Incidental Mutation 'R4605:Sh2d5'
| ID |
345964 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sh2d5
|
| Ensembl Gene |
ENSMUSG00000045349 |
| Gene Name |
SH2 domain containing 5 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R4605 (G1)
|
| Quality Score |
215 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
137977722-137988279 bp(+) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 137984566 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 187
(Y187*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000119052
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030539]
[ENSMUST00000105818]
[ENSMUST00000105823]
[ENSMUST00000105824]
[ENSMUST00000124239]
|
| AlphaFold |
Q8JZW5 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030539
|
| SMART Domains |
Protein: ENSMUSP00000030539
Gene: ENSMUSG00000028758
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
3 |
343 |
4.57e-178 |
SMART |
|
coiled coil region
|
400 |
470 |
N/A |
INTRINSIC |
|
low complexity region
|
723 |
736 |
N/A |
INTRINSIC |
|
coiled coil region
|
806 |
852 |
N/A |
INTRINSIC |
|
low complexity region
|
983 |
1000 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000105818
|
| SMART Domains |
Protein: ENSMUSP00000101444
Gene: ENSMUSG00000028758
| Domain | Start | End | E-Value | Type |
|---|
|
KISc
|
1 |
151 |
1.46e-13 |
SMART |
|
coiled coil region
|
208 |
278 |
N/A |
INTRINSIC |
|
low complexity region
|
532 |
545 |
N/A |
INTRINSIC |
|
coiled coil region
|
615 |
661 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105823
AA Change: Y261*
|
| SMART Domains |
Protein: ENSMUSP00000101449
Gene: ENSMUSG00000045349
AA Change: Y261*
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PID
|
27 |
149 |
1e-6 |
PFAM |
|
SH2
|
300 |
384 |
9.29e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000105824
AA Change: Y261*
|
| SMART Domains |
Protein: ENSMUSP00000101450
Gene: ENSMUSG00000045349
AA Change: Y261*
| Domain | Start | End | E-Value | Type |
|---|
|
SCOP:d1ddma_
|
24 |
146 |
8e-18 |
SMART |
|
Blast:PTB
|
28 |
146 |
6e-6 |
BLAST |
|
SH2
|
300 |
384 |
9.29e-2 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000124239
AA Change: Y187*
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139033
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154421
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.1%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankra2 |
A |
G |
13: 98,402,742 (GRCm39) |
|
probably benign |
Het |
| Atp9b |
T |
A |
18: 80,796,364 (GRCm39) |
|
probably null |
Het |
| Birc6 |
G |
A |
17: 74,946,929 (GRCm39) |
D2885N |
probably damaging |
Het |
| Chaf1b |
A |
T |
16: 93,684,977 (GRCm39) |
N142I |
possibly damaging |
Het |
| Ckap5 |
G |
A |
2: 91,406,559 (GRCm39) |
G787S |
probably damaging |
Het |
| Ctc1 |
G |
T |
11: 68,920,552 (GRCm39) |
C372F |
possibly damaging |
Het |
| Dip2b |
A |
G |
15: 100,107,517 (GRCm39) |
T1176A |
probably benign |
Het |
| Epha10 |
A |
G |
4: 124,779,550 (GRCm39) |
E132G |
probably damaging |
Het |
| Extl1 |
A |
G |
4: 134,087,145 (GRCm39) |
V471A |
probably benign |
Het |
| Fgd6 |
T |
C |
10: 93,880,217 (GRCm39) |
L357P |
probably benign |
Het |
| Gapvd1 |
A |
T |
2: 34,618,549 (GRCm39) |
C275S |
probably damaging |
Het |
| Kcnj2 |
