Mutagenetix > Incidental Mutation

Incidental Mutation 'R1521:Sh3tc2'

167060

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc2

Ensembl Gene

ENSMUSG00000045629

Gene Name

SH3 domain and tetratricopeptide repeats 2

Synonyms

D430044G18Rik

MMRRC Submission

040870-MU

Accession Numbers

Genbank: NM_172628

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1521 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

61953075-62015715 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 62008488 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 1080 (E1080G)

Ref Sequence

ENSEMBL: ENSMUSP00000055094 (fasta)

Gene Model

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

AlphaFold

Q80VA5

Predicted Effect

probably damaging
Transcript: ENSMUST00000051720
AA Change: E1080G

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000055094
Gene: ENSMUSG00000045629
AA Change: E1080G

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

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.6%

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: 118 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adat1	A	G	8: 111,987,235 (GRCm38)	L104P	possibly damaging	Het
Adgrf5	T	C	17: 43,430,552 (GRCm38)	V360A	probably benign	Het
Ahnak	G	A	19: 9,004,728 (GRCm38)	M1125I	probably benign	Het
Akap12	T	C	10: 4,354,804 (GRCm38)	V538A	probably benign	Het
Arhgef10l	T	C	4: 140,515,438 (GRCm38)	D1088G	possibly damaging	Het
Atp7b	A	T	8: 22,027,673 (GRCm38)	L268Q	probably damaging	Het
Atxn2	A	C	5: 121,779,591 (GRCm38)	N516T	probably damaging	Het
Cacna1h	T	C	17: 25,397,354 (GRCm38)	M184V	possibly damaging	Het
Cacnb2	G	T	2: 14,614,352 (GRCm38)	R66L	probably benign	Het
Casp8ap2	A	G	4: 32,631,867 (GRCm38)	E96G	probably damaging	Het
Ccdc78	G	T	17: 25,788,781 (GRCm38)	R264L	probably damaging	Het
Cdh4	G	A	2: 179,797,558 (GRCm38)	R166H	probably damaging	Het
Cog7	C	T	7: 121,930,574 (GRCm38)	D615N	possibly damaging	Het
Crtc2	T	C	3: 90,257,383 (GRCm38)	V115A	probably benign	Het
Crybg1	A	G	10: 43,998,416 (GRCm38)	S899P	probably damaging	Het
Ctdnep1	T	A	11: 69,988,635 (GRCm38)	V128E	probably damaging	Het
Ctnna3	A	G	10: 64,959,842 (GRCm38)	K780E	probably benign	Het
Cul7	T	A	17: 46,663,190 (GRCm38)	L1467H	probably damaging	Het
Dazap2	T	A	15: 100,618,065 (GRCm38)	Y91*	probably null	Het
Dcdc5	T	C	2: 106,351,669 (GRCm38)		noncoding transcript	Het
Dppa1	T	A	11: 46,610,473 (GRCm38)	R74S	possibly damaging	Het
Elovl1	A	T	4: 118,432,000 (GRCm38)	T241S	probably benign	Het
Eya1	G	T	1: 14,274,550 (GRCm38)	Q86K	probably damaging	Het
Fam71a	T	A	1: 191,164,022 (GRCm38)	R141S	probably benign	Het
Fancm	A	T	12: 65,121,704 (GRCm38)	M1614L	probably benign	Het
Fcgbp	C	T	7: 28,075,160 (GRCm38)	T53I	probably benign	Het
Fpr3	T	A	17: 17,971,015 (GRCm38)	W183R	probably damaging	Het
