Mutagenetix > Incidental Mutation

Incidental Mutation 'R6309:Sh3tc2'

509750

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc2

Ensembl Gene

ENSMUSG00000045629

Gene Name

SH3 domain and tetratricopeptide repeats 2

Synonyms

D430044G18Rik

MMRRC Submission

044413-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6309 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

62086002-62148790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62101081 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 58 (V58A)

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051720]

AlphaFold

Q80VA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000051720
AA Change: V58A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: V58A

Domain	Start	End	E-Value	Type
coiled coil region	75	101	N/A	INTRINSIC
SH3	179	238	1.02e0	SMART
SH3	270	329	6.76e-5	SMART
low complexity region	414	425	N/A	INTRINSIC
low complexity region	441	452	N/A	INTRINSIC
low complexity region	486	503	N/A	INTRINSIC
TPR	529	562	3.24e1	SMART
low complexity region	568	581	N/A	INTRINSIC
TPR	837	870	2.66e0	SMART
Blast:TPR	877	910	2e-7	BLAST
low complexity region	1011	1025	N/A	INTRINSIC
Blast:TPR	1045	1078	1e-12	BLAST
Blast:TPR	1127	1158	3e-7	BLAST
TPR	1167	1200	1.04e-2	SMART
Blast:TPR	1211	1235	5e-7	BLAST

Meta Mutation Damage Score

0.1392

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

92% (35/38)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein with two N-terminal Src homology 3 (SH3) domains and 10 tetratricopeptide repeat (TPR) motifs, and is a member of a small gene family. The gene product has been proposed to be an adapter or docking molecule. Mutations in this gene result in autosomal recessive Charcot-Marie-Tooth disease type 4C, a childhood-onset neurodegenerative disease characterized by demyelination of motor and sensory neurons. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit hypomyelination of peripheral axons with reduced conduction velocity and limb grasping. [provided by MGI curators]

Allele List at MGI

All alleles(3) : Targeted, other(3)

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,117,259 (GRCm39)		probably null	Het
Ak4	T	C	4: 101,320,859 (GRCm39)	Y223H	probably benign	Het
Cerk	T	C	15: 86,040,869 (GRCm39)		probably null	Het
Chd1l	G	A	3: 97,494,483 (GRCm39)	A399V	probably damaging	Het
Col18a1	A	G	10: 76,948,576 (GRCm39)		probably benign	Het
Cpeb3	T	G	19: 37,022,089 (GRCm39)	I569L	possibly damaging	Het
Dis3	A	T	14: 99,323,358 (GRCm39)	N569K	probably benign	Het
Erich5	T	C	15: 34,471,602 (GRCm39)	L277P	probably benign	Het
Fam171b	T	C	2: 83,690,804 (GRCm39)	S256P	probably damaging	Het
Glis3	A	G	19: 28,294,761 (GRCm39)	V679A	probably benign	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gm8212	A	G	14: 44,438,636 (GRCm39)		probably benign	Het
Grin2b	T	A	6: 135,710,025 (GRCm39)	T1174S	probably benign	Het
Hipk2	T	C	6: 38,675,446 (GRCm39)	Y1045C	probably damaging	Het
Hsf2	C	T	10: 57,362,676 (GRCm39)		probably benign	Het
Ighv1-4	G	T	12: 114,451,015 (GRCm39)	A31E	probably benign	Het
Il11ra1	A	G	4: 41,765,279 (GRCm39)	K151E	possibly damaging	Het
Inpp4b	T	A	8: 82,768,546 (GRCm39)	M685K	probably damaging	Het
Itga4	T	A	2: 79,109,429 (GRCm39)	D209E	probably damaging	Het
L1td1	T	C	4: 98,625,328 (GRCm39)	S508P	probably damaging	Het
Lrrn3	G	A	12: 41,503,205 (GRCm39)	R371C	probably damaging	Het
Nbeal1	A	G	1: 60,277,878 (GRCm39)	T755A	probably benign	Het
Odad2	A	G	18: 7,214,617 (GRCm39)	V728A	probably benign	Het
Or10al7	T	A	17: 38,366,043 (GRCm39)	Y138F	probably damaging	Het
Or2n1	T	C	17: 38,486,410 (GRCm39)	V145A	probably benign	Het
Phf24	A	G	4: 42,933,960 (GRCm39)	D14G	probably damaging	Het
Prkd1	A	T	12: 50,441,443 (GRCm39)	C314*	probably null	Het
Rnf187	A	T	11: 58,827,986 (GRCm39)	S155T	possibly damaging	Het
Rsf1	G	GACGGCGGCA	7: 97,229,116 (GRCm39)		probably benign	Homo
Scn10a	A	G	9: 119,453,181 (GRCm39)	I1237T	possibly damaging	Het
Sec16a	T	C	2: 26,328,583 (GRCm39)	N1144S	probably benign	Het
Slc37a3	T	C	6: 39,334,394 (GRCm39)	*84W	probably null	Het
Trpm2	T	A	10: 77,774,202 (GRCm39)	I466F	probably damaging	Het
Vmn2r108	T	A	17: 20,691,660 (GRCm39)	I288F	probably damaging	Het
Vmn2r67	T	C	7: 84,801,124 (GRCm39)	T271A	probably benign	Het
Vsig10l	A	G	7: 43,120,397 (GRCm39)		probably null	Het
Wdr95	A	G	5: 149,504,268 (GRCm39)		probably null	Het
Zfp960	T	C	17: 17,308,639 (GRCm39)	I451T	probably benign	Het

