Mutagenetix > Incidental Mutation

Incidental Mutation 'R7502:Sh3tc1'

581539

Institutional Source

Beutler Lab

Gene Symbol

Sh3tc1

Ensembl Gene

ENSMUSG00000036553

Gene Name

SH3 domain and tetratricopeptide repeats 1

Synonyms

MMRRC Submission

045575-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R7502 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35854524-35897331 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 35863406 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 927 (G927D)

Ref Sequence

ENSEMBL: ENSMUSP00000070610 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070203] [ENSMUST00000129664] [ENSMUST00000201511]

AlphaFold

G3X9F6

Predicted Effect

probably damaging
Transcript: ENSMUST00000070203
AA Change: G927D

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

SMART Domains

Protein: ENSMUSP00000070610
Gene: ENSMUSG00000036553
AA Change: G927D

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	101	117	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC
SH3	312	371	1.72e-6	SMART
low complexity region	381	397	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
TPR	565	598	3.41e1	SMART
Blast:TPR	607	639	2e-6	BLAST
TPR	668	701	3.37e-2	SMART
TPR	796	829	6.4e1	SMART
Blast:TPR	874	902	2e-6	BLAST
TPR	913	946	9.99e1	SMART
TPR	1202	1235	4.31e0	SMART
low complexity region	1266	1277	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127288

Predicted Effect

SMART Domains

Protein: ENSMUSP00000115376
Gene: ENSMUSG00000036553
AA Change: G865D

Domain	Start	End	E-Value	Type
low complexity region	40	56	N/A	INTRINSIC
low complexity region	209	217	N/A	INTRINSIC
SH3	251	310	1.72e-6	SMART
low complexity region	320	336	N/A	INTRINSIC
low complexity region	361	373	N/A	INTRINSIC
low complexity region	480	491	N/A	INTRINSIC
TPR	504	537	3.41e1	SMART
Blast:TPR	546	578	2e-6	BLAST
TPR	607	640	3.37e-2	SMART
TPR	735	768	6.4e1	SMART
Blast:TPR	813	841	2e-6	BLAST
TPR	852	885	9.99e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129664

SMART Domains

Protein: ENSMUSP00000119811
Gene: ENSMUSG00000036553

Domain	Start	End	E-Value	Type
low complexity region	34	42	N/A	INTRINSIC
SH3	76	130	2.41e-1	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000201511
AA Change: G927D

