Incidental Mutation 'R5709:Shb'
| ID |
452125 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Shb
|
| Ensembl Gene |
ENSMUSG00000044813 |
| Gene Name |
src homology 2 domain-containing transforming protein B |
| Synonyms |
|
| MMRRC Submission |
043184-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.414)
|
| Stock # |
R5709 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
45423276-45530828 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 45458327 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 279
(E279G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000060433
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000061986]
[ENSMUST00000146236]
[ENSMUST00000147448]
|
| AlphaFold |
Q6PD21 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000061986
AA Change: E279G
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000060433
Gene: ENSMUSG00000044813
AA Change: E279G
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
42 |
N/A |
INTRINSIC |
|
low complexity region
|
47 |
68 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
125 |
N/A |
INTRINSIC |
|
low complexity region
|
131 |
157 |
N/A |
INTRINSIC |
|
low complexity region
|
354 |
369 |
N/A |
INTRINSIC |
|
SH2
|
402 |
485 |
3.29e-28 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125599
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130107
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000146236
AA Change: E80G
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000147448
AA Change: E51G
PolyPhen 2
Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000147926
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for a null allele exhibit some embryonic lethality associated with various embryogenesis defects including loss of embryo structures, open neural tube, hemorrhaging and tail defects. Heterozygous mice exhibit a distortion in the transmission ratio of the allele maternally. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Armt1 |
T |
G |
10: 4,384,903 (GRCm39) |
H39Q |
probably damaging |
Het |
| Car14 |
A |
T |
3: 95,806,300 (GRCm39) |
L284Q |
possibly damaging |
Het |
| Ccdc154 |
T |
C |
17: 25,389,118 (GRCm39) |
S437P |
probably damaging |
Het |
| Dpp9 |
C |
T |
17: 56,496,393 (GRCm39) |
V772I |
probably benign |
Het |
| Gm973 |
A |
T |
1: 59,591,714 (GRCm39) |
K366I |
possibly damaging |
Het |
| Gtf2h3 |
C |
T |
5: 124,722,360 (GRCm39) |
T121I |
probably benign |
Het |
| Iglc2 |
T |
C |
16: 19,017,384 (GRCm39) |
T74A |
probably benign |
Het |
| Inhbb |
T |
A |
1: 119,345,260 (GRCm39) |
Y343F |
probably damaging |
Het |
| Krt13 |
C |
T |
11: 100,008,469 (GRCm39) |
G423R |
unknown |
Het |
| Lama3 |
T |
G |
18: 12,672,856 (GRCm39) |
M2483R |
probably damaging |
Het |
| Lrrc66 |
T |
C |
5: 73,766,206 (GRCm39) |
E279G |
probably benign |
Het |
| Matr3 |
A |
G |
18: 35,715,015 (GRCm39) |
E205G |
probably damaging |
Het |
| Mkks |
G |
A |
2: 136,722,656 (GRCm39) |
T167I |
probably benign |
Het |
| Mmp24 |
T |
A |
2: 155,634,462 (GRCm39) |
Y61N |
probably damaging |
Het |
| Nfkb2 |
A |
G |
19: 46,298,960 (GRCm39) |
T665A |
probably damaging |
Het |
| Nlrp3 |
G |
A |
11: 59,446,574 (GRCm39) |
W773* |
probably null |
Het |
| Or10d5j |
A |
T |
9: 39,867,859 (GRCm39) |
V136E |
probably damaging |
Het |
| Prol1 |
A |
T |
5: 88,475,711 (GRCm39) |
R34* |
probably null |
Het |
| Rcn1 |
T |
C |
2: 105,225,128 (GRCm39) |
Y109C |
probably damaging |
Het |
| Rint1 |
T |
G |
5: 24,020,831 (GRCm39) |
V618G |
probably damaging |
Het |
| Rtkn2 |
T |
A |
10: 67,837,800 (GRCm39) |
N117K |
probably benign |
Het |
| Sbno2 |
T |
C |
10: 79,922,171 (GRCm39) |
M1V |
probably null |
Het |
| Smarcad1 |
A |
G |
6: 65,051,746 (GRCm39) |
D293G |
probably benign |
Het |
| Sohlh2 |
T |
C |
3: 55,099,723 (GRCm39) |
L165P |
probably benign |
Het |
| Spred2 |
T |
C |
11: 19,971,415 (GRCm39) |
C428R |
probably damaging |
Het |
| Stra8 |
A |
T |
6: 34,904,697 (GRCm39) |
D13V |
possibly damaging |
Het |
| Tdrd12 |
A |
G |
7: 35,175,478 (GRCm39) |
V976A |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,773,731 (GRCm39) |
S2297P |
unknown |
Het |
| Ttn |
A |
G |
2: 76,725,002 (GRCm39) |
|
probably null |
Het |
| Usp1 |
A |
G |
4: 98,819,360 (GRCm39) |
D274G |
probably damaging |
Het |
| Vmn1r4 |
A |
G |
6: 56,933,604 (GRCm39) |
K36R |
probably benign |
Het |
| Zfp386 |
T |
A |
12: 116,023,305 (GRCm39) |
I306N |
probably benign |
Het |
| Zmpste24 |
T |
C |
4: 120,923,075 (GRCm39) |
D380G |
probably benign |
Het |
|
| Other mutations in Shb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0555:Shb
|
UTSW |
4 |
45,458,321 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1180:Shb
|
UTSW |
4 |
45,423,996 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R1952:Shb
|
UTSW |
4 |
45,458,347 (GRCm39) |
splice site |
probably null |
|
|
R6863:Shb
|
UTSW |
4 |
45,458,163 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7920:Shb
|
UTSW |
4 |
45,489,054 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8315:Shb
|
UTSW |
4 |
45,489,079 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8672:Shb
|
UTSW |
4 |
45,489,161 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8742:Shb
|
UTSW |
4 |
45,458,319 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8745:Shb
|
UTSW |
4 |
45,458,319 (GRCm39) |
missense |
probably benign |
0.31 |
|
R8916:Shb
|
UTSW |
4 |
45,489,154 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGGTGACCCGGTTCCATTC -3'
(R):5'- TACGAGGGCTGTTCAGAACC -3'
Sequencing Primer
(F):5'- ATTCCCACGGCTGGTCGTAC -3'
(R):5'- AGAACACATTTGCCACTTGCTG -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation