Mutagenetix > Incidental Mutation

Incidental Mutation 'R4872:Sh3bp1'

376690

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp1

Ensembl Gene

ENSMUSG00000022436

Gene Name

SH3-domain binding protein 1

Synonyms

3BP-1

MMRRC Submission

042482-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R4872 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

78783994-78796247 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 78792237 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 401 (A401S)

Ref Sequence

ENSEMBL: ENSMUSP00000154996 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000001226] [ENSMUST00000061239] [ENSMUST00000109698] [ENSMUST00000132047] [ENSMUST00000134703] [ENSMUST00000151146]

AlphaFold

P55194

Predicted Effect

probably benign
Transcript: ENSMUST00000001226
AA Change: A465S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000001226
Gene: ENSMUSG00000022436
AA Change: A465S

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	7e-37	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC
low complexity region	558	593	N/A	INTRINSIC
low complexity region	604	633	N/A	INTRINSIC
low complexity region	661	672	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000061239
AA Change: A465S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000052181
Gene: ENSMUSG00000022436
AA Change: A465S

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	2.2e-36	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000109698
AA Change: A465S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000105320
Gene: ENSMUSG00000022436
AA Change: A465S

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	2.2e-36	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000132047
AA Change: A465S

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000138598
Gene: ENSMUSG00000022436
AA Change: A465S

Domain	Start	End	E-Value	Type
Pfam:BAR	2	254	5.4e-36	PFAM
RhoGAP	287	466	2.04e-63	SMART
low complexity region	500	518	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000134703
AA Change: A401S

PolyPhen 2 Score 0.307 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150472

Predicted Effect

probably benign
Transcript: ENSMUST00000151146

SMART Domains

Protein: ENSMUSP00000138780
Gene: ENSMUSG00000022436

Domain	Start	End	E-Value	Type
Pfam:BAR	2	143	9e-22	PFAM
low complexity region	160	177	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229492