Galnt13	G	A	2: 54,854,645 (GRCm38)	V119I	probably benign	Het
Gcfc2	T	C	6: 81,923,812 (GRCm38)	S36P	probably benign	Het
Gdap2	T	A	3: 100,194,615 (GRCm38)	D412E	possibly damaging	Het
Gm10184	T	A	17: 89,910,306 (GRCm38)	N4I	possibly damaging	Het
Gm12258	T	C	11: 58,859,555 (GRCm38)	C41R	probably damaging	Het
Grrp1	T	C	4: 134,251,350 (GRCm38)	*272W	probably null	Het
Hipk1	T	G	3: 103,777,782 (GRCm38)	E172D	probably benign	Het
Hmgcs1	T	G	13: 119,703,591 (GRCm38)	L326R	probably benign	Het
Hs6st1	C	A	1: 36,068,886 (GRCm38)	R77S	probably damaging	Het
Ifit3	A	T	19: 34,587,173 (GRCm38)	N40Y	probably damaging	Het
Il1a	T	A	2: 129,304,741 (GRCm38)	Q144L	possibly damaging	Het
Itga7	A	G	10: 128,957,811 (GRCm38)	E1128G	possibly damaging	Het
Itih2	T	C	2: 10,106,747 (GRCm38)	D460G	probably damaging	Het
Ivns1abp	G	A	1: 151,351,558 (GRCm38)	C39Y	probably damaging	Het
Kif22	G	T	7: 127,027,839 (GRCm38)	A646E	probably damaging	Het
Klhl29	T	C	12: 5,091,307 (GRCm38)	Y559C	probably damaging	Het
Klhl7	T	A	5: 24,149,110 (GRCm38)		probably null	Het
Klhl9	A	G	4: 88,721,993 (GRCm38)	S4P	probably benign	Het
Klk10	A	G	7: 43,782,880 (GRCm38)	Q79R	probably benign	Het
Klk6	T	C	7: 43,829,275 (GRCm38)		probably null	Het
Lamc2	C	T	1: 153,166,263 (GRCm38)	E42K	probably benign	Het
Lingo3	T	C	10: 80,835,721 (GRCm38)	D125G	probably benign	Het
Map1b	T	C	13: 99,432,739 (GRCm38)	N1158S	unknown	Het
Masp1	T	A	16: 23,494,637 (GRCm38)	N183Y	probably damaging	Het
Mdga2	A	G	12: 66,568,926 (GRCm38)	Y636H	probably benign	Het
Micalcl	T	A	7: 112,381,610 (GRCm38)	S264T	probably damaging	Het
Mif	A	G	10: 75,859,541 (GRCm38)	V95A	possibly damaging	Het
Mmp17	G	A	5: 129,595,088 (GRCm38)		probably null	Het
Mmp23	T	C	4: 155,650,717 (GRCm38)	R390G	possibly damaging	Het
Ncoa6	A	C	2: 155,415,222 (GRCm38)	S800R	possibly damaging	Het
Nfix	G	A	8: 84,726,526 (GRCm38)	R300C	probably damaging	Het
Nr2e3	A	T	9: 59,949,205 (GRCm38)	S67R	probably damaging	Het
Odf2l	T	C	3: 145,149,036 (GRCm38)	S545P	possibly damaging	Het
Olfr1256	G	A	2: 89,835,172 (GRCm38)	R258*	probably null	Het
Olfr172	C	T	16: 58,760,853 (GRCm38)	E108K	probably damaging	Het
Olfr591	T	A	7: 103,173,451 (GRCm38)	Y62F	probably benign	Het
Olfr845	C	T	9: 19,338,652 (GRCm38)	S64F	probably benign	Het
Olfr872	A	C	9: 20,260,432 (GRCm38)	Q197H	possibly damaging	Het
Olfr916	T	G	9: 38,657,718 (GRCm38)	I225L	probably damaging	Het
Olfr958	A	T	9: 39,550,784 (GRCm38)	V29E	possibly damaging	Het
Otog	A	T	7: 46,259,264 (GRCm38)	H562L	possibly damaging	Het
Pcdh15	T	C	10: 74,594,191 (GRCm38)	V1250A	probably damaging	Het
Pde1c	A	G	6: 56,173,607 (GRCm38)	V309A	possibly damaging	Het
Pfkfb4	A	C	9: 109,007,305 (GRCm38)	T134P	probably damaging	Het
Phc3	G	T	3: 30,936,575 (GRCm38)	Q498K	possibly damaging	Het
