Incidental Mutation 'R4116:Sf3a2'
| ID |
314647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf3a2
|
| Ensembl Gene |
ENSMUSG00000020211 |
| Gene Name |
splicing factor 3a, subunit 2 |
| Synonyms |
PRP11, 66kDa, Sap62, SFA66 |
| MMRRC Submission |
040859-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R4116 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80634569-80640756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 80637175 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 37
(T37A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036016]
[ENSMUST00000036805]
[ENSMUST00000147440]
[ENSMUST00000148665]
[ENSMUST00000151928]
[ENSMUST00000219959]
[ENSMUST00000219378]
[ENSMUST00000218209]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036016
|
| SMART Domains |
Protein: ENSMUSP00000043153
Gene: ENSMUSG00000035262
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
|
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
|
Pfam:AMH_N
|
75 |
439 |
3e-133 |
PFAM |
|
TGFB
|
456 |
554 |
8.57e-36 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000036805
|
| SMART Domains |
Protein: ENSMUSP00000042334
Gene: ENSMUSG00000035278
| Domain | Start | End | E-Value | Type |
|---|
|
PH
|
16 |
110 |
1.48e-7 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139461
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000147440
AA Change: T37A
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000116478
Gene: ENSMUSG00000020211
AA Change: T37A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
|
Blast:CactinC_cactus
|
41 |
67 |
1e-9 |
BLAST |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000148665
AA Change: T37A
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211
AA Change: T37A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
|
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
|
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
|
CactinC_cactus
|
91 |
219 |
8.29e-35 |
SMART |
|
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
|
low complexity region
|
320 |
420 |
N/A |
INTRINSIC |
|
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
|
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000151928
AA Change: T37A
PolyPhen 2
Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211
AA Change: T37A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
|
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
|
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
|
CactinC_cactus
|
91 |
194 |
1.26e-4 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217735
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218036
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219767
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220002
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219959
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000219378
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000218209
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 10x: 97.6%
- 20x: 96.3%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc10 |
A |
T |
17: 46,634,817 (GRCm39) |
F395L |
possibly damaging |
Het |
| Amigo1 |
C |
T |
3: 108,095,761 (GRCm39) |
T420I |
probably damaging |
Het |
| Ankrd34c |
A |
G |
9: 89,611,927 (GRCm39) |
L138P |
probably damaging |
Het |
| Cald1 |
C |
T |
6: 34,722,654 (GRCm39) |
R107C |
probably damaging |
Het |
| Cast |
C |
T |
13: 74,872,956 (GRCm39) |
E444K |
probably damaging |
Het |
| Ccdc121rt2 |
A |
G |
5: 112,598,377 (GRCm39) |
E308G |
probably damaging |
Het |
| Crybg1 |
T |
G |
10: 43,875,158 (GRCm39) |
N650T |
possibly damaging |
Het |
| Cyp19a1 |
T |
A |
9: 54,076,025 (GRCm39) |
R276S |
possibly damaging |
Het |
| Cyp2c66 |
A |
G |
19: 39,165,003 (GRCm39) |
D328G |
possibly damaging |
Het |
| Hectd1 |
A |
T |
12: 51,815,506 (GRCm39) |
L1527* |
probably null |
Het |
| Hoxd13 |
C |
A |
2: 74,498,832 (GRCm39) |
A60E |
possibly damaging |
Het |
| Igkv3-7 |
G |
T |
6: 70,584,923 (GRCm39) |
G88C |
probably damaging |
Het |
| Kcnk12 |
GGCATCGC |
GGCATCGCATCGC |
17: 88,053,584 (GRCm39) |
|
probably null |
Het |
| Klhl30 |
C |
A |
1: 91,281,830 (GRCm39) |
Q144K |
probably benign |
