Mutagenetix > Incidental Mutation

Incidental Mutation 'RF013:Sh2d6'

603331

Institutional Source

Beutler Lab

Gene Symbol

Sh2d6

Ensembl Gene

ENSMUSG00000052631

Gene Name

SH2 domain containing 6

Synonyms

4933424C13Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

RF013 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

72490624-72498690 bp(-) (GRCm39)

Type of Mutation

critical splice donor site (1 bp from exon)

DNA Base Change (assembly)

C to T at 72493371 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000124673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000089687] [ENSMUST00000159877] [ENSMUST00000162561]

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000089687

SMART Domains

Protein: ENSMUSP00000087117
Gene: ENSMUSG00000052631

Domain	Start	End	E-Value	Type
low complexity region	32	43	N/A	INTRINSIC
low complexity region	163	176	N/A	INTRINSIC
SH2	184	276	3.15e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000159877

SMART Domains

Protein: ENSMUSP00000123776
Gene: ENSMUSG00000052631

Domain	Start	End	E-Value	Type
low complexity region	117	130	N/A	INTRINSIC
SH2	138	230	3.15e-16	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000162561

SMART Domains

Protein: ENSMUSP00000124673
Gene: ENSMUSG00000052631

Domain	Start	End	E-Value	Type
low complexity region	59	70	N/A	INTRINSIC
low complexity region	190	203	N/A	INTRINSIC
SH2	211	303	3.15e-16	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap3	CCTGGGCTGCTG	CCTGGGCTGCTGCATACTGGGCTGCTG	4: 155,989,553 (GRCm39)		probably benign	Het
Adamts9	A	G	6: 92,920,126 (GRCm39)	V4A	possibly damaging	Het
AI837181	GGC	GGCTGC	19: 5,475,260 (GRCm39)		probably benign	Het
Alk	A	G	17: 72,202,931 (GRCm39)	Y1135H	probably damaging	Het
Ankhd1	CGGCGG	CGGCGGAGGCGG	18: 36,693,979 (GRCm39)		probably benign	Het
Ano3	A	C	2: 110,527,381 (GRCm39)	L609R	probably benign	Het
Bicc1	A	G	10: 70,771,660 (GRCm39)		probably null	Het
Bltp1	TTAT	TTATTATTATTATTAGTAT	3: 37,104,906 (GRCm39)		probably benign	Het
Card6	T	C	15: 5,129,624 (GRCm39)	I591V	probably benign	Het
Ccdc121rt2	T	A	5: 112,597,937 (GRCm39)	N161K	probably benign	Het
Ccdc18	A	G	5: 108,368,582 (GRCm39)	N1235D	probably benign	Het
Cd109	TTAT	TTATTTATTTATCTAT	9: 78,619,813 (GRCm39)		probably benign	Het
Cnpy3	CCT	CCTGCT	17: 47,047,670 (GRCm39)		probably benign	Het
Col6a5	GCAGTC	GCAGTCTCCAGTC	9: 105,755,796 (GRCm39)		probably null	Het
Cyb5r4	GACACACTGCCCAGGGA	GACACACTGCCCAGGGATGTGACACACACACTGCCCAGGGA	9: 86,922,485 (GRCm39)		probably benign	Het
Cyp8b1	A	T	9: 121,744,561 (GRCm39)	M257K	possibly damaging	Het
Dbf4	A	T	5: 8,447,985 (GRCm39)	H408Q	possibly damaging	Het
Defb22	TTGCGGCA	TTGCGGCAGAGCTGGCCTGTGCGGCA	2: 152,327,751 (GRCm39)		probably benign	Het
Ercc6l2	A	T	13: 64,000,831 (GRCm39)	T417S	probably benign	Het
Exd2	AGCCACAG	A	12: 80,522,706 (GRCm39)		probably null	Het
Fam171b	GC	GCAGCATC	2: 83,643,239 (GRCm39)		probably benign	Het
Flvcr2	T	A	12: 85,793,960 (GRCm39)	L112Q	probably damaging	Het
Flywch1	GTG	GTGGGGGGAGGCTACGTACTCACCCACTCCTTTTG	17: 23,981,149 (GRCm39)		probably null	Het
Gabre	TCAGGCTCAGGCT	TCAGGCTCAGGCTCAGGCT	X: 71,314,022 (GRCm39)		probably benign	Het
Garin5a	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGACGGCTGGATCCTGGATCACTGGGTCTGAGGGAGGA	7: 44,149,944 (GRCm39)		probably null	Het
Gm4884	C	A	7: 40,690,233 (GRCm39)	P43Q	probably damaging	Het
Grm8	A	G	6: 27,363,779 (GRCm39)	W579R	probably damaging	Het
Hsdl2	AG	AGCAGCAGCCACAGCTGCCG	4: 59,610,657 (GRCm39)		probably benign	Het
Ivl	CTGCTGCTGCTGCTGT	C	3: 92,479,650 (GRCm39)		probably benign	Het
Kif18b	T	C	11: 102,803,192 (GRCm39)	D506G	probably benign	Het
Krtap28-10	AGCCAC	AGCCACGGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Krtap28-10	GCCACAGCCACCACA	GCCACAGCCACCACATCCACAGCCACCACA	1: 83,019,995 (GRCm39)		probably benign	Het
Lama1	C	A	17: 68,088,057 (GRCm39)	S1558R		Het
Lcmt1	C	CCGCGGGGCTT	7: 122,969,059 (GRCm39)		probably null	Het
Lmna	A	G	3: 88,391,361 (GRCm39)	V494A	probably benign	Het
Mapk6	CCAC	CCACCTCAC	9: 75,295,542 (GRCm39)		probably null	Het
Mboat7	T	A	7: 3,694,856 (GRCm39)	H52L	probably damaging	Het
Med12l	CAG	CAGAAG	3: 59,183,387 (GRCm39)		probably benign	Het
Morc2a	T	A	11: 3,626,191 (GRCm39)	M225K	probably benign	Het
Mpdz	G	A	4: 81,211,829 (GRCm39)	A1566V	possibly damaging	Het
Mpi	T	C	9: 57,455,924 (GRCm39)	D186G	probably benign	Het
Mtmr12	C	A	15: 12,261,984 (GRCm39)	N386K	probably damaging	Het
Myh3	ATTAC	ATTACTTAC	11: 66,977,182 (GRCm39)		probably null	Het
Myo10	T	A	15: 25,799,565 (GRCm39)	M1376K	probably damaging	Het
Nbas	C	T	12: 13,329,409 (GRCm39)	T118I	possibly damaging	Het
Nedd4l	C	T	18: 65,342,751 (GRCm39)	R755C	probably damaging	Het
Nefh	GACTTGGCCTCACCTGGG	GACTTGGCCTCACCTGGGTACTTGGCCTCACCTGGG	11: 4,891,032 (GRCm39)		probably benign	Het
Numa1	T	C	7: 101,648,987 (GRCm39)	L906P	probably damaging	Het
Or6s1	G	A	14: 51,308,469 (GRCm39)	A127V	probably damaging	Het
Or7h8	T	C	9: 20,124,190 (GRCm39)	S182P	probably benign	Het
Otop2	G	T	11: 115,214,492 (GRCm39)	R83L	probably benign	Het
Pmm1	T	A	15: 81,842,014 (GRCm39)	Q62L	probably damaging	Het
Pramel16	C	G	4: 143,675,478 (GRCm39)	Q449H	probably damaging	Het
Ptprj	A	T	2: 90,301,514 (GRCm39)	L206*	probably null	Het
Rassf6	TC	TCTGCCTCACTCATGGTCCTGTAGAGCATTGGGGATCC	5: 90,756,800 (GRCm39)		probably benign	Het
Rps19	A	AGAAAAT	7: 24,588,605 (GRCm39)		probably benign	Het
Rsrp1	T	A	4: 134,651,266 (GRCm39)	V10E	unknown	Het
Six4	TG	T	12: 73,150,356 (GRCm39)		probably null	Het
Slc6a15	T	A	10: 103,236,077 (GRCm39)	V264D	probably damaging	Het
Snapc5	ATGGAAGAAGAGG	A	9: 64,089,493 (GRCm39)		probably benign	Het
Sost	A	T	11: 101,854,958 (GRCm39)	I117N	probably damaging	Het
Spmip5	A	G	19: 58,777,726 (GRCm39)	F28S	probably damaging	Het
Tbc1d22a	AGGTGTGTG	A	15: 86,183,975 (GRCm39)		probably null	Het
Tcaf1	C	T	6: 42,656,107 (GRCm39)	V290I	probably benign	Het
Tcof1	GCA	GCACCA	18: 60,968,815 (GRCm39)		probably benign	Het
Tex55	T	C	16: 38,648,363 (GRCm39)	T249A	probably benign	Het
Tgfbr1	A	G	4: 47,353,354 (GRCm39)	I15V	unknown	Het
Tmem241	A	T	18: 12,116,618 (GRCm39)	L288Q	probably damaging	Het
Tnfrsf13b	T	G	11: 61,032,270 (GRCm39)	V100G	probably benign	Het
Trim66	A	G	7: 109,059,960 (GRCm39)	S809P	probably damaging	Het
Tubb4a	C	G	17: 57,394,464 (GRCm39)	G17A	possibly damaging	Het
Txndc16	A	G	14: 45,406,795 (GRCm39)	V220A	probably benign	Het
Zan	T	A	5: 137,389,982 (GRCm39)	Q4830L	unknown	Het

