Mutagenetix > Incidental Mutation

Incidental Mutation 'R6222:Sh2d4b'

504099

Institutional Source

Beutler Lab

Gene Symbol

Sh2d4b

Ensembl Gene

ENSMUSG00000037833

Gene Name

SH2 domain containing 4B

Synonyms

A430109M18Rik

MMRRC Submission

044353-MU

Accession Numbers

Essential gene?

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

Stock #

R6222 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40535746-40615223 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 40542694 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Alanine at position 361 (S361A)

Ref Sequence

ENSEMBL: ENSMUSP00000093699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070328] [ENSMUST00000096000]

AlphaFold

A6X942

Predicted Effect

probably damaging
Transcript: ENSMUST00000070328
AA Change: S108A

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

SMART Domains

Protein: ENSMUSP00000064708
Gene: ENSMUSG00000037833
AA Change: S108A

Domain	Start	End	E-Value	Type
SH2	70	153	4.87e-22	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000096000
AA Change: S361A

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

SMART Domains

Protein: ENSMUSP00000093699
Gene: ENSMUSG00000037833
AA Change: S361A

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.2%
20x: 97.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930596D02Rik	T	C	14: 35,531,923 (GRCm39)	*217W	probably null	Het
Abcc3	A	G	11: 94,259,431 (GRCm39)	F337L	probably benign	Het
Abcc4	T	A	14: 118,767,368 (GRCm39)	H903L	probably damaging	Het
Akap7	T	A	10: 25,159,844 (GRCm39)	K119*	probably null	Het
Als2	T	C	1: 59,219,284 (GRCm39)	D1222G	probably benign	Het
Ano4	T	C	10: 88,863,084 (GRCm39)	Y296C	probably damaging	Het
Arid1b	A	G	17: 5,377,922 (GRCm39)		probably null	Het
Arl10	T	C	13: 54,726,644 (GRCm39)	F141L	probably damaging	Het
B130006D01Rik	T	C	11: 95,616,988 (GRCm39)		probably benign	Het
Bbs9	T	A	9: 22,479,147 (GRCm39)	S197T	possibly damaging	Het
Bicd1	A	T	6: 149,414,463 (GRCm39)	D392V	probably damaging	Het
Bmi1	T	A	2: 18,688,513 (GRCm39)	M168K	possibly damaging	Het
C7	A	T	15: 5,041,423 (GRCm39)	D494E	possibly damaging	Het
Cacna1s	A	T	1: 136,032,360 (GRCm39)	N1221I	probably benign	Het
Cacng7	A	G	7: 3,385,128 (GRCm39)	T10A	probably damaging	Het
Ccdc13	A	G	9: 121,627,975 (GRCm39)		probably benign	Het
Cdpf1	T	C	15: 85,691,643 (GRCm39)	R108G	possibly damaging	Het
Ceacam5	A	T	7: 17,479,472 (GRCm39)	K196N	probably benign	Het
Cftr	A	C	6: 18,282,500 (GRCm39)	T1067P	probably benign	Het
Cma2	T	C	14: 56,210,649 (GRCm39)	I112T	possibly damaging	Het
Cntnap4	A	G	8: 113,569,353 (GRCm39)	S916G	probably damaging	Het
Cwf19l2	T	A	9: 3,454,569 (GRCm39)	Y627*	probably null	Het
Fam204a	A	G	19: 60,188,400 (GRCm39)		probably null	Het
Galnt1	T	A	18: 24,397,591 (GRCm39)		probably null	Het
Gbe1	T	C	16: 70,325,900 (GRCm39)		probably null	Het
Gm6871	C	T	7: 41,196,006 (GRCm39)	D244N	probably damaging	Het
Gna15	T	C	10: 81,347,880 (GRCm39)	T189A	probably damaging	Het
Igsf10	C	T	3: 59,226,336 (GRCm39)	D2446N	possibly damaging	Het
Ing2	T	C	8: 48,121,966 (GRCm39)	K194R	possibly damaging	Het
Ino80d	G	A	1: 63,097,684 (GRCm39)	H737Y	probably damaging	Het
Izumo4	C	T	10: 80,538,885 (GRCm39)	R83W	probably damaging	Het
Kcnt1	G	A	2: 25,782,522 (GRCm39)	V219M	probably damaging	Het
Kiz	A	T	2: 146,732,981 (GRCm39)	S386C	probably damaging	Het
Ldlrap1	C	T	4: 134,484,671 (GRCm39)	E108K	probably damaging	Het
Nol11	G	T	11: 107,062,442 (GRCm39)	T598K	possibly damaging	Het
Or2ad1	T	C	13: 21,327,047 (GRCm39)	Y60C	probably damaging	Het
Or4c100	T	C	2: 88,329,614 (GRCm39)	Y62H	probably benign	Het
Pdzd2	T	C	15: 12,374,652 (GRCm39)	K1828E	probably damaging	Het
Prl3a1	T	C	13: 27,460,097 (GRCm39)	F194L	probably benign	Het
Prss1l	A	T	6: 41,374,100 (GRCm39)	Y234F	probably damaging	Het
Reg1	A	T	6: 78,404,357 (GRCm39)	Q77L	probably benign	Het
Ruvbl2	G	T	7: 45,074,149 (GRCm39)	D248E	probably damaging	Het
Sart3	C	T	5: 113,881,267 (GRCm39)	A938T	probably benign	Het
Serpinb5	T	A	1: 106,798,070 (GRCm39)	C20S	probably benign	Het
Snx2	T	A	18: 53,332,896 (GRCm39)	L190*	probably null	Het
Sorcs3	A	T	19: 48,748,296 (GRCm39)	Y755F	possibly damaging	Het
Styxl2	G	T	1: 165,926,214 (GRCm39)	Q1133K	probably benign	Het
Tiam2	A	G	17: 3,503,613 (GRCm39)	Q930R	probably damaging	Het
Tll1	C	A	8: 64,551,568 (GRCm39)	G271V	probably benign	Het
Tmem116	C	T	5: 121,629,171 (GRCm39)	T188M	probably benign	Het
Tmem181a	T	C	17: 6,351,192 (GRCm39)	V367A	probably benign	Het
Umodl1	T	C	17: 31,221,866 (GRCm39)		probably null	Het
Virma	C	T	4: 11,527,820 (GRCm39)	A1187V	probably damaging	Het
Wdr53	T	C	16: 32,075,482 (GRCm39)	V229A	probably benign	Het
Zcchc10	T	C	11: 53,223,289 (GRCm39)		probably benign	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
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'- ACCAAAGTTCCTGCCGATTC -3'
(R):5'- CATGGTTCGTCTGTGAAATGAGC -3'

Sequencing Primer
(F):5'- AAAGTTCCTGCCGATTCCATGC -3'
(R):5'- TTCGTCTGTGAAATGAGCCAGATAG -3'

Posted On

2018-02-28