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229803

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231057

Meta Mutation Damage Score

0.2310

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.1%

Validation Efficiency

98% (81/83)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	C	A	15: 91,075,514 (GRCm39)	V100L	probably benign	Het
Acad11	G	A	9: 103,963,465 (GRCm39)		probably benign	Het
Actb	C	T	5: 142,891,307 (GRCm39)		probably benign	Het
Ano9	G	A	7: 140,687,117 (GRCm39)	A374V	probably damaging	Het
Baz2b	T	C	2: 59,773,103 (GRCm39)		probably null	Het
Bltp3a	G	T	17: 28,109,110 (GRCm39)	D1110Y	probably benign	Het
Bpifb9b	T	A	2: 154,155,551 (GRCm39)	L350Q	probably damaging	Het
Cd27	T	A	6: 125,211,281 (GRCm39)		probably null	Het
Cd72	A	G	4: 43,449,563 (GRCm39)		probably benign	Het
Cdadc1	A	T	14: 59,801,973 (GRCm39)	S516T	probably benign	Het
Chst5	T	A	8: 112,617,192 (GRCm39)	I143F	possibly damaging	Het
Col20a1	T	C	2: 180,639,156 (GRCm39)	V452A	possibly damaging	Het
Cox11	C	A	11: 90,535,229 (GRCm39)	Q227K	probably benign	Het
Cpa6	A	G	1: 10,665,843 (GRCm39)		probably null	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpm2	T	C	2: 32,461,203 (GRCm39)		probably benign	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Frem1	A	C	4: 82,881,387 (GRCm39)	N1273K	probably damaging	Het
Fry	T	C	5: 150,317,704 (GRCm39)		probably null	Het
Gm10306	G	T	4: 94,445,069 (GRCm39)		probably benign	Het
Gm5565	T	C	5: 146,094,913 (GRCm39)	T278A	probably benign	Het
Gm8180	A	G	14: 44,019,802 (GRCm39)	I40T	probably benign	Het
Iah1	T	C	12: 21,367,426 (GRCm39)	V44A	probably benign	Het
Iqgap3	C	T	3: 88,020,435 (GRCm39)	P360S	probably damaging	Het
Klhl28	T	A	12: 65,003,896 (GRCm39)	I206F	possibly damaging	Het
Krt13	A	G	11: 100,012,332 (GRCm39)		probably benign	Het
Lipo2	T	A	19: 33,726,914 (GRCm39)	D41V	probably benign	Het
Lrig2	C	G	3: 104,398,842 (GRCm39)	V229L	possibly damaging	Het
Lrrc32	C	T	7: 98,147,727 (GRCm39)	T169I	probably damaging	Het
Lrriq1	T	C	10: 103,014,649 (GRCm39)	N1053S	possibly damaging	Het
Mfng	C	T	15: 78,648,588 (GRCm39)	R163H	probably benign	Het
Mgat4c	G	C	10: 102,224,599 (GRCm39)	R271P	probably damaging	Het
Mylk	A	G	16: 34,735,360 (GRCm39)	N780S	possibly damaging	Het
N4bp1	T	C	8: 87,587,676 (GRCm39)	T421A	probably benign	Het
Nat8f1	T	C	6: 85,887,295 (GRCm39)	T222A	probably benign	Het
Nsun2	T	C	13: 69,691,992 (GRCm39)		probably benign	Het
Oas2	T	A	5: 120,876,599 (GRCm39)	D448V	probably damaging	Het
Or10al7	C	A	17: 38,366,467 (GRCm39)	V6F	probably benign	Het
Or2l13b	A	T	16: 19,349,383 (GRCm39)	C96S	probably damaging	Het
Or5ak22	T	C	2: 85,230,772 (GRCm39)	Y35C	probably damaging	Het
Pgm2l1	T	A	7: 99,877,204 (GRCm39)	L25Q	probably damaging	Het
Pigp	A	T	16: 94,166,309 (GRCm39)	V133D	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Pomt2	C	T	12: 87,156,881 (GRCm39)	D752N	possibly damaging	Het
Ppat	T	C	5: 77,074,640 (GRCm39)	K65E	probably damaging	Het
Ptprn2	T	C	12: 117,125,314 (GRCm39)	L616P	probably damaging	Het
Rad54l2	A	G	9: 106,595,091 (GRCm39)	S289P	probably damaging	Het
Rbm39	G	A	2: 156,019,266 (GRCm39)	R31C	possibly damaging	Het
Rhbdf2	C	A	11: 116,492,771 (GRCm39)	V417L	probably benign	Het
Rnf157	T	A	11: 116,246,298 (GRCm39)	E255D	possibly damaging	Het
Rpl6l	A	T	10: 110,962,304 (GRCm39)		noncoding transcript	Het
Sec24c	A	G	14: 20,743,813 (GRCm39)	D1006G	probably damaging	Het
Slc17a8	A	T	10: 89,412,367 (GRCm39)	D539E	probably benign	Het
Slc38a9	T	A	13: 112,826,098 (GRCm39)	S136R	probably damaging	Het
Smoc2	A	C	17: 14,589,295 (GRCm39)	T255P	probably benign	Het
Smyd2	T	C	1: 189,628,847 (GRCm39)	D152G	probably damaging	Het
Stab1	A	G	14: 30,862,350 (GRCm39)	V2328A	probably damaging	Het
Taar2	A	G	10: 23,816,591 (GRCm39)	I44V	probably benign	Het
Tbc1d4	T	C	14: 101,682,144 (GRCm39)	K1251E	probably benign	Het
Thada	G	A	17: 84,754,027 (GRCm39)	L315F	probably damaging	Het
Trbv14	T	C	6: 41,112,259 (GRCm39)	S19P	probably benign	Het
Ttc39c	T	C	18: 12,820,173 (GRCm39)		probably benign	Het
Ttc39d	A	G	17: 80,524,527 (GRCm39)	I395M	probably benign	Het
Ttn	T	C	2: 76,548,728 (GRCm39)	E31891G	probably damaging	Het
Ubr3	T	C	2: 69,800,527 (GRCm39)	V950A	probably damaging	Het
Usp9y	T	A	Y: 1,307,920 (GRCm39)	K2305N	probably damaging	Het
Vmn1r158	G	A	7: 22,490,179 (GRCm39)	T10I	possibly damaging	Het
Vmn2r129	G	T	4: 156,686,692 (GRCm39)		noncoding transcript	Het
Vmn2r78	T	A	7: 86,603,916 (GRCm39)	I698K	possibly damaging	Het
Vmn2r86	G	T	10: 130,289,460 (GRCm39)	T145K	probably damaging	Het
Zfp51	T	C	17: 21,684,933 (GRCm39)	V516A	probably benign	Het
Zfp654	A	T	16: 64,606,145 (GRCm39)	S686T	probably benign	Het
Zfp846	T	A	9: 20,502,111 (GRCm39)	C55S	probably benign	Het

