Mutagenetix > Incidental Mutation

Incidental Mutation 'R8052:Shd'

619148

Institutional Source

Beutler Lab

Gene Symbol

Shd

Ensembl Gene

ENSMUSG00000039154

Gene Name

src homology 2 domain-containing transforming protein D

Synonyms

MMRRC Submission

067489-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R8052 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

56277467-56283625 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 56283235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 288 (S288T)

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: S288T

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000047656
Gene: ENSMUSG00000039154
AA Change: S288T

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 damaging
Transcript: ENSMUST00000223629
AA Change: S289T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000225145

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi1	T	C	2: 22,843,555 (GRCm39)	T297A	probably benign	Het
Acadl	G	T	1: 66,892,337 (GRCm39)	T162K	probably benign	Het
Aldoart2	A	T	12: 55,612,536 (GRCm39)	I154F	probably damaging	Het
Alkbh8	G	A	9: 3,385,478 (GRCm39)	R625H	probably damaging	Het
Ankrd31	T	A	13: 96,969,036 (GRCm39)	V891E	probably benign	Het
Aopep	G	A	13: 63,216,065 (GRCm39)	V446I	probably damaging	Het
Atp8b5	C	T	4: 43,356,982 (GRCm39)	R577*	probably null	Het
Capn3	G	T	2: 120,316,867 (GRCm39)	E285D	probably benign	Het
Cd79b	G	T	11: 106,204,526 (GRCm39)	P87T	probably damaging	Het
Celsr2	T	G	3: 108,319,971 (GRCm39)	D947A	probably damaging	Het
Csmd3	A	C	15: 47,569,783 (GRCm39)	S1213R		Het
Cyp2j5	T	C	4: 96,552,241 (GRCm39)	M3V	probably benign	Het
Ddi1	C	T	9: 6,265,787 (GRCm39)	R194K	probably benign	Het
Decr1	T	C	4: 15,933,019 (GRCm39)	K49R	probably benign	Het
Dnah10	A	C	5: 124,905,575 (GRCm39)	E4130A	probably benign	Het
Dst	A	G	1: 34,323,444 (GRCm39)	D4648G	probably damaging	Het
Ecd	A	G	14: 20,380,020 (GRCm39)		probably null	Het
Erbin	A	T	13: 103,970,864 (GRCm39)	Y917*	probably null	Het
Evpl	T	C	11: 116,113,989 (GRCm39)	K1234E	probably benign	Het
F11r	T	A	1: 171,289,191 (GRCm39)	Y218N	possibly damaging	Het
Fam43a	C	G	16: 30,420,622 (GRCm39)	T402S	probably benign	Het
Frem2	T	C	3: 53,457,064 (GRCm39)	N2096S	probably benign	Het
Gpd2	T	A	2: 57,196,962 (GRCm39)	Y172*	probably null	Het
Hscb	A	G	5: 110,983,844 (GRCm39)	V90A	probably benign	Het
Iqgap2	T	C	13: 95,794,387 (GRCm39)	D1195G	probably damaging	Het
Map2k2	T	C	10: 80,950,900 (GRCm39)	I115T	probably damaging	Het
Mast2	C	T	4: 116,170,172 (GRCm39)	R707H	probably damaging	Het
Mindy4	A	G	6: 55,277,977 (GRCm39)	N607S	probably damaging	Het
Mrpl9	T	A	3: 94,351,050 (GRCm39)	Y77N	probably damaging	Het
Muc16	G	A	9: 18,570,347 (GRCm39)	T724I	unknown	Het
Nat3	A	T	8: 68,000,478 (GRCm39)	Y119F	possibly damaging	Het
Nol7	T	C	13: 43,554,990 (GRCm39)	S208P	probably damaging	Het