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

SMART Domains

Protein: ENSMUSP00000144175
Gene: ENSMUSG00000036553
AA Change: G927D

Domain	Start	End	E-Value	Type
low complexity region	6	15	N/A	INTRINSIC
low complexity region	101	117	N/A	INTRINSIC
low complexity region	270	278	N/A	INTRINSIC
SH3	312	371	1.72e-6	SMART
low complexity region	381	397	N/A	INTRINSIC
low complexity region	422	434	N/A	INTRINSIC
low complexity region	541	552	N/A	INTRINSIC
TPR	565	598	3.41e1	SMART
Blast:TPR	607	639	2e-6	BLAST
TPR	668	701	3.37e-2	SMART
TPR	796	829	6.4e1	SMART
Blast:TPR	874	902	2e-6	BLAST
TPR	913	946	9.99e1	SMART
TPR	1202	1235	4.31e0	SMART
low complexity region	1266	1277	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,743,951 (GRCm39)	T661A	probably damaging	Het
Actrt2	T	C	4: 154,751,383 (GRCm39)	Y251C	probably benign	Het
Adat3	T	A	10: 80,442,255 (GRCm39)	V31D	probably damaging	Het
Adgrf4	T	C	17: 42,980,548 (GRCm39)	H179R	possibly damaging	Het
Ahcyl1	A	T	3: 107,578,513 (GRCm39)	Y241*	probably null	Het
Anks1	C	A	17: 28,227,114 (GRCm39)	T589K	possibly damaging	Het
Arhgap15	A	G	2: 43,670,630 (GRCm39)	T5A	probably benign	Het
Cacna1e	A	T	1: 154,344,734 (GRCm39)	M1130K	probably null	Het
Ccdc121rt1	G	A	1: 181,338,443 (GRCm39)	Q170*	probably null	Het
Ceacam18	A	T	7: 43,286,298 (GRCm39)	D57V	probably damaging	Het
Celf1	C	T	2: 90,835,100 (GRCm39)	Q194*	probably null	Het
Celsr2	T	A	3: 108,306,218 (GRCm39)	T2029S	probably benign	Het
Cep170	T	C	1: 176,583,595 (GRCm39)	D163G	probably damaging	Het
Cfap210	A	T	2: 69,606,488 (GRCm39)	D309E	probably benign	Het
Cftr	T	C	6: 18,214,295 (GRCm39)	F157S	probably damaging	Het
Chchd3	T	C	6: 32,945,164 (GRCm39)	E114G	probably damaging	Het
Cntnap2	T	A	6: 46,460,963 (GRCm39)	S666R	possibly damaging	Het
Col6a5	C	T	9: 105,753,075 (GRCm39)	V2266I	probably benign	Het
Ctr9	A	G	7: 110,633,133 (GRCm39)	D127G	probably benign	Het
Ctsl	A	T	13: 64,514,882 (GRCm39)	F141I	probably damaging	Het
Dcpp1	T	A	17: 24,101,615 (GRCm39)	Y121*	probably null	Het
Ddx42	T	C	11: 106,138,565 (GRCm39)	V788A	probably benign	Het
Ehd4	T	C	2: 119,921,874 (GRCm39)	I461V	probably benign	Het
Elp6	C	A	9: 110,134,376 (GRCm39)	L5I	possibly damaging	Het
Faap20	T	C	4: 155,334,793 (GRCm39)	S2P		Het
Fam98b	A	C	2: 117,094,344 (GRCm39)	Y218S	probably damaging	Het
Fbxl4	T	A	4: 22,376,655 (GRCm39)	D30E	probably benign	Het
Fcrlb	T	C	1: 170,736,210 (GRCm39)	T189A	probably damaging	Het
Gfpt1	A	G	6: 87,043,671 (GRCm39)	D302G	probably benign	Het
Gzmg	T	G	14: 56,394,284 (GRCm39)	E203D	not run	Het
Hsph1	A	C	5: 149,553,838 (GRCm39)	V210G	probably damaging	Het
Il20rb	A	T	9: 100,350,479 (GRCm39)	M138K	probably damaging	Het
Itpr1	A	T	6: 108,360,639 (GRCm39)	E688D	probably benign	Het
Jmjd1c	T	G	10: 67,067,794 (GRCm39)	S1585A	probably damaging	Het
Kcnk3	A	T	5: 30,780,062 (GRCm39)	T371S	possibly damaging	Het
Kif11	T	A	19: 37,398,255 (GRCm39)	S694T	possibly damaging	Het
Kpna7	T	A	5: 144,942,731 (GRCm39)	H85L	probably benign	Het
