Mutagenetix > Incidental Mutation

Incidental Mutation 'R5688:Sh3bp5'

443527

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp5

Ensembl Gene

ENSMUSG00000021892

Gene Name

SH3-domain binding protein 5 (BTK-associated)

Synonyms

Sab

MMRRC Submission

043321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.228) question?

Stock #

R5688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31094571-31158056 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 31099452 bp (GRCm39)

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]

AlphaFold

Q9Z131

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: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,315,920 (GRCm39)	A222V	probably benign	Het
Ahnak	A	G	19: 8,979,883 (GRCm39)	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,337,789 (GRCm39)	S559T	possibly damaging	Het
Alms1	T	A	6: 85,576,877 (GRCm39)	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868 (GRCm39)		probably null	Het
Atf7	C	T	15: 102,459,944 (GRCm39)	R57H	probably damaging	Het
Atp10b	A	T	11: 43,092,000 (GRCm39)	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,563,950 (GRCm39)	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730 (GRCm39)		probably null	Het
Cd248	A	G	19: 5,119,963 (GRCm39)	T604A	probably benign	Het
Cemip	C	T	7: 83,610,849 (GRCm39)	V702M	probably damaging	Het
Cep295	G	T	9: 15,243,282 (GRCm39)	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,427 (GRCm39)	W485R	probably damaging	Het
Cpe	T	C	8: 65,062,189 (GRCm39)	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,233,358 (GRCm39)	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb7	T	G	8: 19,545,167 (GRCm39)	L15R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Ednrb	T	C	14: 104,060,831 (GRCm39)	D198G	probably damaging	Het
Engase	A	C	11: 118,378,146 (GRCm39)	E312A	possibly damaging	Het
Evl	G	A	12: 108,639,612 (GRCm39)		probably null	Het
Faf1	C	A	4: 109,652,010 (GRCm39)	Q234K	probably damaging	Het
Garre1	T	A	7: 33,953,416 (GRCm39)	T449S	possibly damaging	Het
Garre1	T	G	7: 33,984,134 (GRCm39)	D163A	probably damaging	Het
Gm5460	C	A	14: 33,767,752 (GRCm39)	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,220,869 (GRCm39)	I387F	possibly damaging	Het
H1f2	A	G	13: 23,923,148 (GRCm39)	K106R	probably damaging	Het
Hagh	T	C	17: 25,069,568 (GRCm39)	M1T	probably null	Het
Hars1	A	T	18: 36,905,369 (GRCm39)	V155E	probably damaging	Het
Lca5	C	A	9: 83,280,619 (GRCm39)	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,440,834 (GRCm39)	L280P	probably damaging	Het
Lrit1	C	T	14: 36,784,385 (GRCm39)	A571V	possibly damaging	Het
Map4k2	C	A	19: 6,396,836 (GRCm39)	P584H	probably damaging	Het
Mgst1	T	C	6: 138,118,798 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,009,590 (GRCm39)	C936*	probably null	Het
Neb	C	T	2: 52,086,339 (GRCm39)	V5245I	probably damaging	Het
Oas3	T	C	5: 120,896,867 (GRCm39)	N918S	probably benign	Het
Or4c106	C	T	2: 88,683,023 (GRCm39)	T243I	probably benign	Het
Or5d16	T	A	2: 87,773,552 (GRCm39)	Q140L	probably benign	Het
Or8b8	A	C	9: 37,809,359 (GRCm39)	I220L	possibly damaging	Het
Ovch2	A	G	7: 107,393,201 (GRCm39)	L224P	probably damaging	Het
Patj	A	T	4: 98,409,047 (GRCm39)	K34*	probably null	Het
Pcf11	T	A	7: 92,308,016 (GRCm39)	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,177,400 (GRCm39)	E577D	probably benign	Het
Plxnb2	T	C	15: 89,042,899 (GRCm39)	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,299,266 (GRCm39)	L141I	probably damaging	Het
Rhobtb3	G	T	13: 76,020,537 (GRCm39)	N588K	probably benign	Het
Rnasel	G	A	1: 153,629,452 (GRCm39)		probably benign	Het
Shank1	A	T	7: 44,003,911 (GRCm39)	I1868F	possibly damaging	Het
Slc28a3	A	T	13: 58,706,463 (GRCm39)	S593T	probably damaging	Het
Slc29a4	T	C	5: 142,699,853 (GRCm39)	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,518,775 (GRCm39)	P502L	probably benign	Het
Slco6d1	T	C	1: 98,408,493 (GRCm39)	I463T	probably damaging	Het
Slk	A	G	19: 47,608,451 (GRCm39)	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,874,322 (GRCm39)	P1071Q	probably damaging	Het
Tert	G	A	13: 73,787,275 (GRCm39)	V754I	probably damaging	Het
Thada	T	C	17: 84,759,155 (GRCm39)	T235A	probably benign	Het
Ttn	T	C	2: 76,564,472 (GRCm39)	D28555G	probably damaging	Het
Ttn	T	A	2: 76,710,328 (GRCm39)		probably null	Het
Ubqln4	T	C	3: 88,472,575 (GRCm39)	L464P	probably damaging	Het
Unc45b	A	T	11: 82,813,643 (GRCm39)	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,589,900 (GRCm39)	D672G	probably benign	Het
Zfp947	T	A	17: 22,365,066 (GRCm39)	I203L	probably benign	Het
Zfp964	T	A	8: 70,116,766 (GRCm39)	H454Q	probably benign	Het

Other mutations in Sh3bp5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00236:Sh3bp5	APN	14	31,101,347 (GRCm39)	nonsense	probably null
IGL02828:Sh3bp5	APN	14	31,156,106 (GRCm39)	splice site	probably benign
R1925:Sh3bp5	UTSW	14	31,157,880 (GRCm39)	missense	probably benign
R2511:Sh3bp5	UTSW	14	31,133,586 (GRCm39)	missense	probably damaging	1.00
R4798:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R4799:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5303:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5306:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5307:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5308:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5400:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5401:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5402:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5421:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5422:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5496:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5498:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5500:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5687:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5724:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5762:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5765:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5862:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5938:Sh3bp5	UTSW	14	31,109,791 (GRCm39)	missense	possibly damaging	0.65
R5940:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R5941:Sh3bp5	UTSW	14	31,099,452 (GRCm39)	missense	probably benign	0.06
R6516:Sh3bp5	UTSW	14	31,097,629 (GRCm39)	missense	possibly damaging	0.84
R6935:Sh3bp5	UTSW	14	31,101,473 (GRCm39)	missense	probably damaging	0.96
R7309:Sh3bp5	UTSW	14	31,100,246 (GRCm39)	missense	probably benign	0.21
R8196:Sh3bp5	UTSW	14	31,139,399 (GRCm39)	missense	probably benign	0.21
R8224:Sh3bp5	UTSW	14	31,099,473 (GRCm39)	missense	probably damaging	0.97
R8535:Sh3bp5	UTSW	14	31,139,375 (GRCm39)	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

2016-11-09