Mutagenetix > Incidental Mutations

Incidental Mutation 'R5862:Sh3bp5'

453980

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp5

Ensembl Gene

ENSMUSG00000021892

Gene Name

SH3-domain binding protein 5 (BTK-associated)

Synonyms

Sab

MMRRC Submission

043231-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.138) question?

Stock #

R5862 (G1)

Quality Score

138

Status

Not validated

Chromosome

Chromosomal Location

31359880-31436078 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31377495 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 265 (R265L)

Ref Sequence

ENSEMBL: ENSMUSP00000117152 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000091903] [ENSMUST00000100730] [ENSMUST00000140002]

Predicted Effect

probably benign
Transcript: ENSMUST00000091903
AA Change: R265L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892
AA Change: R265L

Domain	Start	End	E-Value	Type
Pfam:SH3BP5	42	272	2.2e-99	PFAM
low complexity region	323	335	N/A	INTRINSIC
low complexity region	407	428	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000100730
AA Change: R263L

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000098296
Gene: ENSMUSG00000021892
AA Change: R263L

Domain	Start	End	E-Value	Type
Pfam:SH3BP5	60	274	5.5e-95	PFAM
low complexity region	321	333	N/A	INTRINSIC
low complexity region	405	426	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000140002
AA Change: R265L

PolyPhen 2 Score 0.057 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892
AA Change: R265L

Domain	Start	End	E-Value	Type
Pfam:SH3BP5	42	272	2.3e-99	PFAM
low complexity region	323	335	N/A	INTRINSIC
low complexity region	407	428	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147586

Meta Mutation Damage Score

0.2831

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	A	G	1: 179,788,330	Y326H	probably damaging	Het
Alpk2	T	A	18: 65,307,289	K811N	probably damaging	Het
Ap3b1	T	A	13: 94,547,770	M1014K	unknown	Het
Bphl	G	A	13: 34,063,984	V247I	possibly damaging	Het
C6	A	T	15: 4,735,263	D147V	possibly damaging	Het
Clec18a	G	A	8: 111,081,558	H71Y	possibly damaging	Het
Cse1l	A	G	2: 166,915,207	T10A	probably benign	Het
Cyp2b9	G	T	7: 26,187,807	G214C	probably benign	Het
Dctn6	A	T	8: 34,108,417		probably null	Het
Dnaja4	G	T	9: 54,699,341		probably benign	Het
Dpp8	A	T	9: 65,045,722	S227C	probably benign	Het
Ecel1	T	C	1: 87,149,596	N630S	probably benign	Het
Etnppl	T	C	3: 130,631,824	V426A	possibly damaging	Het
Golgb1	A	T	16: 36,926,091		silent	Het
H2afy	T	A	13: 56,074,271	I359L	probably damaging	Het
Hapln3	A	T	7: 79,121,891	H83Q	possibly damaging	Het
Hmgxb4	A	G	8: 75,001,055	K222R	probably damaging	Het
Hsf5	C	A	11: 87,622,991	T294K	probably damaging	Het
Ighv12-2	A	G	12: 114,127,937		noncoding transcript	Het
Lrch3	A	T	16: 32,995,809	H587L	probably damaging	Het
Mboat1	C	T	13: 30,235,697	T339M	probably damaging	Het
Mief1	G	A	15: 80,248,385	R156Q	probably benign	Het
Ms4a6b	T	A	19: 11,521,803	F94I	probably benign	Het
Neb	T	A	2: 52,179,542	R307*	probably null	Het
Neu4	A	G	1: 94,022,930	I147V	probably benign	Het
Olfr1036	T	C	2: 86,075,646	I302T	probably benign	Het
Pcyox1	A	G	6: 86,391,674		probably null	Het
Pik3ap1	T	A	19: 41,332,345	D145V	probably damaging	Het
Pja2	T	C	17: 64,297,826	D454G	probably benign	Het
Plekhg1	C	T	10: 3,937,914	T281M	probably damaging	Het
Ptprq	T	C	10: 107,565,878	I1918V	probably benign	Het
Rasgef1a	A	C	6: 118,080,444	R35S	probably benign	Het
Rnf167	A	G	11: 70,651,092	T308A	probably damaging	Het
Sfmbt2	C	T	2: 10,402,052	T54I	possibly damaging	Het
Shkbp1	G	T	7: 27,343,404	S536*	probably null	Het
Taf2	C	A	15: 55,048,323	V566L	possibly damaging	Het
Tmed6	G	T	8: 107,064,154	T87K	probably damaging	Het
Tyms	A	T	5: 30,063,410	D97E	probably damaging	Het
Usp20	T	A	2: 31,006,449	L188*	probably null	Het
Zbtb10	T	A	3: 9,265,216	S545T	probably damaging	Het
Zscan29	G	T	2: 121,164,037	T489N	probably damaging	Het

Other mutations in Sh3bp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Sh3bp5	APN	14	31379390	nonsense	probably null
IGL02828:Sh3bp5	APN	14	31434149	splice site	probably benign
R1925:Sh3bp5	UTSW	14	31435923	missense	probably benign
R2511:Sh3bp5	UTSW	14	31411629	missense	probably damaging	1.00
R4798:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R4799:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5303:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5306:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5307:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5308:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5400:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5401:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5402:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5421:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5422:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5496:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5498:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5500:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5687:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5688:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5724:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5762:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5765:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5938:Sh3bp5	UTSW	14	31387834	missense	possibly damaging	0.65
R5940:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R5941:Sh3bp5	UTSW	14	31377495	missense	probably benign	0.06
R6516:Sh3bp5	UTSW	14	31375672	missense	possibly damaging	0.84
R6935:Sh3bp5	UTSW	14	31379516	missense	probably damaging	0.96
R7309:Sh3bp5	UTSW	14	31378289	missense	probably benign	0.21
R8196:Sh3bp5	UTSW	14	31417442	missense	probably benign	0.21
R8224:Sh3bp5	UTSW	14	31377516	missense	probably damaging	0.97
R8535:Sh3bp5	UTSW	14	31417418	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCAAATGAGCACAGCGTCCC -3'
(R):5'- TGTTGTAATCATGTGTCACCCC -3'

Sequencing Primer
(F):5'- AGCGTCCCACAATACATGAG -3'
(R):5'- ATGTGTCACCCCCTCCATCAG -3'

Posted On

2017-02-10