Mutagenetix > Incidental Mutation

Incidental Mutation 'R6497:Sh2d4b'

523078

Institutional Source

Beutler Lab

Gene Symbol

Sh2d4b

Ensembl Gene

ENSMUSG00000037833

Gene Name

SH2 domain containing 4B

Synonyms

A430109M18Rik

MMRRC Submission

044629-MU

Accession Numbers

Essential gene?

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

Stock #

R6497 (G1)

Quality Score

194.009

Status

Validated

Chromosome

Chromosomal Location

40535746-40615223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 40596139 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 81 (V81A)

Ref Sequence

ENSEMBL: ENSMUSP00000093699 (fasta)

Gene Model

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

AlphaFold

A6X942

Predicted Effect

probably benign
Transcript: ENSMUST00000096000
AA Change: V81A

PolyPhen 2 Score 0.069 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: V81A

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.5%

Validation Efficiency

98% (42/43)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	T	A	19: 43,793,544 (GRCm39)	Y399N	probably damaging	Het
Acsm3	G	A	7: 119,379,972 (GRCm39)		probably null	Het
Aldh16a1	T	A	7: 44,794,361 (GRCm39)	S556C	possibly damaging	Het
Armc7	T	C	11: 115,367,077 (GRCm39)	I74T	probably benign	Het
Atp13a4	T	C	16: 29,298,719 (GRCm39)	D80G	probably damaging	Het
Bicral	A	T	17: 47,136,499 (GRCm39)	I237K	probably damaging	Het
Caskin1	T	C	17: 24,723,522 (GRCm39)	V770A	probably benign	Het
Cd209c	T	C	8: 3,994,122 (GRCm39)	K113E	possibly damaging	Het
Cdh20	G	A	1: 109,993,528 (GRCm39)		probably null	Het
Clca3a1	A	T	3: 144,465,020 (GRCm39)	V71D	possibly damaging	Het
Cntnap5a	T	C	1: 116,505,627 (GRCm39)	L1228P	probably damaging	Het
Cntrl	A	G	2: 35,025,584 (GRCm39)	N85D	possibly damaging	Het
Coch	G	A	12: 51,649,504 (GRCm39)	V272M	probably benign	Het
Col22a1	T	C	15: 71,762,425 (GRCm39)	E78G	possibly damaging	Het
Cyp2c66	T	A	19: 39,151,821 (GRCm39)	C179S	probably damaging	Het
Dsg3	A	G	18: 20,670,305 (GRCm39)	I681V	probably benign	Het
Egflam	A	T	15: 7,280,784 (GRCm39)		probably null	Het
Fut10	T	A	8: 31,726,278 (GRCm39)	D344E	probably damaging	Het
Gad2	C	T	2: 22,558,269 (GRCm39)	P329L	probably damaging	Het
Gm14393	T	C	2: 174,903,427 (GRCm39)	E160G	possibly damaging	Het
Gprc6a	T	C	10: 51,491,797 (GRCm39)	I476V	probably benign	Het
Limk2	A	G	11: 3,310,492 (GRCm39)	F71L	probably benign	Het
Neb	A	T	2: 52,148,301 (GRCm39)	N2648K	possibly damaging	Het
Or51f5	T	A	7: 102,424,657 (GRCm39)	F309I	probably benign	Het
Or52d1	T	C	7: 103,756,422 (GRCm39)		probably benign	Het
Or8d1b	G	A	9: 38,887,490 (GRCm39)	V173I	probably benign	Het
Pcdhgb7	T	A	18: 37,886,906 (GRCm39)	V692E	probably damaging	Het
Pclo	A	C	5: 14,843,869 (GRCm39)	K4802Q	unknown	Het
Primpol	A	T	8: 47,039,376 (GRCm39)		probably null	Het
Prr14	C	T	7: 127,073,750 (GRCm39)	R205C	probably benign	Het
Rbm12b1	T	C	4: 12,146,431 (GRCm39)	I801T	probably benign	Het
Ror2	A	T	13: 53,285,955 (GRCm39)	N86K	probably damaging	Het
Rsf1	G	GACGGCGGCT	7: 97,229,116 (GRCm39)		probably benign	Het
Skint6	A	G	4: 113,093,595 (GRCm39)	Y183H	probably damaging	Het
Snapc3	G	T	4: 83,371,363 (GRCm39)	E388*	probably null	Het
Srrm4	A	T	5: 116,605,550 (GRCm39)	S236T	unknown	Het
Srrt	G	T	5: 137,295,768 (GRCm39)	P193H	probably damaging	Het
Sspo	A	T	6: 48,472,142 (GRCm39)	T810S	possibly damaging	Het
Stk36	A	G	1: 74,642,391 (GRCm39)	H6R	probably damaging	Het
Tiam2	A	G	17: 3,557,102 (GRCm39)	T1181A	probably damaging	Het
Tmem184a	A	G	5: 139,798,755 (GRCm39)	F65L	probably damaging	Het
Vwa8	A	G	14: 79,333,841 (GRCm39)	I1330M	probably benign	Het
Zfp827	T	A	8: 79,906,757 (GRCm39)	M923K	probably 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
R2360:Sh2d4b	UTSW	14	40,582,548 (GRCm39)	critical splice donor site	probably null
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
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'- GCTTAGATCTCCCCAAGACTC -3'
(R):5'- GCTGCCTAGAGGGAATGATG -3'

Sequencing Primer
(F):5'- AAGACTCCAGGCTCAGGC -3'
(R):5'- GGGAACTTCTTGAACCTGTATTCAG -3'

Posted On

2018-06-06