Incidental Mutation 'R8396:Shc4'
| ID |
647593 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shc4
|
| Ensembl Gene |
ENSMUSG00000035109 |
| Gene Name |
SHC (Src homology 2 domain containing) family, member 4 |
| Synonyms |
6230417E10Rik, 9930029B02Rik, LOC271849 |
| MMRRC Submission |
067812-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.137)
|
| Stock # |
R8396 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
2 |
| Chromosomal Location |
125469367-125566068 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 125471617 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 600
(I600T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000043146
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042246]
[ENSMUST00000089776]
[ENSMUST00000110477]
[ENSMUST00000110480]
|
| AlphaFold |
Q6S5L9 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000042246
AA Change: I600T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000043146
Gene: ENSMUSG00000035109
AA Change: I600T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
57 |
68 |
N/A |
INTRINSIC |
|
PTB
|
187 |
351 |
1.38e-34 |
SMART |
|
SH2
|
520 |
599 |
4.69e-24 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000089776
|
| SMART Domains |
Protein: ENSMUSP00000087208
Gene: ENSMUSG00000068394
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
15 |
29 |
N/A |
INTRINSIC |
|
low complexity region
|
106 |
124 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
481 |
N/A |
INTRINSIC |
|
low complexity region
|
582 |
593 |
N/A |
INTRINSIC |
|
coiled coil region
|
602 |
651 |
N/A |
INTRINSIC |
|
coiled coil region
|
692 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
780 |
793 |
N/A |
INTRINSIC |
|
coiled coil region
|
835 |
868 |
N/A |
INTRINSIC |
|
coiled coil region
|
954 |
1038 |
N/A |
INTRINSIC |
|
coiled coil region
|
1205 |
1277 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110477
AA Change: I314T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106103
Gene: ENSMUSG00000035109
AA Change: I314T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID
|
1 |
62 |
1.7e-19 |
PFAM |
|
SH2
|
234 |
313 |
4.69e-24 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110480
AA Change: I314T
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000106106
Gene: ENSMUSG00000035109
AA Change: I314T
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID
|
1 |
62 |
1.7e-19 |
PFAM |
|
SH2
|
234 |
313 |
4.69e-24 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arfgef3 |
A |
G |
10: 18,528,280 (GRCm39) |
|
probably null |
Het |
| Arid1a |
T |
C |
4: 133,479,973 (GRCm39) |
Y317C |
probably damaging |
Het |
| Asxl2 |
A |
G |
12: 3,552,220 (GRCm39) |
T1321A |
probably benign |
Het |
| Bckdk |
A |
G |
7: 127,504,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Birc2 |
A |
G |
9: 7,834,301 (GRCm39) |
V60A |
probably benign |
Het |
| Bmp8a |
T |
C |
4: 123,218,952 (GRCm39) |
H152R |
probably benign |
Het |
| C3 |
T |
C |
17: 57,528,029 (GRCm39) |
H730R |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,289,088 (GRCm39) |
V417E |
probably benign |
Het |
| Cfap58 |
T |
A |
19: 48,017,540 (GRCm39) |
M800K |
probably damaging |
Het |
| Clip1 |
A |
G |
5: 123,780,627 (GRCm39) |
L352P |
probably damaging |
Het |
| Cr2 |
A |
G |
1: 194,840,376 (GRCm39) |
L522P |
probably damaging |
Het |
| Ctcf |
T |
A |
8: 106,393,379 (GRCm39) |
H347Q |
possibly damaging |
Het |
| Gm13271 |
A |
T |
4: 88,673,318 (GRCm39) |
M72L |
probably benign |
Het |
| Gpat4 |
GTGTT |
GT |
8: 23,669,498 (GRCm39) |
|
probably benign |
Het |
| Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
| Irx5 |
G |
A |
8: 93,086,962 (GRCm39) |
G298D |
probably benign |
Het |
| Klf5 |
T |
C |
14: 99,539,670 (GRCm39) |
I361T |
possibly damaging |
Het |
| Lsm11 |
G |
A |
11: 45,835,591 (GRCm39) |
A50V |
probably benign |
Het |
| Map1b |
T |
C |
13: 99,570,621 (GRCm39) |
K700R |
unknown |
Het |
| Muc5b |
A |
T |