Other mutations in Sh3tc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Sh3tc2	APN	18	62,122,582 (GRCm39)	missense	probably damaging	1.00
IGL01523:Sh3tc2	APN	18	62,123,954 (GRCm39)	missense	probably benign	0.00
IGL02036:Sh3tc2	APN	18	62,147,978 (GRCm39)	missense	probably benign	0.17
IGL02189:Sh3tc2	APN	18	62,123,693 (GRCm39)	missense	probably benign	0.00
IGL02555:Sh3tc2	APN	18	62,123,308 (GRCm39)	missense	probably damaging	0.99
IGL02827:Sh3tc2	APN	18	62,146,230 (GRCm39)	missense	probably benign	0.34
IGL03033:Sh3tc2	APN	18	62,107,549 (GRCm39)	missense	possibly damaging	0.90
IGL03040:Sh3tc2	APN	18	62,122,481 (GRCm39)	missense	probably benign	0.00
IGL03062:Sh3tc2	APN	18	62,144,951 (GRCm39)	missense	probably damaging	1.00
IGL03386:Sh3tc2	APN	18	62,106,382 (GRCm39)	missense	probably benign	0.39
3-1:Sh3tc2	UTSW	18	62,124,209 (GRCm39)	missense	probably damaging	1.00
R1085:Sh3tc2	UTSW	18	62,148,067 (GRCm39)	missense	probably benign	0.01
R1166:Sh3tc2	UTSW	18	62,124,247 (GRCm39)	missense	probably damaging	0.99
R1182:Sh3tc2	UTSW	18	62,101,171 (GRCm39)	missense	probably benign	0.17
R1521:Sh3tc2	UTSW	18	62,141,559 (GRCm39)	missense	probably damaging	0.96
R1636:Sh3tc2	UTSW	18	62,122,792 (GRCm39)	missense	probably damaging	0.98
R1872:Sh3tc2	UTSW	18	62,144,954 (GRCm39)	missense	probably damaging	1.00
R1884:Sh3tc2	UTSW	18	62,141,646 (GRCm39)	missense	probably damaging	1.00
R1964:Sh3tc2	UTSW	18	62,124,226 (GRCm39)	nonsense	probably null
R2034:Sh3tc2	UTSW	18	62,120,737 (GRCm39)	missense	probably damaging	1.00
R2046:Sh3tc2	UTSW	18	62,123,914 (GRCm39)	missense	probably benign
R2113:Sh3tc2	UTSW	18	62,146,176 (GRCm39)	missense	probably damaging	1.00
R2363:Sh3tc2	UTSW	18	62,123,966 (GRCm39)	missense	probably benign	0.07
R2940:Sh3tc2	UTSW	18	62,122,757 (GRCm39)	missense	probably damaging	1.00
R2979:Sh3tc2	UTSW	18	62,122,556 (GRCm39)	missense	probably damaging	1.00
R3717:Sh3tc2	UTSW	18	62,123,414 (GRCm39)	missense	probably benign	0.04
R3718:Sh3tc2	UTSW	18	62,123,414 (GRCm39)	missense	probably benign	0.04
R4334:Sh3tc2	UTSW	18	62,123,392 (GRCm39)	missense	probably damaging	1.00
R4454:Sh3tc2	UTSW	18	62,140,844 (GRCm39)	missense	probably damaging	1.00
R4503:Sh3tc2	UTSW	18	62,107,694 (GRCm39)	missense	probably damaging	0.96
R4515:Sh3tc2	UTSW	18	62,120,764 (GRCm39)	splice site	probably null
R4659:Sh3tc2	UTSW	18	62,107,580 (GRCm39)	missense	probably benign	0.00
R4859:Sh3tc2	UTSW	18	62,146,164 (GRCm39)	missense	probably benign	0.00
R4901:Sh3tc2	UTSW	18	62,123,506 (GRCm39)	missense	probably benign	0.03
R5033:Sh3tc2	UTSW	18	62,147,962 (GRCm39)	splice site	probably null