Lipf	A	T	19: 33,954,006 (GRCm39)	I366F	probably damaging	Het
Lrrc27	A	G	7: 138,794,748 (GRCm39)	H37R	probably benign	Het
Mki67	T	C	7: 135,302,512 (GRCm39)	T841A	possibly damaging	Het
Mtss1	A	G	15: 58,820,210 (GRCm39)	S120P	probably damaging	Het
Nav1	A	G	1: 135,397,404 (GRCm39)	W922R	probably damaging	Het
Nwd1	A	G	8: 73,434,021 (GRCm39)	E1206G	probably damaging	Het
Obscn	T	C	11: 58,885,635 (GRCm39)	S7933G	unknown	Het
Or13j1	T	C	4: 43,706,316 (GRCm39)	H84R	probably damaging	Het
Or1p4-ps1	T	C	11: 74,208,010 (GRCm39)	V53A	probably benign	Het
Or2g25	T	A	17: 37,971,122 (GRCm39)	Y34F	probably damaging	Het
Or2k2	T	C	4: 58,785,648 (GRCm39)	I25V	probably benign	Het
Or4c52	T	C	2: 89,845,355 (GRCm39)	L27S	probably benign	Het
Otog	A	T	7: 45,948,039 (GRCm39)	I162F	probably damaging	Het
Paf1	G	A	7: 28,095,293 (GRCm39)	V153I	possibly damaging	Het
Pcdhga11	T	A	18: 37,889,554 (GRCm39)	D187E	probably benign	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Pitrm1	G	T	13: 6,610,658 (GRCm39)	R424L	probably damaging	Het
Pla2g4e	T	A	2: 120,004,819 (GRCm39)		probably null	Het
Plaat1	T	C	16: 29,046,919 (GRCm39)	V146A	probably benign	Het
Prorp	T	C	12: 55,351,206 (GRCm39)	Y172H	probably damaging	Het
Prrc2a	T	C	17: 35,381,286 (GRCm39)	N61S	unknown	Het
Ror1	T	A	4: 100,190,827 (GRCm39)	D61E	probably benign	Het
Ryr3	G	A	2: 112,542,706 (GRCm39)	P3168S	probably benign	Het
Serinc4	T	A	2: 121,284,250 (GRCm39)	I289F	probably damaging	Het
Sez6l	A	T	5: 112,623,347 (GRCm39)	L68H	possibly damaging	Het
Sez6l2	A	G	7: 126,560,915 (GRCm39)	E460G	probably benign	Het
Slc22a27	G	C	19: 7,903,747 (GRCm39)	T130S	probably damaging	Het
Slc38a8	C	A	8: 120,227,820 (GRCm39)	A37S	possibly damaging	Het
Slc40a1	T	C	1: 45,958,134 (GRCm39)	N100D	probably damaging	Het
Slc49a3	G	A	5: 108,591,646 (GRCm39)		probably null	Het
Snx30	T	C	4: 59,894,567 (GRCm39)	F382L	possibly damaging	Het
Sox1	A	G	8: 12,446,913 (GRCm39)	N185D	possibly damaging	Het
Spsb1	C	T	4: 149,991,385 (GRCm39)	R61H	possibly damaging	Het
Sptbn2	T	C	19: 4,798,110 (GRCm39)	V1945A	probably benign	Het
St18	T	A	1: 6,898,194 (GRCm39)	N665K	probably benign	Het
Syne1	A	G	10: 5,283,446 (GRCm39)	S1540P	probably damaging	Het
Syne2	G	A	12: 76,141,100 (GRCm39)	V1331M	probably damaging	Het
Tfap2c	T	C	2: 172,393,639 (GRCm39)	S185P	probably benign	Het
Tnfsf8	T	A	4: 63,769,398 (GRCm39)	D71V	probably damaging	Het
Tnn	T	C	1: 159,937,929 (GRCm39)	D1196G	probably benign	Het
Ttll8	A	G	15: 88,817,639 (GRCm39)		probably null	Het
Tubgcp3	A	G	8: 12,691,207 (GRCm39)	F444L	probably damaging	Het
Txndc11	G	A	16: 10,905,742 (GRCm39)	P596L	probably benign	Het
Ubr4	C	T	4: 139,139,983 (GRCm39)	P1189S	possibly damaging	Het
Usp32	T	C	11: 84,913,724 (GRCm39)	D869G	possibly damaging	Het
Vmn1r202	G	T	13: 22,686,188 (GRCm39)	N76K	probably damaging	Het
Wfdc6a	C	T	2: 164,421,761 (GRCm39)	M132I	probably benign	Het
Wnk2	A	T	13: 49,300,720 (GRCm39)		probably null	Het
Xbp1	A	G	11: 5,474,683 (GRCm39)		probably null	Het
Zfp551	A	T	7: 12,149,725 (GRCm39)	Y561*	probably null	Het

