Incidental Mutation 'R9787:Sugp2'
| ID |
734406 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sugp2
|
| Ensembl Gene |
ENSMUSG00000036054 |
| Gene Name |
SURP and G patch domain containing 2 |
| Synonyms |
Srsf14, Sfrs14 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.121)
|
| Stock # |
R9787 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70686838-70715755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 70695428 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 134
(K134E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093458]
[ENSMUST00000131489]
[ENSMUST00000145078]
[ENSMUST00000155771]
[ENSMUST00000164403]
|
| AlphaFold |
Q8CH09 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000093458
AA Change: K134E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054
AA Change: K134E
| 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: K134E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054
AA Change: K134E
| 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: 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 |
probably benign
Transcript: ENSMUST00000155771
AA Change: K134E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000164403
AA Change: K134E
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054
AA Change: K134E
| 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 |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.8%
- 10x: 99.3%
- 20x: 97.9%
|
| Validation Efficiency |
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4931406B18Rik |
T |
C |
7: 43,150,695 (GRCm39) |
T26A |
probably benign |
Het |
| Arhgap27 |
A |
G |
11: 103,230,048 (GRCm39) |
S239P |
possibly damaging |
Het |
| Bambi |
T |
C |
18: 3,511,515 (GRCm39) |
V112A |
possibly damaging |
Het |
| BC034090 |
T |
A |
1: 155,117,955 (GRCm39) |
E54D |
possibly damaging |
Het |
| Cdin1 |
T |
A |
2: 115,505,236 (GRCm39) |
L169Q |
probably damaging |
Het |
| Chst13 |
C |
T |
6: 90,286,074 (GRCm39) |
R296H |
probably benign |
Het |
| Clip2 |
C |
T |
5: 134,533,616 (GRCm39) |
R487Q |
probably benign |
Het |
| Ctbs |
T |
A |
3: 146,160,109 (GRCm39) |
V46E |
probably damaging |
Het |
| Cyp2b9 |
A |
G |
7: 25,900,259 (GRCm39) |
I356V |
probably benign |
Het |
| Dot1l |
A |
G |
10: 80,600,472 (GRCm39) |
T40A |
probably benign |
Het |
| Dst |
C |
T |
1: 34,219,524 (GRCm39) |
T1988M |
probably benign |
Het |
| Fam184a |
T |
A |
10: 53,626,864 (GRCm39) |
D38V |
possibly damaging |
Het |
| Fank1 |
T |
A |
7: 133,463,887 (GRCm39) |
F83I |
probably damaging |
Het |
| Fto |
T |
A |
8: 92,211,886 (GRCm39) |
W404R |
probably damaging |
Het |
| Gabra4 |
T |
A |
5: 71,791,004 (GRCm39) |
R279S |
possibly damaging |
Het |
| Garem2 |
C |
T |
5: 30,319,219 (GRCm39) |
P227L |
probably damaging |
Het |
| Gfra4 |
C |
A |
2: 130,884,600 (GRCm39) |
M1I |
probably null |
Het |
| Gin1 |
T |
A |
1: 97,703,211 (GRCm39) |
H11Q |
probably damaging |
Het |
| Gli3 |
G |
A |
13: 15,900,386 (GRCm39) |
G1258R |
probably damaging |
Het |
| Gsx1 |
T |
C |
5: 147,126,677 (GRCm39) |
S167P |
probably damaging |
Het |
| Gtf2b |
AATCATC |
AATC |
3: 142,477,178 (GRCm39) |
|
probably benign |
Het |
| Il7 |
G |
A |
3: 7,641,171 (GRCm39) |
R82C |
probably damaging |
Het |
| Lair1 |
A |
T |
7: 4,013,794 (GRCm39) |
V151E |
probably damaging |
Het |
| Lpar1 |
T |
C |
4: 58,437,349 (GRCm39) |
D360G |
probably benign |
Het |
| Malrd1 |
T |
A |
2: 15,625,401 (GRCm39) |
N345K |
unknown |
Het |
| Mbnl1 |
T |
A |
3: 60,503,086 (GRCm39) |
N82K |
probably damaging |
Het |
| Mtdh |
C |
A |
15: 34,123,844 (GRCm39) |
T357N |
probably benign |
Het |
| Muc6 |
T |
A |
7: 141,227,748 (GRCm39) |
K1306* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,461,518 (GRCm39) |
C2685S |
probably benign |
Het |
| Optn |
T |
A |
2: 5,036,150 (GRCm39) |
Q444L |
probably damaging |
Het |
| Or6a2 |
A |
T |
7: 106,600,899 (GRCm39) |
L56H |
probably damaging |
Het |
| Pan2 |
T |
A |
10: 128,144,223 (GRCm39) |
D157E |
probably benign |
Het |
| Pole |
G |
A |
5: 110,465,866 (GRCm39) |
|
probably null |
Het |
| Stau2 |
A |
T |
1: 16,530,595 (GRCm39) |
I108N |
unknown |
Het |
| Tcaf3 |
C |
T |
6: 42,574,024 (GRCm39) |
V63I |
probably benign |
Het |
| Tcf7 |
T |
A |
11: 52,173,773 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Tubb2b |
T |
C |
13: 34,312,409 (GRCm39) |
D128G |
probably benign |
Het |
| Umodl1 |
A |
T |
17: 31,178,324 (GRCm39) |
Q100L |
probably damaging |
Het |
| Unc79 |
T |
A |
12: 103,112,620 (GRCm39) |
N2230K |
probably benign |
Het |
| Zc3hav1l |
T |
C |
6: 38,272,101 (GRCm39) |
T223A |
probably benign |
Het |
| Zfhx4 |
G |
A |
3: 5,455,506 (GRCm39) |
D1167N |
possibly damaging |
Het |
| Zfp36 |
A |
T |
7: 28,077,344 (GRCm39) |
L200Q |
probably damaging |
Het |
| Zswim9 |
T |
A |
7: 12,994,205 (GRCm39) |
L650F |
probably damaging |
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 |
|
|
R6615:Sugp2
|
UTSW |
8 |
70,695,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGTGATAGCAGGTACTCCG -3'
(R):5'- CCCACTGCTTCTAGACACAGAG -3'
Sequencing Primer
(F):5'- ATAGCAGGTACTCCGCCAGTG -3'
(R):5'- AGAGTCCACCTCCCCAGGATG -3'
|
| Posted On |
2022-11-14 |
Incidental Mutation