Incidental Mutation 'R1083:Srrm3'
| ID |
84914 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srrm3
|
| Ensembl Gene |
ENSMUSG00000039860 |
| Gene Name |
serine/arginine repetitive matrix 3 |
| Synonyms |
Srrm2l, 2900083I11Rik, SRm300-like |
| MMRRC Submission |
039169-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.283)
|
| Stock # |
R1083 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
135835744-135903626 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 135883263 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 206
(V206E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000115695
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000013615]
[ENSMUST00000126232]
[ENSMUST00000144211]
|
| AlphaFold |
Q80WV7 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000013615
AA Change: V206E
PolyPhen 2
Score 0.787 (Sensitivity: 0.85; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000013615
Gene: ENSMUSG00000039860
AA Change: V206E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
cwf21
|
55 |
100 |
8.92e-17 |
SMART |
|
low complexity region
|
160 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
317 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126232
|
| SMART Domains |
Protein: ENSMUSP00000122821
Gene: ENSMUSG00000039860
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
cwf21
|
55 |
100 |
8.92e-17 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135615
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000144211
AA Change: V206E
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000115695
Gene: ENSMUSG00000039860
AA Change: V206E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
34 |
43 |
N/A |
INTRINSIC |
|
cwf21
|
55 |
100 |
8.92e-17 |
SMART |
|
internal_repeat_1
|
122 |
142 |
4.3e-6 |
PROSPERO |
|
low complexity region
|
160 |
186 |
N/A |
INTRINSIC |
|
low complexity region
|
200 |
242 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
276 |
N/A |
INTRINSIC |
|
low complexity region
|
286 |
317 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
325 |
345 |
4.3e-6 |
PROSPERO |
|
low complexity region
|
362 |
442 |
N/A |
INTRINSIC |
|
low complexity region
|
451 |
478 |
N/A |
INTRINSIC |
|
low complexity region
|
493 |
508 |
N/A |
INTRINSIC |
|
Pfam:SRRM_C
|
520 |
584 |
1.9e-28 |
PFAM |
|
| Meta Mutation Damage Score |
0.0656 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 94.0%
|
| Validation Efficiency |
100% (38/38) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A730049H05Rik |
T |
C |
6: 92,805,046 (GRCm39) |
|
probably benign |
Het |
| Adamts17 |
G |
A |
7: 66,797,322 (GRCm39) |
C986Y |
probably damaging |
Het |
| AI987944 |
A |
G |
7: 41,024,763 (GRCm39) |
V75A |
probably benign |
Het |
| Arhgap10 |
T |
C |
8: 78,244,378 (GRCm39) |
Y12C |
probably damaging |
Het |
| Atp11b |
G |
A |
3: 35,832,162 (GRCm39) |
|
probably benign |
Het |
| Ccer1 |
T |
A |
10: 97,530,520 (GRCm39) |
D394E |
possibly damaging |
Het |
| Cdh2 |
T |
C |
18: 16,777,016 (GRCm39) |
N273S |
possibly damaging |
Het |
| Cfap65 |
G |
T |
1: 74,957,663 (GRCm39) |
|
probably benign |
Het |
| Crybb3 |
A |
T |
5: 113,228,444 (GRCm39) |
|
probably benign |
Het |
| D7Ertd443e |
G |
A |
7: 133,950,663 (GRCm39) |
Q337* |
probably null |
Het |
| Dixdc1 |
C |
T |
9: 50,588,293 (GRCm39) |
|
probably benign |
Het |
| Dut |
GCGGC |
GCGGCCGGC |
2: 125,089,748 (GRCm39) |
|
probably null |
Het |
| Fbxo2 |
A |
G |
4: 148,250,234 (GRCm39) |
|
probably null |
Het |
| Gm5174 |
T |
C |
10: 86,491,972 (GRCm39) |
|
noncoding transcript |
Het |
| Gpam |
A |
G |
19: 55,076,643 (GRCm39) |
|
probably benign |
Het |
| Il12a |
C |
T |
3: 68,602,666 (GRCm39) |
T112M |
probably damaging |
Het |
| Itpr1 |
T |
A |
6: 108,487,657 (GRCm39) |
V2361D |
possibly damaging |
Het |
| Jag1 |
G |
A |
2: 136,938,152 (GRCm39) |
L283F |
probably damaging |
Het |
| Lamb2 |
A |
C |
9: 108,360,892 (GRCm39) |
D538A |
probably benign |
Het |
| Map10 |
T |
A |
8: 126,397,178 (GRCm39) |
C190* |
probably null |
Het |
| Pcnx2 |
C |
T |
8: 126,498,843 (GRCm39) |
R1552H |
probably damaging |
Het |
| Phf1 |
T |
C |
17: 27,156,244 (GRCm39) |
|
probably benign |
Het |
| Pitx2 |
A |
G |
3: 129,012,418 (GRCm39) |
T276A |
probably damaging |
Het |
| Pparg |
A |
G |
6: 115,467,107 (GRCm39) |
D490G |
probably damaging |
Het |
| Rnf10 |
A |
T |
5: 115,398,163 (GRCm39) |
|
probably benign |
Het |
| Sbp |
T |
C |
17: 24,161,704 (GRCm39) |
|
probably benign |
Het |
| Setbp1 |
A |
T |
18: 78,900,841 (GRCm39) |
L942H |
probably damaging |
Het |
| Sf3b1 |
C |
G |
1: 55,058,554 (GRCm39) |
E12Q |
possibly damaging |
Het |
| Sfmbt1 |
A |
T |
14: 30,509,498 (GRCm39) |
N326Y |
possibly damaging |
Het |
| Slx4 |
G |
A |
16: 3,808,774 (GRCm39) |
Q389* |
probably null |
Het |
| Sspo |
T |
A |
6: 48,447,933 (GRCm39) |
D2270E |
possibly damaging |
Het |
| Sulf1 |
AAGGGA |
AAGGGAGGGA |
1: 12,906,388 (GRCm39) |
|
probably null |
Het |
| Vmn1r14 |
T |
A |
6: 57,211,184 (GRCm39) |
I210N |
probably damaging |
Het |
| Wasf3 |
T |
G |
5: 146,372,182 (GRCm39) |
L13R |
probably damaging |
Het |
| Yes1 |
T |
C |
5: 32,809,101 (GRCm39) |
|
probably null |
Het |
| Zfp292 |
T |
C |
4: 34,807,569 (GRCm39) |
D1830G |
probably damaging |
Het |
| Zfp541 |
A |
G |
7: 15,812,637 (GRCm39) |
N430S |
probably benign |
Het |
|
| Other mutations in Srrm3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02479:Srrm3
|
APN |
5 |
135,864,103 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02716:Srrm3
|
APN |
5 |
135,883,287 (GRCm39) |
splice site |
probably null |
|
|
IGL03099:Srrm3
|
APN |
5 |
135,898,152 (GRCm39) |
splice site |
probably benign |
|
|
P0047:Srrm3
|
UTSW |
5 |
135,881,780 (GRCm39) |
splice site |
probably null |
|
|
R0688:Srrm3
|
UTSW |
5 |
135,898,130 (GRCm39) |
utr 3 prime |
probably benign |
|
|
R0811:Srrm3
|
UTSW |
5 |
135,902,136 (GRCm39) |
unclassified |
probably benign |
|
|
R0812:Srrm3
|
UTSW |
5 |
135,902,136 (GRCm39) |
unclassified |
probably benign |
|
|
R1161:Srrm3
|
UTSW |
5 |
135,883,246 (GRCm39) |
small deletion |
probably benign |
|
|
R1656:Srrm3
|
UTSW |
5 |
135,863,892 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1694:Srrm3
|
UTSW |
5 |
135,902,079 (GRCm39) |
unclassified |
probably benign |
|
|
R1803:Srrm3
|
UTSW |
5 |
135,885,983 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2037:Srrm3
|
UTSW |
5 |
135,883,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2436:Srrm3
|
UTSW |
5 |
135,864,030 (GRCm39) |
nonsense |
probably null |
|
|
R3826:Srrm3
|
UTSW |
5 |
135,886,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3829:Srrm3
|
UTSW |
5 |
135,886,068 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4840:Srrm3
|
UTSW |
5 |
135,883,449 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R6526:Srrm3
|
UTSW |
5 |
135,864,088 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6843:Srrm3
|
UTSW |
5 |
135,881,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7408:Srrm3
|
UTSW |
5 |
135,881,060 (GRCm39) |
missense |
probably benign |
0.04 |
|
R7583:Srrm3
|
UTSW |
5 |
135,881,135 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8096:Srrm3
|
UTSW |
5 |
135,898,094 (GRCm39) |
missense |
unknown |
|
|
R9294:Srrm3
|
UTSW |
5 |
135,897,115 (GRCm39) |
missense |
unknown |
|
|
R9605:Srrm3
|
UTSW |
5 |
135,881,105 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTGCCAGTCTGACCCATAAGCTCC -3'
(R):5'- AGCACAGCTCACCTGTATCGTCTC -3'
Sequencing Primer
(F):5'- CCAGGTCATTCTATCCAAGGG -3'
(R):5'- TCTTCCTCCGGGACCCAG -3'
|
| Posted On |
2013-11-18 |
Incidental Mutation