Notch3	A	T	17: 32,365,545 (GRCm39)	C1056S	probably damaging	Het
Nup50l	TCC	TCCGCC	6: 96,142,078 (GRCm39)		probably benign	Het
Nup50l	TCC	TCCCCC	6: 96,142,084 (GRCm39)		probably benign	Het
Or13j1	A	T	4: 43,705,884 (GRCm39)	V228E	probably damaging	Het
Or3a4	T	A	11: 73,945,301 (GRCm39)	I95F	probably benign	Het
Or5al5	A	T	2: 85,961,721 (GRCm39)	Y95*	probably null	Het
Or8g17	G	T	9: 38,930,783 (GRCm39)	T18K	probably damaging	Het
Osbpl3	A	C	6: 50,322,995 (GRCm39)	L288R	probably damaging	Het
Oscp1	A	C	4: 125,982,116 (GRCm39)	D352A	possibly damaging	Het
Pcdh9	G	A	14: 94,123,222 (GRCm39)	R983C	probably benign	Het
Pcdhgb8	T	C	18: 37,896,555 (GRCm39)	S542P	probably benign	Het
Pi4ka	T	C	16: 17,174,030 (GRCm39)	T490A		Het
Pkd1l1	A	T	11: 8,897,315 (GRCm39)	D531E		Het
Potefam3d	A	T	8: 69,975,404 (GRCm39)	Y21N	possibly damaging	Het
Prr3	G	T	17: 36,290,053 (GRCm39)	D26E	possibly damaging	Het
Psmd8	T	C	7: 28,880,001 (GRCm39)	K24E	probably benign	Het
Rasgrp4	G	A	7: 28,849,362 (GRCm39)	C583Y	probably damaging	Het
Rest	A	G	5: 77,416,171 (GRCm39)	I128M	probably benign	Het
Rftn1	A	T	17: 50,393,607 (GRCm39)	F144I	probably damaging	Het
Rusc2	T	C	4: 43,421,851 (GRCm39)	F757S	probably benign	Het
Ryr1	A	G	7: 28,782,810 (GRCm39)	S1942P	probably benign	Het
Sdk2	C	T	11: 113,745,177 (GRCm39)	R706Q	probably damaging	Het
Sergef	G	T	7: 46,264,062 (GRCm39)	T275K	probably damaging	Het
Serpina10	T	C	12: 103,594,569 (GRCm39)	T217A	probably damaging	Het
Siglec15	C	A	18: 78,091,803 (GRCm39)	A133S	possibly damaging	Het
Stat4	C	T	1: 52,118,932 (GRCm39)	P325L	probably damaging	Het
Syt8	G	A	7: 141,993,881 (GRCm39)	G344D	probably damaging	Het
Tes	A	G	6: 17,097,291 (GRCm39)	E133G	probably benign	Het
Tmprss2	T	C	16: 97,369,616 (GRCm39)	Y386C	probably damaging	Het
Tnfrsf11b	A	T	15: 54,115,502 (GRCm39)	L365Q	probably damaging	Het
Tns1	T	A	1: 73,992,596 (GRCm39)	D67V	probably damaging	Het
Tns2	T	C	15: 102,021,280 (GRCm39)	S982P	probably damaging	Het
Tpcn2	A	T	7: 144,814,683 (GRCm39)	F473I	probably benign	Het
Tsg101	A	T	7: 46,542,257 (GRCm39)	I232N	probably damaging	Het
Ttc3	T	C	16: 94,268,848 (GRCm39)	S1977P	probably benign	Het
Ttll11	T	A	2: 35,869,527 (GRCm39)	E37V	unknown	Het
Ttn	A	T	2: 76,649,160 (GRCm39)	V12716E	possibly damaging	Het
Vmn2r70	A	C	7: 85,212,923 (GRCm39)	S495A	probably benign	Het
Zfp974	A	G	7: 27,610,697 (GRCm39)	C343R	probably damaging	Het
Zfy1	A	T	Y: 726,004 (GRCm39)	I587N	possibly 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
R8253:Shd	UTSW	17	56,283,295 (GRCm39)	missense
R8536:Shd	UTSW	17	56,283,315 (GRCm39)	missense	probably damaging	0.96
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'- AGACTGAGCTGAGAGCCATCAG -3'
(R):5'- AAGGAAGTCTGTGCGTCATGG -3'

Sequencing Primer
(F):5'- TGGCCTGGAACTCACTATGTAGAC -3'
(R):5'- TCTGTGCGTCATGGGTCCC -3'

Posted On

2020-01-23