Mutagenetix > Incidental Mutation

Incidental Mutation 'R3718:Sh3tc2'

258803

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc2

Ensembl Gene

ENSMUSG00000045629

Gene Name

SH3 domain and tetratricopeptide repeats 2

Synonyms

D430044G18Rik

MMRRC Submission

040710-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3718 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

62086002-62148790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 62123414 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 725 (V725A)

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

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

AlphaFold

Q80VA5

Predicted Effect

probably benign
Transcript: ENSMUST00000051720
AA Change: V725A

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: V725A

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.5%
10x: 97.1%
20x: 94.4%

Validation Efficiency

97% (36/37)

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: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abra	T	C	15: 41,729,689 (GRCm39)	D237G	probably benign	Het
Alas2	T	C	X: 149,343,726 (GRCm39)		probably benign	Het
Ano6	A	G	15: 95,811,260 (GRCm39)	D120G	probably damaging	Het
Aspm	T	C	1: 139,408,627 (GRCm39)	Y2505H	probably benign	Het
Aspm	G	A	1: 139,418,165 (GRCm39)	V2965I	probably benign	Het
Ccna2	A	T	3: 36,620,387 (GRCm39)	V285E	probably benign	Het
Dab1	C	T	4: 104,588,948 (GRCm39)	A524V	probably benign	Het
Dnajc10	A	G	2: 80,155,089 (GRCm39)		probably benign	Het
Dpp3	A	G	19: 4,973,093 (GRCm39)		probably null	Het
Gng11	G	A	6: 4,008,078 (GRCm39)	R47H	probably benign	Het
Hivep1	C	T	13: 42,311,971 (GRCm39)	H1404Y	probably damaging	Het
Il18r1	A	G	1: 40,534,948 (GRCm39)	E381G	probably benign	Het
Il9	G	A	13: 56,627,264 (GRCm39)	T116I	probably damaging	Het
Kcnh1	A	G	1: 191,921,107 (GRCm39)	T129A	probably damaging	Het
Mroh7	T	C	4: 106,561,407 (GRCm39)	E612G	probably benign	Het
Nav1	A	T	1: 135,378,368 (GRCm39)	I1653K	probably damaging	Het
Neb	T	C	2: 52,167,482 (GRCm39)	E1948G	probably damaging	Het
Ntsr1	T	C	2: 180,184,499 (GRCm39)	F401L	probably benign	Het
Nup210	A	T	6: 90,997,162 (GRCm39)	D1626E	probably benign	Het
Or10q12	A	G	19: 13,746,428 (GRCm39)	R241G	probably damaging	Het
Or4k35	A	G	2: 111,100,571 (GRCm39)	V47A	probably benign	Het
Or8g26	A	G	9: 39,096,361 (GRCm39)	R293G	probably damaging	Het
Pign	A	G	1: 105,577,006 (GRCm39)		probably null	Het
Rad54l2	A	G	9: 106,570,726 (GRCm39)	V1198A	probably benign	Het
Skint10	A	T	4: 112,603,936 (GRCm39)	W84R	probably damaging	Het
Slc40a1	G	T	1: 45,950,151 (GRCm39)	H434N	probably benign	Het
Trdv2-1	T	C	14: 54,183,995 (GRCm39)	Y76H	probably benign	Het
Trim43c	T	C	9: 88,727,030 (GRCm39)	S286P	probably benign	Het
Ttn	G	A	2: 76,575,558 (GRCm39)	P25112S	probably damaging	Het
Ubac1	C	T	2: 25,904,953 (GRCm39)	R95H	probably damaging	Het
Vps13d	A	G	4: 144,802,296 (GRCm39)	I405T	probably damaging	Het
Zc3hav1l	G	T	6: 38,272,060 (GRCm39)	S236R	probably damaging	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
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
R6309:Sh3tc2	UTSW	18	62,101,081 (GRCm39)	missense	probably damaging	0.98
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'- CAGAACGTCTGCAGCTCCTTTC -3'
(R):5'- AGTTTCCCTAACACATGGGC -3'

Sequencing Primer
(F):5'- GCAGCTCCTTTCTGGACAC -3'
(R):5'- TAACACATGGGCCTGGCTC -3'

Posted On

2015-01-23