Mutagenetix > Incidental Mutation

Incidental Mutation 'R2360:Sh2d4b'

247127

Institutional Source

Beutler Lab

Gene Symbol

Sh2d4b

Ensembl Gene

ENSMUSG00000037833

Gene Name

SH2 domain containing 4B

Synonyms

A430109M18Rik

MMRRC Submission

040342-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R2360 (G1)

Quality Score

199

Status

Validated

Chromosome

Chromosomal Location

40535746-40615223 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 40582548 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000093699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096000]

AlphaFold

A6X942

Predicted Effect

probably null
Transcript: ENSMUST00000096000

SMART Domains

Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
coiled coil region	149	234	N/A	INTRINSIC
SH2	323	406	4.87e-22	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225854

Meta Mutation Damage Score

0.9709

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

93% (37/40)

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,214 (GRCm39)		noncoding transcript	Het
Abca14	A	G	7: 119,850,431 (GRCm39)	E761G	probably benign	Het
Apc	C	T	18: 34,394,179 (GRCm39)	T35I	probably damaging	Het
Arhgef2	T	A	3: 88,541,723 (GRCm39)	I228N	probably damaging	Het
Atp6v1g2	A	G	17: 35,456,638 (GRCm39)	E74G	probably damaging	Het
Ccdc70	A	G	8: 22,463,447 (GRCm39)	E79G	probably damaging	Het
Cdc42ep4	A	G	11: 113,619,528 (GRCm39)	S288P	probably damaging	Het
Cip2a	C	T	16: 48,837,828 (GRCm39)	Q843*	probably null	Het
Cpn2	T	C	16: 30,078,321 (GRCm39)	D460G	probably benign	Het
Crtam	A	G	9: 40,884,811 (GRCm39)	*393Q	probably null	Het
Cwc22	A	G	2: 77,757,591 (GRCm39)	I179T	probably damaging	Het
Cyp3a41b	T	C	5: 145,507,221 (GRCm39)	M240V	probably benign	Het
Dnah8	A	T	17: 30,896,178 (GRCm39)	D864V	probably benign	Het
Map3k7	T	C	4: 31,964,302 (GRCm39)	S14P	unknown	Het
Med25	A	G	7: 44,534,566 (GRCm39)	S150P	probably damaging	Het
Mex3b	T	C	7: 82,517,070 (GRCm39)	V71A	probably benign	Het
Morc3	T	C	16: 93,638,275 (GRCm39)	L19S	probably damaging	Het
Morn1	T	A	4: 155,176,770 (GRCm39)	S98T	probably damaging	Het
Mthfd1l	G	T	10: 4,006,771 (GRCm39)	A678S	probably damaging	Het
Napa	A	G	7: 15,848,083 (GRCm39)	Y200C	probably damaging	Het
Nr5a2	T	C	1: 136,876,565 (GRCm39)	I33V	probably benign	Het
Or14j6	A	G	17: 38,215,345 (GRCm39)	K303E	possibly damaging	Het
Pcnx1	A	G	12: 81,996,960 (GRCm39)	D952G	probably damaging	Het
Phf20l1	G	A	15: 66,466,769 (GRCm39)	R66Q	probably damaging	Het
Resf1	A	G	6: 149,236,145 (GRCm39)	I1488M	probably benign	Het
Rfk	A	G	19: 17,375,960 (GRCm39)	T85A	probably benign	Het
Sbno2	T	C	10: 79,893,855 (GRCm39)	D1179G	possibly damaging	Het
Serpina3k	C	T	12: 104,307,166 (GRCm39)	Q133*	probably null	Het
Setd4	T	C	16: 93,383,122 (GRCm39)		probably benign	Het
Slc1a6	G	A	10: 78,648,718 (GRCm39)	V480I	possibly damaging	Het
Slc39a3	A	T	10: 80,867,104 (GRCm39)	V214E	possibly damaging	Het
Tll1	A	G	8: 64,504,435 (GRCm39)	Y654H	probably damaging	Het
Traf3ip1	T	A	1: 91,427,374 (GRCm39)	C115S	unknown	Het
Vmn1r209	T	A	13: 22,989,836 (GRCm39)	I285F	probably damaging	Het
Vmn2r87	G	T	10: 130,315,631 (GRCm39)	T145K	probably damaging	Het
Zan	T	C	5: 137,394,388 (GRCm39)	T4484A	unknown	Het
Zfp768	T	C	7: 126,943,810 (GRCm39)	E106G	probably benign	Het
Zfp984	A	G	4: 147,839,234 (GRCm39)	I539T	possibly damaging	Het

Other mutations in Sh2d4b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Sh2d4b	APN	14	40,594,490 (GRCm39)	missense	probably benign	0.00
IGL01552:Sh2d4b	APN	14	40,582,605 (GRCm39)	missense	probably benign
IGL02556:Sh2d4b	APN	14	40,542,700 (GRCm39)	missense	probably benign	0.00
R0961:Sh2d4b	UTSW	14	40,596,139 (GRCm39)	missense	probably benign	0.07
R1573:Sh2d4b	UTSW	14	40,564,329 (GRCm39)	critical splice donor site	probably null
R1672:Sh2d4b	UTSW	14	40,614,921 (GRCm39)	start codon destroyed	probably null	1.00
R3951:Sh2d4b	UTSW	14	40,594,503 (GRCm39)	missense	probably damaging	0.98
R4728:Sh2d4b	UTSW	14	40,564,389 (GRCm39)	nonsense	probably null
R4824:Sh2d4b	UTSW	14	40,562,301 (GRCm39)	missense	probably benign	0.01
R6222:Sh2d4b	UTSW	14	40,542,694 (GRCm39)	missense	probably damaging	1.00
R6497:Sh2d4b	UTSW	14	40,596,139 (GRCm39)	missense	probably benign	0.07
R6541:Sh2d4b	UTSW	14	40,542,748 (GRCm39)	missense	probably benign
R7136:Sh2d4b	UTSW	14	40,562,209 (GRCm39)	missense	probably benign	0.08
R7864:Sh2d4b	UTSW	14	40,562,208 (GRCm39)	missense	probably damaging	0.98
R7947:Sh2d4b	UTSW	14	40,542,723 (GRCm39)	missense	probably damaging	1.00
R8843:Sh2d4b	UTSW	14	40,614,832 (GRCm39)	missense	probably benign	0.15
R8886:Sh2d4b	UTSW	14	40,595,946 (GRCm39)	intron	probably benign
R9292:Sh2d4b	UTSW	14	40,537,914 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- ATGCAAGACATCTCCAGGGC -3'
(R):5'- CGTTCTAATCCCACAGACGG -3'

Sequencing Primer
(F):5'- GCAGGCACATAGACTCCTGAG -3'
(R):5'- ACAGACGGGTTCCCCATTCTAATG -3'

Posted On

2014-10-30