Other mutations in Sh2d6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01111:Sh2d6	APN	6	72,496,812 (GRCm39)	missense	probably benign
IGL01386:Sh2d6	APN	6	72,495,945 (GRCm39)	missense	probably benign	0.04
IGL02058:Sh2d6	APN	6	72,490,961 (GRCm39)	nonsense	probably null
IGL02950:Sh2d6	APN	6	72,492,285 (GRCm39)	missense	probably damaging	1.00
IGL02963:Sh2d6	APN	6	72,494,584 (GRCm39)	missense	probably benign	0.01
R1981:Sh2d6	UTSW	6	72,494,527 (GRCm39)	splice site	probably benign
R2304:Sh2d6	UTSW	6	72,497,542 (GRCm39)	missense	probably damaging	1.00
R4520:Sh2d6	UTSW	6	72,495,936 (GRCm39)	missense	possibly damaging	0.48
R4793:Sh2d6	UTSW	6	72,494,581 (GRCm39)	missense	probably benign
R5079:Sh2d6	UTSW	6	72,496,833 (GRCm39)	missense	probably benign	0.02
R7424:Sh2d6	UTSW	6	72,494,147 (GRCm39)	missense	probably benign	0.05
R9045:Sh2d6	UTSW	6	72,492,604 (GRCm39)	missense	probably benign	0.22
R9246:Sh2d6	UTSW	6	72,497,594 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- ATCTTGGGACACATACTGGC -3'
(R):5'- TAGGTCAGTGGCTGGTTACC -3'

Sequencing Primer
(F):5'- GACACATACTGGCTGCTTTTCGAG -3'
(R):5'- TTACCAGGAGGCTCGGAATG -3'

Posted On

2019-12-04