Other mutations in Sh3tc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00234:Sh3tc1	APN	5	35,868,301 (GRCm39)	missense	probably damaging	1.00
IGL01019:Sh3tc1	APN	5	35,860,719 (GRCm39)	missense	probably damaging	1.00
IGL01725:Sh3tc1	APN	5	35,857,660 (GRCm39)	missense	probably benign	0.08
IGL02069:Sh3tc1	APN	5	35,876,339 (GRCm39)	missense	probably benign	0.45
IGL02153:Sh3tc1	APN	5	35,860,696 (GRCm39)	missense	probably damaging	1.00
IGL02269:Sh3tc1	APN	5	35,863,628 (GRCm39)	missense	probably benign	0.21
IGL02609:Sh3tc1	APN	5	35,864,516 (GRCm39)	missense	probably damaging	0.99
IGL02984:Sh3tc1	UTSW	5	35,871,403 (GRCm39)	splice site	probably null
R0280:Sh3tc1	UTSW	5	35,863,361 (GRCm39)	missense	probably damaging	1.00
R0305:Sh3tc1	UTSW	5	35,881,343 (GRCm39)	missense	probably benign
R0322:Sh3tc1	UTSW	5	35,863,905 (GRCm39)	missense	possibly damaging	0.86
R0485:Sh3tc1	UTSW	5	35,859,356 (GRCm39)	splice site	probably benign
R0511:Sh3tc1	UTSW	5	35,860,806 (GRCm39)	missense	probably damaging	1.00
R0513:Sh3tc1	UTSW	5	35,857,651 (GRCm39)	missense	possibly damaging	0.87
R0523:Sh3tc1	UTSW	5	35,881,410 (GRCm39)	small deletion	probably benign
R0550:Sh3tc1	UTSW	5	35,857,128 (GRCm39)	missense	probably damaging	0.99
R0676:Sh3tc1	UTSW	5	35,876,458 (GRCm39)	splice site	probably benign
R1485:Sh3tc1	UTSW	5	35,876,370 (GRCm39)	missense	probably benign	0.00
R1559:Sh3tc1	UTSW	5	35,860,693 (GRCm39)	critical splice donor site	probably null
R1599:Sh3tc1	UTSW	5	35,864,856 (GRCm39)	missense	probably benign	0.05
R1759:Sh3tc1	UTSW	5	35,863,248 (GRCm39)	missense	possibly damaging	0.95
R1808:Sh3tc1	UTSW	5	35,863,268 (GRCm39)	missense	probably benign	0.01
R1816:Sh3tc1	UTSW	5	35,857,928 (GRCm39)	critical splice donor site	probably null
R2036:Sh3tc1	UTSW	5	35,873,508 (GRCm39)	missense	probably benign	0.01
R2092:Sh3tc1	UTSW	5	35,858,002 (GRCm39)	missense	probably damaging	1.00
R2944:Sh3tc1	UTSW	5	35,871,504 (GRCm39)	missense	probably damaging	1.00
R4258:Sh3tc1	UTSW	5	35,864,322 (GRCm39)	missense	probably benign	0.00
R4556:Sh3tc1	UTSW	5	35,864,426 (GRCm39)	missense	probably damaging	1.00
R4647:Sh3tc1	UTSW	5	35,863,662 (GRCm39)	missense	probably damaging	1.00
R5011:Sh3tc1	UTSW	5	35,857,633 (GRCm39)	missense	probably damaging	1.00
R5740:Sh3tc1	UTSW	5	35,864,399 (GRCm39)	missense	probably benign	0.00
R6023:Sh3tc1	UTSW	5	35,864,295 (GRCm39)	nonsense	probably null
R6164:Sh3tc1	UTSW	5	35,863,590 (GRCm39)	missense	probably benign	0.05
R6262:Sh3tc1	UTSW	5	35,857,117 (GRCm39)	missense	probably damaging	1.00
R6433:Sh3tc1	UTSW	5	35,863,941 (GRCm39)	missense	probably damaging	0.99
R6932:Sh3tc1	UTSW	5	35,864,778 (GRCm39)	missense	probably benign	0.01
R6986:Sh3tc1	UTSW	5	35,881,288 (GRCm39)	missense	probably benign
R7098:Sh3tc1	UTSW	5	35,859,358 (GRCm39)	splice site	probably null
R7737:Sh3tc1	UTSW	5	35,881,297 (GRCm39)	missense	probably benign	0.15
R7792:Sh3tc1	UTSW	5	35,868,295 (GRCm39)	missense	probably damaging	0.97
R8079:Sh3tc1	UTSW	5	35,864,201 (GRCm39)	missense	possibly damaging	0.78
R8154:Sh3tc1	UTSW	5	35,875,696 (GRCm39)	missense	probably damaging	1.00
R8267:Sh3tc1	UTSW	5	35,863,751 (GRCm39)	missense	probably benign	0.01
R8300:Sh3tc1	UTSW	5	35,854,792 (GRCm39)	missense	probably benign	0.00
R8416:Sh3tc1	UTSW	5	35,868,256 (GRCm39)	missense	probably damaging	0.99
R8459:Sh3tc1	UTSW	5	35,878,933 (GRCm39)	missense	probably benign
R8699:Sh3tc1	UTSW	5	35,859,235 (GRCm39)	missense	probably damaging	1.00
R8754:Sh3tc1	UTSW	5	35,863,802 (GRCm39)	missense	probably benign	0.07
R8782:Sh3tc1	UTSW	5	35,871,548 (GRCm39)	missense	possibly damaging	0.93
R9044:Sh3tc1	UTSW	5	35,854,834 (GRCm39)	missense	possibly damaging	0.84
R9047:Sh3tc1	UTSW	5	35,863,827 (GRCm39)	missense	probably benign
R9092:Sh3tc1	UTSW	5	35,874,321 (GRCm39)	missense	probably benign	0.00
R9771:Sh3tc1	UTSW	5	35,873,654 (GRCm39)	missense	probably damaging	1.00
X0061:Sh3tc1	UTSW	5	35,864,153 (GRCm39)	missense	probably damaging	1.00
Z1176:Sh3tc1	UTSW	5	35,871,573 (GRCm39)	missense	possibly damaging	0.62

Predicted Primers

PCR Primer
(F):5'- AGAAAGGCCCACTCGTAGTAG -3'
(R):5'- GCTTAGTAGCCATGGACATCCTG -3'

Sequencing Primer
(F):5'- GCCCACTCGTAGTAGCACTTAG -3'
(R):5'- TGGACATCCTGAAGTGCATC -3'

Posted On

2019-10-17