R5269:Sh3tc2	UTSW	18	62,108,684 (GRCm39)	missense	probably benign	0.00
R5439:Sh3tc2	UTSW	18	62,122,704 (GRCm39)	nonsense	probably null
R5467:Sh3tc2	UTSW	18	62,123,759 (GRCm39)	missense	possibly damaging	0.81
R5468:Sh3tc2	UTSW	18	62,106,502 (GRCm39)	critical splice donor site	probably null
R5527:Sh3tc2	UTSW	18	62,144,932 (GRCm39)	missense	probably benign	0.00
R5829:Sh3tc2	UTSW	18	62,123,986 (GRCm39)	missense	probably benign	0.19
R5880:Sh3tc2	UTSW	18	62,106,382 (GRCm39)	missense	probably benign	0.39
R5948:Sh3tc2	UTSW	18	62,146,176 (GRCm39)	missense	probably damaging	1.00
R5951:Sh3tc2	UTSW	18	62,123,078 (GRCm39)	missense	probably damaging	1.00
R5973:Sh3tc2	UTSW	18	62,110,975 (GRCm39)	missense	probably benign	0.06
R5995:Sh3tc2	UTSW	18	62,123,081 (GRCm39)	missense	probably damaging	0.96
R6339:Sh3tc2	UTSW	18	62,108,642 (GRCm39)	nonsense	probably null
R6648:Sh3tc2	UTSW	18	62,148,111 (GRCm39)	missense	probably benign	0.00
R6723:Sh3tc2	UTSW	18	62,111,025 (GRCm39)	missense	probably damaging	1.00
R6752:Sh3tc2	UTSW	18	62,094,108 (GRCm39)	missense	probably benign	0.00
R7211:Sh3tc2	UTSW	18	62,122,474 (GRCm39)	missense	probably benign
R7367:Sh3tc2	UTSW	18	62,122,577 (GRCm39)	missense	probably benign	0.00
R7664:Sh3tc2	UTSW	18	62,148,042 (GRCm39)	nonsense	probably null
R7727:Sh3tc2	UTSW	18	62,122,651 (GRCm39)	missense	probably benign	0.02
R7823:Sh3tc2	UTSW	18	62,086,188 (GRCm39)	start codon destroyed	probably null	1.00
R8191:Sh3tc2	UTSW	18	62,106,429 (GRCm39)	missense	probably damaging	1.00
R8204:Sh3tc2	UTSW	18	62,086,200 (GRCm39)	missense	probably damaging	1.00
R8219:Sh3tc2	UTSW	18	62,144,932 (GRCm39)	missense	probably benign	0.00
R8260:Sh3tc2	UTSW	18	62,146,137 (GRCm39)	missense	probably damaging	1.00
R8413:Sh3tc2	UTSW	18	62,148,142 (GRCm39)	missense	probably benign	0.30
R8413:Sh3tc2	UTSW	18	62,123,873 (GRCm39)	missense	probably damaging	1.00
R9034:Sh3tc2	UTSW	18	62,107,571 (GRCm39)	missense	probably benign	0.07
R9043:Sh3tc2	UTSW	18	62,122,961 (GRCm39)	missense	possibly damaging	0.89
R9218:Sh3tc2	UTSW	18	62,101,101 (GRCm39)	missense	probably benign	0.09
R9249:Sh3tc2	UTSW	18	62,107,598 (GRCm39)	missense	possibly damaging	0.52
Z1176:Sh3tc2	UTSW	18	62,122,980 (GRCm39)	nonsense	probably null
Z1177:Sh3tc2	UTSW	18	62,148,062 (GRCm39)	missense	probably damaging	0.96
Z1177:Sh3tc2	UTSW	18	62,124,389 (GRCm39)	missense	probably benign	0.09
Z1177:Sh3tc2	UTSW	18	62,122,759 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAAGTAACCACTGTGCACCTC -3'
(R):5'- GGACCTACTTTGTTCCAGGC -3'

Sequencing Primer
(F):5'- ACTGTGCACCTCCTCTGAG -3'
(R):5'- GTTCCAGGCACAGTTCTTGC -3'

Posted On

2018-04-02