7: 141,405,552 (GRCm39) |
T954S |
unknown |
Het |
| Nhsl1 |
A |
G |
10: 18,400,910 (GRCm39) |
N678S |
probably benign |
Het |
| Npsr1 |
T |
A |
9: 24,221,377 (GRCm39) |
I277N |
possibly damaging |
Het |
| Ntsr2 |
A |
G |
12: 16,706,821 (GRCm39) |
H283R |
probably damaging |
Het |
| Obscn |
A |
T |
11: 58,893,829 (GRCm39) |
I6746N |
probably benign |
Het |
| Obsl1 |
T |
C |
1: 75,480,350 (GRCm39) |
T425A |
probably benign |
Het |
| Pag1 |
T |
A |
3: 9,759,112 (GRCm39) |
E335D |
probably benign |
Het |
| Parp3 |
T |
A |
9: 106,351,447 (GRCm39) |
Q223L |
probably benign |
Het |
| Pogz |
T |
C |
3: 94,786,061 (GRCm39) |
V883A |
probably benign |
Het |
| Rsbn1l |
A |
T |
5: 21,132,665 (GRCm39) |
M198K |
probably benign |
Het |
| Sh3bgr |
A |
G |
16: 96,007,680 (GRCm39) |
|
probably null |
Het |
| Slc26a1 |
T |
C |
5: 108,821,715 (GRCm39) |
H74R |
probably benign |
Het |
| Slc7a11 |
A |
C |
3: 50,338,578 (GRCm39) |
I277S |
possibly damaging |
Het |
| Tep1 |
G |
T |
14: 51,074,529 (GRCm39) |
T1832N |
probably benign |
Het |
| Terf2 |
A |
G |
8: 107,809,613 (GRCm39) |
|
probably null |
Het |
| Tle4 |
G |
A |
19: 14,432,323 (GRCm39) |
Q458* |
probably null |
Het |
| Trim34b |
A |
T |
7: 103,979,083 (GRCm39) |
D110V |
probably damaging |
Het |
| Usp9y |
A |
T |
Y: 1,308,034 (GRCm39) |
N2267K |
possibly damaging |
Het |
| Vmn2r50 |
G |
A |
7: 9,781,639 (GRCm39) |
Q369* |
probably null |
Het |
| Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
| Zfp229 |
T |
C |
17: 21,965,077 (GRCm39) |
S436P |
probably damaging |
Het |
|
| Other mutations in Shc4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02298:Shc4
|
APN |
2 |
125,491,074 (GRCm39) |
missense |
probably damaging |
0.96 |
|
IGL03003:Shc4
|
APN |
2 |
125,565,253 (GRCm39) |
nonsense |
probably null |
|
|
R0167:Shc4
|
UTSW |
2 |
125,564,933 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0784:Shc4
|
UTSW |
2 |
125,499,416 (GRCm39) |
missense |
probably benign |
0.08 |
|
R0959:Shc4
|
UTSW |
2 |
125,520,607 (GRCm39) |
critical splice donor site |
probably null |
|
|
R1099:Shc4
|
UTSW |
2 |
125,564,764 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1864:Shc4
|
UTSW |
2 |
125,481,287 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2198:Shc4
|
UTSW |
2 |
125,481,266 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R3791:Shc4
|
UTSW |
2 |
125,565,251 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4324:Shc4
|
UTSW |
2 |
125,520,670 (GRCm39) |
missense |
probably benign |
0.23 |
|
R4424:Shc4
|
UTSW |
2 |
125,494,442 (GRCm39) |
missense |
probably benign |
|
|
R4611:Shc4
|
UTSW |
2 |
125,497,602 (GRCm39) |
missense |
probably benign |
0.29 |
|
R4745:Shc4
|
UTSW |
2 |
125,491,197 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5037:Shc4
|
UTSW |
2 |
125,471,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5433:Shc4
|
UTSW |
2 |
125,481,350 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5754:Shc4
|
UTSW |
2 |
125,512,218 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7795:Shc4
|
UTSW |
2 |
125,565,285 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8058:Shc4
|
UTSW |
2 |
125,491,154 (GRCm39) |
nonsense |
probably null |
|
|
R8314:Shc4
|
UTSW |
2 |
125,497,536 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R8785:Shc4
|
UTSW |
2 |
125,491,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
R9006:Shc4
|
UTSW |
2 |
125,514,394 (GRCm39) |
unclassified |
probably benign |
|
|
R9244:Shc4
|
UTSW |
2 |
125,497,589 (GRCm39) |
nonsense |
probably null |
|
|
R9332:Shc4
|
UTSW |
2 |
125,520,618 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Shc4
|
UTSW |
2 |
125,564,843 (GRCm39) |
missense |
probably benign |
0.37 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAAAAGACCTGGTCTGTGGC -3'
(R):5'- CGCAATTGCTTACATCTTTCAGAAC -3'
Sequencing Primer
(F):5'- TCTGTGGCGGTCTAAGAAAG -3'
(R):5'- TGGAACTCACTCTGTAGACCAGG -3'
|
| Posted On |
2020-09-02 |
Incidental Mutation