Incidental Mutation 'R6615:Sugp2'
| ID |
523957 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sugp2
|
| Ensembl Gene |
ENSMUSG00000036054 |
| Gene Name |
SURP and G patch domain containing 2 |
| Synonyms |
Srsf14, Sfrs14 |
| MMRRC Submission |
044738-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R6615 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
70686838-70715755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70695420 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 131
(Q131R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120271
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093458]
[ENSMUST00000131489]
[ENSMUST00000145078]
[ENSMUST00000155771]
[ENSMUST00000164403]
|
| AlphaFold |
Q8CH09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093458
AA Change: Q131R
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054
AA Change: Q131R
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000131489
AA Change: Q131R
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054
AA Change: Q131R
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145078
|
| SMART Domains |
Protein: ENSMUSP00000114403
Gene: ENSMUSG00000036054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000155771
AA Change: Q131R
PolyPhen 2
Score 0.917 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156330
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164403
AA Change: Q131R
PolyPhen 2
Score 0.021 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054
AA Change: Q131R
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Meta Mutation Damage Score |
0.0595 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.4%
|
| Validation Efficiency |
100% (51/51) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Avl9 |
T |
C |
6: 56,730,870 (GRCm39) |
V598A |
probably benign |
Het |
| Bcar3 |
T |
A |
3: 122,220,282 (GRCm39) |
S60T |
probably benign |
Het |
| Bean1 |
CT |
C |
8: 104,908,664 (GRCm39) |
|
probably null |
Homo |
| Calm3 |
A |
G |
7: 16,651,508 (GRCm39) |
|
probably null |
Het |
| Ccdc113 |
A |
C |
8: 96,272,620 (GRCm39) |
E242D |
probably benign |
Het |
| Celsr1 |
C |
T |
15: 85,786,315 (GRCm39) |
|
probably null |
Het |
| Clhc1 |
T |
A |
11: 29,528,149 (GRCm39) |
M559K |
possibly damaging |
Het |
| Dhx36 |
T |
A |
3: 62,396,338 (GRCm39) |
I440L |
probably benign |
Het |
| Dnah7c |
A |
T |
1: 46,554,599 (GRCm39) |
T445S |
probably benign |
Het |
| Dnah7c |
A |
G |
1: 46,688,511 (GRCm39) |
S1894G |
probably benign |
Het |
| Dnah7c |
C |
A |
1: 46,688,500 (GRCm39) |
T1890K |
probably benign |
Het |
| Dsc2 |
T |
A |
18: 20,165,576 (GRCm39) |
H843L |
possibly damaging |
Het |
| F11 |
T |
C |
8: 45,701,811 (GRCm39) |
Y333C |
probably benign |
Het |
| Fbxo41 |
T |
C |
6: 85,455,505 (GRCm39) |
T560A |
possibly damaging |
Het |
| Fbxo7 |
A |
T |
10: 85,880,398 (GRCm39) |
H282L |
possibly damaging |
Het |
| Gmnc |
T |
G |
16: 26,779,278 (GRCm39) |
D243A |
probably benign |
Het |
| Hdac5 |
C |
A |
11: 102,087,882 (GRCm39) |
|
probably null |
Het |
| Krt87 |
A |
G |
15: 101,334,443 (GRCm39) |
V188A |
probably benign |
Het |
| Lpxn |
G |
A |
19: 12,802,163 (GRCm39) |
V163M |
probably benign |
Het |
| Lrrk1 |
A |
T |
7: 65,931,396 (GRCm39) |
L55Q |
probably damaging |
Het |
| Ltbp2 |
C |
T |
12: 84,860,091 (GRCm39) |
C621Y |
probably damaging |
Het |
| Marchf8 |
A |
G |
6: 116,382,624 (GRCm39) |
E147G |
probably damaging |
Het |
| Muc16 |
T |
G |
9: 18,558,484 (GRCm39) |
H2603P |
unknown |
Het |
| Nipa1 |
T |
A |
7: 55,629,571 (GRCm39) |
N181Y |
probably damaging |
Het |
| Nt5el |
T |
A |
13: 105,248,993 (GRCm39) |
N402K |
probably damaging |
Het |
| Or14c45 |
A |
G |
7: 86,176,120 (GRCm39) |
T52A |
probably benign |
Het |
| Or2h2c |
G |
A |
17: 37,422,494 (GRCm39) |
P127S |
probably damaging |
Het |
| Or4k37 |
A |
G |
2: 111,159,457 (GRCm39) |
D231G |
probably benign |
Het |
| Or51f23c-ps1 |
T |
C |
7: 102,430,994 (GRCm39) |
F104L |
probably damaging |
Het |
| Or7g35 |
A |
G |
9: 19,496,285 (GRCm39) |
I151V |
probably benign |
Het |
| Pcf11 |
T |
A |
7: 92,307,090 (GRCm39) |
Q1026L |
probably damaging |
Het |
| Ptch1 |
T |
G |
13: 63,687,644 (GRCm39) |
K378T |
possibly damaging |
Het |
| Ptprm |
C |
T |
17: 67,660,951 (GRCm39) |
|
probably null |
Het |
| Pxmp2 |
C |
A |
5: 110,425,573 (GRCm39) |