Het |
| Kprp |
A |
T |
3: 92,731,275 (GRCm39) |
S592T |
probably damaging |
Het |
| Man2c1 |
T |
C |
9: 57,047,589 (GRCm39) |
|
probably null |
Het |
| Mbtps1 |
A |
T |
8: 120,268,391 (GRCm39) |
M260K |
probably benign |
Het |
| Morc3 |
G |
A |
16: 93,670,227 (GRCm39) |
D801N |
probably benign |
Het |
| Mpped1 |
A |
G |
15: 83,680,910 (GRCm39) |
|
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,673,476 (GRCm39) |
T767A |
probably benign |
Het |
| Nek5 |
G |
A |
8: 22,601,178 (GRCm39) |
T181M |
probably damaging |
Het |
| Nomo1 |
T |
C |
7: 45,683,320 (GRCm39) |
I22T |
probably benign |
Het |
| Or7g27 |
T |
G |
9: 19,249,940 (GRCm39) |
F61L |
probably benign |
Het |
| Plin4 |
A |
G |
17: 56,409,113 (GRCm39) |
V1369A |
probably benign |
Het |
| Polr3c |
A |
T |
3: 96,622,560 (GRCm39) |
F365Y |
probably damaging |
Het |
| Sec22a |
A |
G |
16: 35,139,202 (GRCm39) |
F232S |
probably damaging |
Het |
| Sema4f |
G |
A |
6: 82,894,887 (GRCm39) |
T436M |
probably benign |
Het |
| Slc1a6 |
A |
G |
10: 78,623,723 (GRCm39) |
M41V |
probably benign |
Het |
| Sptbn4 |
C |
T |
7: 27,090,995 (GRCm39) |
E1399K |
probably damaging |
Het |
| Sspo |
T |
C |
6: 48,433,928 (GRCm39) |
L911P |
probably damaging |
Het |
| Sult2a2 |
A |
T |
7: 13,468,708 (GRCm39) |
Q58L |
probably benign |
Het |
| Syne2 |
A |
T |
12: 75,977,853 (GRCm39) |
I1433F |
probably damaging |
Het |
| Synm |
C |
T |
7: 67,384,405 (GRCm39) |
V644I |
possibly damaging |
Het |
| Tbc1d5 |
A |
G |
17: 51,227,615 (GRCm39) |
L210P |
probably damaging |
Het |
| Trak1 |
T |
C |
9: 121,277,909 (GRCm39) |
Y229H |
probably damaging |
Het |
| Unc5b |
G |
T |
10: 60,610,479 (GRCm39) |
T446K |
probably damaging |
Het |
| Wdr95 |
C |
A |
5: 149,521,040 (GRCm39) |
D604E |
probably benign |
Het |
| Zfp773 |
AGCTGCTGCTGCTGCTGCTGCTGCTGC |
AGCTGCTGCTGCTGCTGCTGCTGC |
7: 7,136,092 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Sf3a2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01717:Sf3a2
|
APN |
10 |
80,640,526 (GRCm39) |
nonsense |
probably null |
|
|
IGL02997:Sf3a2
|
APN |
10 |
80,639,454 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0470:Sf3a2
|
UTSW |
10 |
80,640,388 (GRCm39) |
unclassified |
probably benign |
|
|
R1436:Sf3a2
|
UTSW |
10 |
80,640,040 (GRCm39) |
unclassified |
probably benign |
|
|
R1437:Sf3a2
|
UTSW |
10 |
80,640,040 (GRCm39) |
unclassified |
probably benign |
|
|
R2233:Sf3a2
|
UTSW |
10 |
80,638,663 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2234:Sf3a2
|
UTSW |
10 |
80,638,663 (GRCm39) |
missense |
probably benign |
0.05 |
|
R3871:Sf3a2
|
UTSW |
10 |
80,640,527 (GRCm39) |
unclassified |
probably benign |
|
|
R4659:Sf3a2
|
UTSW |
10 |
80,639,418 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4946:Sf3a2
|
UTSW |
10 |
80,639,947 (GRCm39) |
unclassified |
probably benign |
|
|
R5081:Sf3a2
|
UTSW |
10 |
80,640,275 (GRCm39) |
unclassified |
probably benign |
|
|
R5618:Sf3a2
|
UTSW |
10 |
80,640,410 (GRCm39) |
unclassified |
probably benign |
|
|
R6039:Sf3a2
|
UTSW |
10 |
80,637,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6039:Sf3a2
|
UTSW |
10 |
80,637,297 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7925:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
|
R7930:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
|
R8118:Sf3a2
|
UTSW |
10 |
80,639,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8170:Sf3a2
|
UTSW |
10 |
80,639,131 (GRCm39) |
splice site |
probably null |
|
|
R8757:Sf3a2
|
UTSW |
10 |
80,640,138 (GRCm39) |
missense |
unknown |
|
|
R8785:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
|
R8874:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
|
R9111:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
|
R9292:Sf3a2
|
UTSW |
10 |
80,640,560 (GRCm39) |
missense |
unknown |
|
|
R9575:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
|
R9663:Sf3a2
|
UTSW |
10 |
80,637,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCGTCCTAGCATCATGTACAG -3'
(R):5'- AAAGCAGGGGCAGATACCTC -3'
Sequencing Primer
(F):5'- CCTAGCATCATGTACAGTGTTCTGAG -3'
(R):5'- GGCAGATACCTCATTGTTATGCAGAG -3'
|
| Posted On |
2015-05-14 |
Incidental Mutation