Phlpp1	T	C	1: 106,392,319 (GRCm38)	V1348A	probably damaging	Het
Pik3ap1	T	C	19: 41,321,558 (GRCm38)	D441G	probably damaging	Het
Pkd1l2	T	C	8: 117,065,500 (GRCm38)		probably null	Het
Pla2g4a	T	C	1: 149,857,686 (GRCm38)		probably null	Het
Pola2	A	T	19: 5,948,406 (GRCm38)	I376N	probably damaging	Het
Pold2	T	A	11: 5,876,833 (GRCm38)	N34Y	probably damaging	Het
Ppp2r5c	T	C	12: 110,554,886 (GRCm38)	L281P	probably damaging	Het
Prss46	A	G	9: 110,849,635 (GRCm38)	I29V	probably benign	Het
Ranbp6	A	T	19: 29,811,446 (GRCm38)	V502E	probably benign	Het
Rdh14	T	C	12: 10,394,613 (GRCm38)	F155L	probably damaging	Het
Rnaseh2a	A	T	8: 84,965,858 (GRCm38)		probably null	Het
Rpp30	A	G	19: 36,094,385 (GRCm38)	T118A	possibly damaging	Het
Rragd	T	C	4: 32,996,005 (GRCm38)	F117L	probably damaging	Het
S100a2	T	A	3: 90,591,292 (GRCm38)		probably null	Het
Sept12	T	C	16: 4,996,476 (GRCm38)	K43R	probably damaging	Het
Slc26a9	A	G	1: 131,750,677 (GRCm38)	K27R	probably damaging	Het
Spata17	T	A	1: 187,193,994 (GRCm38)	K46N	probably damaging	Het
St14	A	C	9: 31,108,215 (GRCm38)	D103E	probably benign	Het
St6galnac2	T	A	11: 116,684,347 (GRCm38)	Q222L	possibly damaging	Het
Tdrd9	T	C	12: 112,036,410 (GRCm38)	V831A	probably damaging	Het
Tert	A	G	13: 73,642,056 (GRCm38)	E843G	probably damaging	Het
Tex21	A	G	12: 76,204,270 (GRCm38)	V464A	probably benign	Het
Tmem232	T	A	17: 65,484,501 (GRCm38)	H124L	probably damaging	Het
Tmem5	A	G	10: 122,090,479 (GRCm38)	W243R	probably damaging	Het
Tnfrsf19	T	G	14: 61,005,106 (GRCm38)	S110R	probably damaging	Het
Tnnt3	A	T	7: 142,515,825 (GRCm38)	K272*	probably null	Het
Tnxb	T	C	17: 34,711,503 (GRCm38)	L2054P	probably damaging	Het
Trcg1	A	C	9: 57,242,465 (GRCm38)	D440A	probably benign	Het
Trpm3	A	G	19: 22,901,221 (GRCm38)	E504G	probably damaging	Het
Trpm5	C	T	7: 143,082,889 (GRCm38)	R437H	probably benign	Het
Ttn	T	C	2: 76,741,167 (GRCm38)	R18134G	probably damaging	Het
Uchl5	A	C	1: 143,798,422 (GRCm38)	M64L	possibly damaging	Het
Urb1	G	A	16: 90,753,863 (GRCm38)	R2034W	probably damaging	Het
Usp44	T	A	10: 93,847,186 (GRCm38)	C452*	probably null	Het
Uvssa	G	A	5: 33,413,934 (GRCm38)	A641T	probably damaging	Het
Vmn1r204	T	A	13: 22,557,078 (GRCm38)	I293N	probably benign	Het
Vmn2r84	A	T	10: 130,389,268 (GRCm38)	C458S	probably benign	Het
Vmn2r85	T	G	10: 130,425,919 (GRCm38)	H183P	probably damaging	Het
Vps13d	G	T	4: 145,105,861 (GRCm38)	T2825K	probably benign	Het
Zc3hc1	T	A	6: 30,376,025 (GRCm38)	I179F	probably benign	Het
Zfp112	A	G	7: 24,125,785 (GRCm38)	N393D	probably damaging	Het
Zfp558	A	G	9: 18,456,563 (GRCm38)	S310P	possibly damaging	Het
Zfp560	A	C	9: 20,348,775 (GRCm38)		probably null	Het
Zfp668	C	T	7: 127,867,080 (GRCm38)	E311K	probably benign	Het
Zfp763	T	A	17: 33,033,302 (GRCm38)	M1L	probably benign	Het
Zfp947	A	T	17: 22,145,832 (GRCm38)	M287K	probably benign	Het

