Mutagenetix > Incidental Mutation

Incidental Mutation 'R8536:Shd'

659260

Institutional Source

Beutler Lab

Gene Symbol

Shd

Ensembl Gene

ENSMUSG00000039154

Gene Name

src homology 2 domain-containing transforming protein D

Synonyms

MMRRC Submission

067890-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.140) question?

Stock #

R8536 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

56277467-56283625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 56283315 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 315 (A315T)

Ref Sequence

ENSEMBL: ENSMUSP00000047656 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044216] [ENSMUST00000223629] [ENSMUST00000225145]

AlphaFold

O88834

Predicted Effect

probably damaging
Transcript: ENSMUST00000044216
AA Change: A315T

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000047656
Gene: ENSMUSG00000039154
AA Change: A315T

Domain	Start	End	E-Value	Type
low complexity region	16	23	N/A	INTRINSIC
low complexity region	103	114	N/A	INTRINSIC
SH2	224	308	6.04e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000223629
AA Change: A316T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

probably benign
Transcript: ENSMUST00000225145

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (43/43)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,217 (GRCm39)	V217M	probably benign	Het
Abca4	A	G	3: 121,973,394 (GRCm39)	Q1074R	probably benign	Het
Ablim1	T	C	19: 57,170,718 (GRCm39)		probably benign	Het
Acox2	A	T	14: 8,256,081 (GRCm38)	D79E	probably benign	Het
Bpifb9b	A	G	2: 154,158,197 (GRCm39)	I440V	probably benign	Het
Ccdc7a	T	A	8: 129,516,601 (GRCm39)	T118S	possibly damaging	Het
Cntln	T	C	4: 84,875,286 (GRCm39)	I240T	probably damaging	Het
Col15a1	T	C	4: 47,208,536 (GRCm39)		probably null	Het
Cox18	A	G	5: 90,362,877 (GRCm39)	F326S	probably damaging	Het
Dnm1l	C	A	16: 16,176,639 (GRCm39)	V31L	probably benign	Het
Dst	C	A	1: 34,236,327 (GRCm39)	L3578M	possibly damaging	Het
Fbxw24	G	A	9: 109,452,599 (GRCm39)	T132I	probably damaging	Het
Fchsd1	A	G	18: 38,100,823 (GRCm39)	V120A	probably benign	Het
Fibcd1	T	C	2: 31,706,643 (GRCm39)	E396G	probably damaging	Het
Fryl	G	T	5: 73,257,696 (GRCm39)	T702K	probably damaging	Het
Gatb	A	T	3: 85,511,868 (GRCm39)	I208F	probably damaging	Het
Gzmd	T	C	14: 56,367,158 (GRCm39)	I245V	probably damaging	Het
Lats2	G	A	14: 57,940,495 (GRCm39)	A119V	probably damaging	Het
Lztfl1	A	T	9: 123,540,119 (GRCm39)	F129L	probably benign	Het
Meak7	T	C	8: 120,490,787 (GRCm39)	N320S	probably benign	Het
Mmp2	A	T	8: 93,557,253 (GRCm39)	Y53F	probably damaging	Het
Mttp	G	A	3: 137,810,704 (GRCm39)	R637C	probably damaging	Het
Ndufa8	A	C	2: 35,939,312 (GRCm39)		probably benign	Het
Nek11	A	T	9: 105,175,538 (GRCm39)	M302K	probably benign	Het
Nek6	A	G	2: 38,404,797 (GRCm39)		probably null	Het
Numa1	C	T	7: 101,650,787 (GRCm39)	A1506V	probably damaging	Het
Plxdc1	A	T	11: 97,869,522 (GRCm39)		probably null	Het
Poteg	C	A	8: 27,938,048 (GRCm39)	T6K	probably benign	Het
Rbm26	A	T	14: 105,380,274 (GRCm39)	N514K	possibly damaging	Het
Rnf145	T	C	11: 44,450,942 (GRCm39)	L422P	probably damaging	Het
Scn5a	G	T	9: 119,368,811 (GRCm39)	T238K	probably damaging	Het
Sirpd	A	G	3: 15,361,614 (GRCm39)	*179R	probably null	Het
Slco5a1	T	G	1: 12,951,525 (GRCm39)	T593P	possibly damaging	Het
Stard9	G	A	2: 120,545,140 (GRCm39)	R4560H	possibly damaging	Het
Traf3ip3	C	T	1: 192,876,823 (GRCm39)		probably null	Het
Trpm1	G	C	7: 63,897,155 (GRCm39)	K252N	probably damaging	Het
Ttc7b	A	T	12: 100,339,803 (GRCm39)	I584K	possibly damaging	Het
Vmn1r218	T	C	13: 23,321,535 (GRCm39)	V214A	probably benign	Het
Wdfy3	G	T	5: 102,033,064 (GRCm39)	H2215Q	probably benign	Het
Wls	G	A	3: 159,578,748 (GRCm39)	M103I	probably damaging	Het
Zmat4	T	C	8: 24,238,523 (GRCm39)		probably null	Het
Zmynd15	G	T	11: 70,353,387 (GRCm39)	C334F	probably damaging	Het

Other mutations in Shd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01325:Shd	APN	17	56,279,839 (GRCm39)	missense	possibly damaging	0.88
IGL02597:Shd	APN	17	56,280,987 (GRCm39)	missense	possibly damaging	0.93
IGL02674:Shd	APN	17	56,278,554 (GRCm39)	missense	possibly damaging	0.87
IGL02734:Shd	APN	17	56,278,632 (GRCm39)	missense	probably damaging	1.00
R1700:Shd	UTSW	17	56,281,307 (GRCm39)	missense	probably damaging	0.98
R1844:Shd	UTSW	17	56,278,554 (GRCm39)	missense	possibly damaging	0.87
R4066:Shd	UTSW	17	56,278,581 (GRCm39)	missense	probably damaging	1.00
R5407:Shd	UTSW	17	56,280,936 (GRCm39)	missense	probably damaging	1.00
R5432:Shd	UTSW	17	56,283,214 (GRCm39)	missense	probably damaging	0.98
R5534:Shd	UTSW	17	56,278,577 (GRCm39)	nonsense	probably null
R8052:Shd	UTSW	17	56,283,235 (GRCm39)	missense	probably damaging	1.00
R8253:Shd	UTSW	17	56,283,295 (GRCm39)	missense
R8560:Shd	UTSW	17	56,278,616 (GRCm39)	missense	probably benign
R9643:Shd	UTSW	17	56,283,268 (GRCm39)	missense	probably damaging	1.00
Z1176:Shd	UTSW	17	56,279,833 (GRCm39)	missense	probably benign	0.14

Predicted Primers

PCR Primer
(F):5'- GTTCTGCCTTGTCCCACAGAAG -3'
(R):5'- AGAACGACTTGCAGCTCTCG -3'

Sequencing Primer
(F):5'- AGCAACCAGGGTTCCATG -3'
(R):5'- TGGATTCCCAGGGTTGAGCC -3'

Posted On

2021-01-18