Incidental Mutation 'R4447:Spata31d1e'
| ID |
328811 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Spata31d1e
|
| Ensembl Gene |
ENSMUSG00000051054 |
| Gene Name |
spermatogenesis associated 31 subfamily D, member 1E |
| Synonyms |
1700014D04Rik |
| MMRRC Submission |
041708-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
R4447 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
59888656-59894566 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 59890012 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 603
(T603A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136424
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000055343]
[ENSMUST00000178508]
[ENSMUST00000180139]
|
| AlphaFold |
J3QMS2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000055343
AA Change: T185A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000052403
Gene: ENSMUSG00000051054
AA Change: T185A
| 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: T603A
PolyPhen 2
Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000136424
Gene: ENSMUSG00000051054
AA Change: T603A
| 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
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
100% (32/32) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 3930402G23Rik |
T |
A |
8: 10,976,129 (GRCm39) |
|
noncoding transcript |
Het |
| Acsf2 |
G |
T |
11: 94,460,185 (GRCm39) |
P389Q |
possibly damaging |
Het |
| Aldh6a1 |
A |
G |
12: 84,486,483 (GRCm39) |
V120A |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Ankar |
A |
G |
1: 72,726,948 (GRCm39) |
S415P |
possibly damaging |
Het |
| Ano3 |
A |
T |
2: 110,591,923 (GRCm39) |
|
probably null |
Het |
| Asic4 |
A |
T |
1: 75,447,014 (GRCm39) |
|
probably benign |
Het |
| Atp1a4 |
A |
C |
1: 172,061,998 (GRCm39) |
I709S |
probably damaging |
Het |
| Cyp11b2 |
T |
C |
15: 74,727,412 (GRCm39) |
I90V |
probably benign |
Het |
| Galnt2 |
A |
G |
8: 125,022,116 (GRCm39) |
D14G |
probably benign |
Het |
| Iqcm |
T |
C |
8: 76,356,394 (GRCm39) |
S176P |
probably damaging |
Het |
| Irf5 |
T |
A |
6: 29,535,941 (GRCm39) |
D318E |
probably damaging |
Het |
| Map2k3 |
A |
T |
11: 60,837,997 (GRCm39) |
S253C |
probably damaging |
Het |
| Mgst1 |
G |
T |
6: 138,118,662 (GRCm39) |
|
probably benign |
Het |
| Mipol1 |
G |
T |
12: 57,399,534 (GRCm39) |
|
probably benign |
Het |
| Niban1 |
A |
T |
1: 151,512,153 (GRCm39) |
|
probably null |
Het |
| Or7c19 |
T |
A |
8: 85,957,995 (GRCm39) |
Y290* |
probably null |
Het |
| Pomgnt1 |
G |
T |
4: 116,010,120 (GRCm39) |
V161L |
possibly damaging |
Het |
| Rnpc3 |
T |
C |
3: 113,404,786 (GRCm39) |
|
probably benign |
Het |
| Rxfp1 |
C |
T |
3: 79,559,434 (GRCm39) |
|
probably benign |
Het |
| Scn5a |
T |
C |
9: 119,379,693 (GRCm39) |
D197G |
probably damaging |
Het |
| Thsd7a |
G |
A |
6: 12,324,634 (GRCm39) |
T1479I |
probably damaging |
Het |
| Twsg1 |
C |
T |
17: 66,236,782 (GRCm39) |
D83N |
possibly damaging |
Het |
| Ubqln3 |
C |
T |
7: 103,792,021 (GRCm39) |
R23Q |
probably benign |
Het |
| Vmn1r228 |
T |
C |
17: 20,997,369 (GRCm39) |
I50V |
probably damaging |
Het |
| Wnk4 |
T |
A |
11: 101,159,277 (GRCm39) |
S565T |
possibly damaging |
Het |
| Wwc2 |
A |
G |
8: 48,321,702 (GRCm39) |
Y471H |
unknown |
Het |
| Zfp407 |
A |
T |
18: 84,580,819 (GRCm39) |
V98D |
possibly damaging |
Het |
| Zfp598 |
T |
A |
17: 24,895,529 (GRCm39) |
V73E |
probably damaging |
Het |
| Zscan29 |
T |
A |
2: 121,000,367 (GRCm39) |
|
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 |
|
|
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 |
|
R6266:Spata31d1e
|
UTSW |
13 |
59,890,126 (GRCm39) |
missense |
probably benign |
0.33 |
|
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'- TTATAGAATCAGACCCTGACCGAAC -3'
(R):5'- AAGCTCCGACCTTCTCCATG -3'
Sequencing Primer
(F):5'- AAACAGCTCCCTGGCCTTGAG -3'
(R):5'- GGAGACAAGATAGAAACCACAGACTC -3'
|
| Posted On |
2015-07-21 |
Incidental Mutation