Other mutations in Sh3tc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01146:Sh3tc2	APN	18	61,989,511 (GRCm38)	missense	probably damaging	1.00
IGL01523:Sh3tc2	APN	18	61,990,883 (GRCm38)	missense	probably benign	0.00
IGL02036:Sh3tc2	APN	18	62,014,907 (GRCm38)	missense	probably benign	0.17
IGL02189:Sh3tc2	APN	18	61,990,622 (GRCm38)	missense	probably benign	0.00
IGL02555:Sh3tc2	APN	18	61,990,237 (GRCm38)	missense	probably damaging	0.99
IGL02827:Sh3tc2	APN	18	62,013,159 (GRCm38)	missense	probably benign	0.34
IGL03033:Sh3tc2	APN	18	61,974,478 (GRCm38)	missense	possibly damaging	0.90
IGL03040:Sh3tc2	APN	18	61,989,410 (GRCm38)	missense	probably benign	0.00
IGL03062:Sh3tc2	APN	18	62,011,880 (GRCm38)	missense	probably damaging	1.00
IGL03386:Sh3tc2	APN	18	61,973,311 (GRCm38)	missense	probably benign	0.39
3-1:Sh3tc2	UTSW	18	61,991,138 (GRCm38)	missense	probably damaging	1.00
R1085:Sh3tc2	UTSW	18	62,014,996 (GRCm38)	missense	probably benign	0.01
R1166:Sh3tc2	UTSW	18	61,991,176 (GRCm38)	missense	probably damaging	0.99
R1182:Sh3tc2	UTSW	18	61,968,100 (GRCm38)	missense	probably benign	0.17
R1636:Sh3tc2	UTSW	18	61,989,721 (GRCm38)	missense	probably damaging	0.98
R1872:Sh3tc2	UTSW	18	62,011,883 (GRCm38)	missense	probably damaging	1.00
R1884:Sh3tc2	UTSW	18	62,008,575 (GRCm38)	missense	probably damaging	1.00
R1964:Sh3tc2	UTSW	18	61,991,155 (GRCm38)	nonsense	probably null
R2034:Sh3tc2	UTSW	18	61,987,666 (GRCm38)	missense	probably damaging	1.00
R2046:Sh3tc2	UTSW	18	61,990,843 (GRCm38)	missense	probably benign
R2113:Sh3tc2	UTSW	18	62,013,105 (GRCm38)	missense	probably damaging	1.00
R2363:Sh3tc2	UTSW	18	61,990,895 (GRCm38)	missense	probably benign	0.07
R2940:Sh3tc2	UTSW	18	61,989,686 (GRCm38)	missense	probably damaging	1.00
R2979:Sh3tc2	UTSW	18	61,989,485 (GRCm38)	missense	probably damaging	1.00
R3717:Sh3tc2	UTSW	18	61,990,343 (GRCm38)	missense	probably benign	0.04
R3718:Sh3tc2	UTSW	18	61,990,343 (GRCm38)	missense	probably benign	0.04
R4334:Sh3tc2	UTSW	18	61,990,321 (GRCm38)	missense	probably damaging	1.00
R4454:Sh3tc2	UTSW	18	62,007,773 (GRCm38)	missense	probably damaging	1.00
R4503:Sh3tc2	UTSW	18	61,974,623 (GRCm38)	missense	probably damaging	0.96
R4515:Sh3tc2	UTSW	18	61,987,693 (GRCm38)	splice site	probably null
R4659:Sh3tc2	UTSW	18	61,974,509 (GRCm38)	missense	probably benign	0.00
R4859:Sh3tc2	UTSW	18	62,013,093 (GRCm38)	missense	probably benign	0.00
R4901:Sh3tc2	UTSW	18	61,990,435 (GRCm38)	missense	probably benign	0.03
R5033:Sh3tc2	UTSW	18	62,014,891 (GRCm38)	splice site	probably null
R5269:Sh3tc2	UTSW	18	61,975,613 (GRCm38)	missense	probably benign	0.00
R5439:Sh3tc2	UTSW	18	61,989,633 (GRCm38)	nonsense	probably null
R5467:Sh3tc2	UTSW	18	61,990,688 (GRCm38)	missense	possibly damaging	0.81
R5468:Sh3tc2	UTSW	18	61,973,431 (GRCm38)	critical splice donor site	probably null
R5527:Sh3tc2	UTSW	18	62,011,861 (GRCm38)	missense	probably benign	0.00
R5829:Sh3tc2	UTSW	18	61,990,915 (GRCm38)	missense	probably benign	0.19
R5880:Sh3tc2	UTSW	18	61,973,311 (GRCm38)	missense	probably benign	0.39
R5948:Sh3tc2	UTSW	18	62,013,105 (GRCm38)	missense	probably damaging	1.00
R5951:Sh3tc2	UTSW	18	61,990,007 (GRCm38)	missense	probably damaging	1.00
R5973:Sh3tc2	UTSW	18	61,977,904 (GRCm38)	missense	probably benign	0.06
R5995:Sh3tc2	UTSW	18	61,990,010 (GRCm38)	missense	probably damaging	0.96
R6309:Sh3tc2	UTSW	18	61,968,010 (GRCm38)	missense	probably damaging	0.98
R6339:Sh3tc2	UTSW	18	61,975,571 (GRCm38)	nonsense	probably null
R6648:Sh3tc2	UTSW	18	62,015,040 (GRCm38)	missense	probably benign	0.00
R6723:Sh3tc2	UTSW	18	61,977,954 (GRCm38)	missense	probably damaging	1.00
R6752:Sh3tc2	UTSW	18	61,961,037 (GRCm38)	missense	probably benign	0.00
R7211:Sh3tc2	UTSW	18	61,989,403 (GRCm38)	missense	probably benign
R7367:Sh3tc2	UTSW	18	61,989,506 (GRCm38)	missense	probably benign	0.00
R7664:Sh3tc2	UTSW	18	62,014,971 (GRCm38)	nonsense	probably null
R7727:Sh3tc2	UTSW	18	61,989,580 (GRCm38)	missense	probably benign	0.02
R7823:Sh3tc2	UTSW	18	61,953,117 (GRCm38)	start codon destroyed	probably null	1.00
R8191:Sh3tc2	UTSW	18	61,973,358 (GRCm38)	missense	probably damaging	1.00
R8204:Sh3tc2	UTSW	18	61,953,129 (GRCm38)	missense	probably damaging	1.00
R8219:Sh3tc2	UTSW	18	62,011,861 (GRCm38)	missense	probably benign	0.00
R8260:Sh3tc2	UTSW	18	62,013,066 (GRCm38)	missense	probably damaging	1.00
R8413:Sh3tc2	UTSW	18	62,015,071 (GRCm38)	missense	probably benign	0.30
R8413:Sh3tc2	UTSW	18	61,990,802 (GRCm38)	missense	probably damaging	1.00
R9034:Sh3tc2	UTSW	18	61,974,500 (GRCm38)	missense	probably benign	0.07
R9043:Sh3tc2	UTSW	18	61,989,890 (GRCm38)	missense	possibly damaging	0.89
R9218:Sh3tc2	UTSW	18	61,968,030 (GRCm38)	missense	probably benign	0.09
R9249:Sh3tc2	UTSW	18	61,974,527 (GRCm38)	missense	possibly damaging	0.52
Z1176:Sh3tc2	UTSW	18	61,989,909 (GRCm38)	nonsense	probably null
Z1177:Sh3tc2	UTSW	18	62,014,991 (GRCm38)	missense	probably damaging	0.96
Z1177:Sh3tc2	UTSW	18	61,991,318 (GRCm38)	missense	probably benign	0.09
Z1177:Sh3tc2	UTSW	18	61,989,688 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ATCCCACACGGGACTTTCGGATAG -3'
(R):5'- GTGGCATCCAGGCTCATATCTCAAG -3'

Sequencing Primer
(F):5'- CGGGACTTTCGGATAGATCTCATC -3'
(R):5'- GGCTCATATCTCAAGCCAAAGAG -3'

Posted On

2014-04-13