Other mutations in Sh3bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00944:Sh3bp1	APN	15	78,789,314 (GRCm39)	missense	possibly damaging	0.58
IGL01879:Sh3bp1	APN	15	78,792,192 (GRCm39)	missense	probably damaging	1.00
IGL02112:Sh3bp1	APN	15	78,790,084 (GRCm39)	critical splice donor site	probably null
IGL02216:Sh3bp1	APN	15	78,789,364 (GRCm39)	missense	probably benign	0.07
IGL02385:Sh3bp1	APN	15	78,790,088 (GRCm39)	splice site	probably benign
IGL02417:Sh3bp1	APN	15	78,785,699 (GRCm39)	missense	probably damaging	1.00
IGL02551:Sh3bp1	APN	15	78,788,538 (GRCm39)	missense	probably benign	0.01
PIT1430001:Sh3bp1	UTSW	15	78,798,224 (GRCm39)	missense	probably benign
PIT4585001:Sh3bp1	UTSW	15	78,794,276 (GRCm39)	missense	possibly damaging	0.49
R0255:Sh3bp1	UTSW	15	78,788,534 (GRCm39)	nonsense	probably null
R0318:Sh3bp1	UTSW	15	78,795,907 (GRCm39)	missense	probably damaging	0.97
R0544:Sh3bp1	UTSW	15	78,789,975 (GRCm39)	missense	probably damaging	1.00
R0554:Sh3bp1	UTSW	15	78,791,467 (GRCm39)	missense	probably damaging	1.00
R1424:Sh3bp1	UTSW	15	78,787,899 (GRCm39)	critical splice donor site	probably null
R1465:Sh3bp1	UTSW	15	78,791,545 (GRCm39)	splice site	probably benign
R1813:Sh3bp1	UTSW	15	78,787,880 (GRCm39)	missense	probably damaging	0.96
R1835:Sh3bp1	UTSW	15	78,789,350 (GRCm39)	missense	probably damaging	1.00
R2291:Sh3bp1	UTSW	15	78,802,519 (GRCm39)	missense	possibly damaging	0.93
R2415:Sh3bp1	UTSW	15	78,785,361 (GRCm39)	start gained	probably benign
R2509:Sh3bp1	UTSW	15	78,795,706 (GRCm39)	missense	probably damaging	1.00
R2511:Sh3bp1	UTSW	15	78,795,706 (GRCm39)	missense	probably damaging	1.00
R3054:Sh3bp1	UTSW	15	78,795,622 (GRCm39)	missense	probably benign	0.01
R3827:Sh3bp1	UTSW	15	78,788,697 (GRCm39)	missense	possibly damaging	0.67
R3855:Sh3bp1	UTSW	15	78,785,361 (GRCm39)	start gained	probably benign
R4767:Sh3bp1	UTSW	15	78,788,697 (GRCm39)	missense	possibly damaging	0.67
R4787:Sh3bp1	UTSW	15	78,792,195 (GRCm39)	missense	possibly damaging	0.80
R4852:Sh3bp1	UTSW	15	78,788,538 (GRCm39)	missense	probably benign	0.01
R5194:Sh3bp1	UTSW	15	78,787,301 (GRCm39)	missense	probably damaging	1.00
R6320:Sh3bp1	UTSW	15	78,795,715 (GRCm39)	missense	probably damaging	1.00
R6322:Sh3bp1	UTSW	15	78,795,715 (GRCm39)	missense	probably damaging	1.00
R6569:Sh3bp1	UTSW	15	78,795,896 (GRCm39)	missense	probably damaging	1.00
R6678:Sh3bp1	UTSW	15	78,792,714 (GRCm39)	critical splice donor site	probably null
R6905:Sh3bp1	UTSW	15	78,789,230 (GRCm39)	missense	probably benign	0.00
R7564:Sh3bp1	UTSW	15	78,795,760 (GRCm39)	missense	probably damaging	1.00
R7744:Sh3bp1	UTSW	15	78,794,209 (GRCm39)	missense	possibly damaging	0.61
R7916:Sh3bp1	UTSW	15	78,791,421 (GRCm39)	missense	probably benign	0.01
R8048:Sh3bp1	UTSW	15	78,794,272 (GRCm39)	missense	probably benign	0.26
R8887:Sh3bp1	UTSW	15	78,788,540 (GRCm39)	critical splice donor site	probably null
R9043:Sh3bp1	UTSW	15	78,791,449 (GRCm39)	missense	possibly damaging	0.71
R9057:Sh3bp1	UTSW	15	78,794,209 (GRCm39)	missense	probably benign	0.00
R9548:Sh3bp1	UTSW	15	78,788,673 (GRCm39)	missense	possibly damaging	0.94
R9666:Sh3bp1	UTSW	15	78,792,622 (GRCm39)	missense	probably benign	0.10
Z1177:Sh3bp1	UTSW	15	78,786,772 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAGTCAATCCAAGACCTGGG -3'
(R):5'- GAAAGGATGGGACTTCTCTTTGC -3'

Sequencing Primer
(F):5'- GCCCAGAATCGATTAGTGATATCTG -3'
(R):5'- TTCCATGGGTAAGACAGAACCGTTC -3'

Posted On

2016-03-17