G |
A |
11: 110,963,676 (GRCm39) |
C356Y |
probably damaging |
Het |
| Kcnk10 |
T |
C |
12: 98,456,219 (GRCm39) |
D204G |
probably damaging |
Het |
| Krtap9-1 |
A |
C |
11: 99,764,579 (GRCm39) |
E105A |
unknown |
Het |
| Loxhd1 |
G |
A |
18: 77,493,642 (GRCm39) |
V668I |
probably benign |
Het |
| Ly86 |
T |
C |
13: 37,558,987 (GRCm39) |
I62T |
possibly damaging |
Het |
| Maip1 |
A |
G |
1: 57,450,891 (GRCm39) |
I178V |
probably benign |
Het |
| Mical3 |
G |
A |
6: 121,011,041 (GRCm39) |
Q386* |
probably null |
Het |
| Or5an11 |
T |
C |
19: 12,246,532 (GRCm39) |
*313Q |
probably null |
Het |
| Or5b107 |
T |
A |
19: 13,142,612 (GRCm39) |
V78D |
probably damaging |
Het |
| Or5p52 |
A |
C |
7: 107,502,445 (GRCm39) |
I174L |
probably benign |
Het |
| Or8j3b |
G |
A |
2: 86,205,141 (GRCm39) |
T205I |
probably benign |
Het |
| Pcdha12 |
T |
C |
18: 37,154,576 (GRCm39) |
S432P |
probably damaging |
Het |
| Prex1 |
A |
T |
2: 166,555,464 (GRCm39) |
Y59N |
probably benign |
Het |
| Sbf1 |
A |
G |
15: 89,187,684 (GRCm39) |
F654L |
probably damaging |
Het |
| Slc9a4 |
T |
C |
1: 40,640,195 (GRCm39) |
|
probably null |
Het |
| Smyd2 |
A |
G |
1: 189,629,623 (GRCm39) |
S136P |
probably damaging |
Het |
| Spata31e2 |
T |
C |
1: 26,722,267 (GRCm39) |
K971R |
probably benign |
Het |
| Srsf11 |
A |
T |
3: 157,728,560 (GRCm39) |
L115* |
probably null |
Het |
| Tbx19 |
C |
T |
1: 164,981,153 (GRCm39) |
V114I |
possibly damaging |
Het |
| Unc5b |
A |
G |
10: 60,610,182 (GRCm39) |
V545A |
probably benign |
Het |
| Ush2a |
A |
G |
1: 188,642,998 (GRCm39) |
Y4120C |
probably damaging |
Het |
| Vps13a |
T |
C |
19: 16,617,403 (GRCm39) |
T3002A |
probably damaging |
Het |
| Zkscan2 |
A |
T |
7: 123,097,947 (GRCm39) |
W150R |
probably damaging |
Het |
|
| Other mutations in Sh2d5 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02150:Sh2d5
|
APN |
4 |
137,985,553 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02715:Sh2d5
|
APN |
4 |
137,984,018 (GRCm39) |
splice site |
probably benign |
|
|
R0621:Sh2d5
|
UTSW |
4 |
137,985,629 (GRCm39) |
missense |
probably benign |
0.12 |
|
R0622:Sh2d5
|
UTSW |
4 |
137,986,539 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R4828:Sh2d5
|
UTSW |
4 |
137,985,566 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5372:Sh2d5
|
UTSW |
4 |
137,982,010 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6053:Sh2d5
|
UTSW |
4 |
137,982,873 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R6441:Sh2d5
|
UTSW |
4 |
137,986,393 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7336:Sh2d5
|
UTSW |
4 |
137,984,150 (GRCm39) |
missense |
probably benign |
|
|
R7621:Sh2d5
|
UTSW |
4 |
137,984,150 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7642:Sh2d5
|
UTSW |
4 |
137,986,467 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7828:Sh2d5
|
UTSW |
4 |
137,984,108 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9390:Sh2d5
|
UTSW |
4 |
137,985,481 (GRCm39) |
missense |
probably benign |
|
|
R9536:Sh2d5
|
UTSW |
4 |
137,986,420 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTCTGAATCTGCCTGCCTG -3'
(R):5'- GTCACACATCTGGTCCCTCAAC -3'
Sequencing Primer
(F):5'- CTGTGGGCCCCTCTCGG -3'
(R):5'- ACAATTGCTTTGTGGTCTGCATAAG -3'
|
| Posted On |
2015-09-25 |
Incidental Mutation