Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03386:Sh3tc2'

420875

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3tc2

Ensembl Gene

ENSMUSG00000045629

Gene Name

SH3 domain and tetratricopeptide repeats 2

Synonyms

D430044G18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL03386

Quality Score

Status

Chromosome

Chromosomal Location

62086002-62148790 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 62106382 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 137 (H137L)

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

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

AlphaFold

Q80VA5

Predicted Effect

probably benign
Transcript: ENSMUST00000051720
AA Change: H137L

PolyPhen 2 Score 0.390 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: H137L

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

Coding Region Coverage

Validation Efficiency

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,259,455 (GRCm39)	F236L	probably damaging	Het
AU018091	T	C	7: 3,211,107 (GRCm39)	Y274C	probably damaging	Het
BC024139	A	G	15: 76,005,945 (GRCm39)	F419L	probably benign	Het
Cd300ld	T	G	11: 114,874,998 (GRCm39)	D212A	probably benign	Het
Ces1g	T	C	8: 94,052,440 (GRCm39)	H283R	probably benign	Het
Chac2	T	A	11: 30,927,720 (GRCm39)	K66N	probably benign	Het
Emc1	T	C	4: 139,091,092 (GRCm39)		probably null	Het
Eml6	G	A	11: 29,699,934 (GRCm39)	A1734V	probably benign	Het
Erich3	G	A	3: 154,444,876 (GRCm39)	E548K	possibly damaging	Het
Gm3604	T	A	13: 62,517,981 (GRCm39)	E105D	possibly damaging	Het
Gpr158	A	G	2: 21,831,057 (GRCm39)	K719R	probably damaging	Het
Heatr6	T	C	11: 83,650,203 (GRCm39)	S220P	probably damaging	Het
Kcnip4	T	C	5: 48,639,889 (GRCm39)	Y74C	probably damaging	Het
Kmt2b	T	C	7: 30,273,396 (GRCm39)	H2380R	possibly damaging	Het
Lars2	A	T	9: 123,282,455 (GRCm39)	K680*	probably null	Het
Macc1	T	A	12: 119,409,598 (GRCm39)	M122K	probably benign	Het
Pbrm1	A	G	14: 30,772,049 (GRCm39)	D381G	probably damaging	Het
Phf11d	A	G	14: 59,599,309 (GRCm39)		probably benign	Het
Qrsl1	A	G	10: 43,752,546 (GRCm39)	Y426H	possibly damaging	Het
Riok1	T	A	13: 38,241,213 (GRCm39)	L456*	probably null	Het
Rps6kc1	A	G	1: 190,531,767 (GRCm39)	L745P	probably damaging	Het
Shoc1	T	C	4: 59,069,315 (GRCm39)	K704E	possibly damaging	Het
Shroom3	T	A	5: 93,096,342 (GRCm39)		probably benign	Het
Stac2	T	A	11: 97,931,966 (GRCm39)	Q103L	possibly damaging	Het
Thnsl1	G	A	2: 21,216,359 (GRCm39)	A38T	probably benign	Het
Traf3ip2	A	G	10: 39,521,704 (GRCm39)	I421V	probably benign	Het
Vmn2r14	T	C	5: 109,368,350 (GRCm39)	D214G	possibly 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
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
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

Posted On

2016-08-02