (GRCm39) |
C450S |
probably benign |
Het |
| Zfp128 |
T |
C |
7: 12,624,897 (GRCm39) |
Y422H |
possibly damaging |
Het |
| Zkscan7 |
C |
T |
9: 122,724,299 (GRCm39) |
Q423* |
probably null |
Het |
|
| Other mutations in Spata31d1e |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
BB010:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
BB020:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0838:Spata31d1e
|
UTSW |
13 |
59,890,282 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R1483:Spata31d1e
|
UTSW |
13 |
59,890,717 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1794:Spata31d1e
|
UTSW |
13 |
59,890,434 (GRCm39) |
missense |
probably benign |
0.22 |
|
R1842:Spata31d1e
|
UTSW |
13 |
59,890,320 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1969:Spata31d1e
|
UTSW |
13 |
59,890,599 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2027:Spata31d1e
|
UTSW |
13 |
59,890,401 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R2206:Spata31d1e
|
UTSW |
13 |
59,890,920 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2207:Spata31d1e
|
UTSW |
13 |
59,890,920 (GRCm39) |
missense |
probably benign |
0.40 |
|
R2882:Spata31d1e
|
UTSW |
13 |
59,890,757 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3508:Spata31d1e
|
UTSW |
13 |
59,890,319 (GRCm39) |
nonsense |
probably null |
|
|
R4447:Spata31d1e
|
UTSW |
13 |
59,890,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
R4560:Spata31d1e
|
UTSW |
13 |
59,889,571 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4846:Spata31d1e
|
UTSW |
13 |
59,890,047 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5186:Spata31d1e
|
UTSW |
13 |
59,891,553 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5510:Spata31d1e
|
UTSW |
13 |
59,890,234 (GRCm39) |
splice site |
probably null |
|
|
R5580:Spata31d1e
|
UTSW |
13 |
59,890,070 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5752:Spata31d1e
|
UTSW |
13 |
59,891,016 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6267:Spata31d1e
|
UTSW |
13 |
59,890,497 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6296:Spata31d1e
|
UTSW |
13 |
59,890,497 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6939:Spata31d1e
|
UTSW |
13 |
59,889,872 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R6973:Spata31d1e
|
UTSW |
13 |
59,890,521 (GRCm39) |
missense |
probably benign |
0.14 |
|
R7107:Spata31d1e
|
UTSW |
13 |
59,889,997 (GRCm39) |
nonsense |
probably null |
|
|
R7123:Spata31d1e
|
UTSW |
13 |
59,891,254 (GRCm39) |
nonsense |
probably null |
|
|
R7254:Spata31d1e
|
UTSW |
13 |
59,889,790 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7354:Spata31d1e
|
UTSW |
13 |
59,889,648 (GRCm39) |
nonsense |
probably null |
|
|
R7536:Spata31d1e
|
UTSW |
13 |
59,889,556 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7729:Spata31d1e
|
UTSW |
13 |
59,889,437 (GRCm39) |
missense |
not run |
|
|
R7912:Spata31d1e
|
UTSW |
13 |
59,890,329 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7933:Spata31d1e
|
UTSW |
13 |
59,891,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8029:Spata31d1e
|
UTSW |
13 |
59,890,191 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R8347:Spata31d1e
|
UTSW |
13 |
59,890,050 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R8370:Spata31d1e
|
UTSW |
13 |
59,891,766 (GRCm39) |
missense |
probably benign |
|
|
R8395:Spata31d1e
|
UTSW |
13 |
59,889,540 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8508:Spata31d1e
|
UTSW |
13 |
59,891,412 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8930:Spata31d1e
|
UTSW |
13 |
59,890,015 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R8932:Spata31d1e
|
UTSW |
13 |
59,890,015 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9127:Spata31d1e
|
UTSW |
13 |
59,890,828 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9262:Spata31d1e
|
UTSW |
13 |
59,890,402 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9401:Spata31d1e
|
UTSW |
13 |
59,890,012 (GRCm39) |
missense |
probably benign |
0.03 |
|
R9514:Spata31d1e
|
UTSW |
13 |
59,890,806 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9786:Spata31d1e
|
UTSW |
13 |
59,890,498 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
X0024:Spata31d1e
|
UTSW |
13 |
59,890,539 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCAGCAGTTACTAGATGAGAAGC -3'
(R):5'- AAACATGGCCCCTTCCTCAG -3'
Sequencing Primer
(F):5'- GCAGAACTTGCGCTCTCATTC -3'
(R):5'- AGTCTGATCTCCCCTTATCATTAAAC -3'
|
| Posted On |
2018-03-15 |
Incidental Mutation