W154L |
possibly damaging |
Het |
| Rdh7 |
T |
G |
10: 127,720,491 (GRCm39) |
S294R |
probably damaging |
Het |
| Rexo1 |
C |
T |
10: 80,379,848 (GRCm39) |
R994Q |
possibly damaging |
Het |
| Sacs |
A |
G |
14: 61,446,383 (GRCm39) |
T2810A |
probably benign |
Het |
| Serpina3c |
A |
T |
12: 104,117,980 (GRCm39) |
H119Q |
possibly damaging |
Het |
| Slc12a2 |
T |
G |
18: 58,031,200 (GRCm39) |
I335R |
probably damaging |
Het |
| Slc25a13 |
C |
T |
6: 6,073,454 (GRCm39) |
R468Q |
probably damaging |
Het |
| Slc5a6 |
C |
T |
5: 31,194,174 (GRCm39) |
V628I |
probably benign |
Het |
| Srsf2 |
T |
C |
11: 116,743,905 (GRCm39) |
|
probably null |
Het |
| Syne1 |
T |
C |
10: 5,251,340 (GRCm39) |
R2525G |
probably damaging |
Het |
| Tars3 |
T |
C |
7: 65,327,890 (GRCm39) |
F533S |
probably damaging |
Het |
| Tmem8b |
G |
T |
4: 43,682,249 (GRCm39) |
G82W |
probably damaging |
Het |
| Unc13c |
A |
G |
9: 73,837,890 (GRCm39) |
I987T |
possibly damaging |
Het |
| Usp44 |
T |
C |
10: 93,682,351 (GRCm39) |
V267A |
possibly damaging |
Het |
| Wac |
C |
A |
18: 7,868,884 (GRCm39) |
|
probably null |
Het |
| Xkr5 |
T |
C |
8: 18,983,569 (GRCm39) |
I658V |
probably benign |
Het |
| Zbtb38 |
A |
T |
9: 96,568,707 (GRCm39) |
Y792* |
probably null |
Het |
|
| Other mutations in Sugp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Sugp2
|
APN |
8 |
70,695,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01126:Sugp2
|
APN |
8 |
70,704,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01154:Sugp2
|
APN |
8 |
70,695,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Sugp2
|
APN |
8 |
70,712,324 (GRCm39) |
splice site |
probably benign |
|
|
IGL02401:Sugp2
|
APN |
8 |
70,695,821 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02738:Sugp2
|
APN |
8 |
70,696,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Sugp2
|
APN |
8 |
70,695,837 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4687001:Sugp2
|
UTSW |
8 |
70,710,162 (GRCm39) |
missense |
probably damaging |
0.96 |
|
PIT4791001:Sugp2
|
UTSW |
8 |
70,713,195 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Sugp2
|
UTSW |
8 |
70,711,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Sugp2
|
UTSW |
8 |
70,696,714 (GRCm39) |
splice site |
probably benign |
|
|
R1687:Sugp2
|
UTSW |
8 |
70,695,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Sugp2
|
UTSW |
8 |
70,689,360 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1914:Sugp2
|
UTSW |
8 |
70,706,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1915:Sugp2
|
UTSW |
8 |
70,706,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2004:Sugp2
|
UTSW |
8 |
70,695,306 (GRCm39) |
splice site |
probably null |
|
|
R2012:Sugp2
|
UTSW |
8 |
70,695,861 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4584:Sugp2
|
UTSW |
8 |
70,704,548 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4791:Sugp2
|
UTSW |
8 |
70,695,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Sugp2
|
UTSW |
8 |
70,712,462 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5101:Sugp2
|
UTSW |
8 |
70,713,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Sugp2
|
UTSW |
8 |
70,695,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5279:Sugp2
|
UTSW |
8 |
70,709,757 (GRCm39) |
intron |
probably benign |
|
|
R5303:Sugp2
|
UTSW |
8 |
70,694,827 (GRCm39) |
intron |
probably benign |
|
|
R5966:Sugp2
|
UTSW |
8 |
70,704,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5988:Sugp2
|
UTSW |
8 |
70,695,875 (GRCm39) |
missense |
probably benign |
|
|
R7382:Sugp2
|
UTSW |
8 |
70,695,494 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7803:Sugp2
|
UTSW |
8 |
70,704,722 (GRCm39) |
missense |
probably benign |
|
|
R7908:Sugp2
|
UTSW |
8 |
70,704,577 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8013:Sugp2
|
UTSW |
8 |
70,704,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8350:Sugp2
|
UTSW |
8 |
70,695,641 (GRCm39) |
nonsense |
probably null |
|
|
R9716:Sugp2
|
UTSW |
8 |
70,712,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:Sugp2
|
UTSW |
8 |
70,695,428 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGATAGCAGGTACTCCG -3'
(R):5'- CCAGGATGGTCCAGGTCATAATC -3'
Sequencing Primer
(F):5'- ATAGCAGGTACTCCGCCAGTG -3'
(R):5'- GATGGTCCAGGTCATAATCCCGAC -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation