Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02828:Sh3bp5'

361324

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sh3bp5

Ensembl Gene

ENSMUSG00000021892

Gene Name

SH3-domain binding protein 5 (BTK-associated)

Synonyms

Sab

Accession Numbers

Essential gene?

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

Stock #

IGL02828

Quality Score

Status

Chromosome

Chromosomal Location

31094571-31158056 bp(-) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 31156106 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000117152 (fasta)

Gene Model

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

AlphaFold

Q9Z131

Predicted Effect

probably benign
Transcript: ENSMUST00000091903

SMART Domains

Protein: ENSMUSP00000089517
Gene: ENSMUSG00000021892

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: ENSMUST00000140002

SMART Domains

Protein: ENSMUSP00000117152
Gene: ENSMUSG00000021892

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	G	A	11: 109,871,720 (GRCm39)	T86I	probably damaging	Het
Adam28	C	T	14: 68,884,319 (GRCm39)	S93N	possibly damaging	Het
Adamts6	T	C	13: 104,433,978 (GRCm39)	Y136H	probably damaging	Het
Ahdc1	A	T	4: 132,790,232 (GRCm39)	K491I	possibly damaging	Het
Alb	C	A	5: 90,615,247 (GRCm39)	A253E	probably benign	Het
Asb18	A	G	1: 89,923,932 (GRCm39)		probably null	Het
Asxl3	T	A	18: 22,657,718 (GRCm39)	N1909K	possibly damaging	Het
Atosa	G	T	9: 74,913,714 (GRCm39)	A123S	probably damaging	Het
Atp12a	T	A	14: 56,613,599 (GRCm39)	V457D	possibly damaging	Het
Atxn7	G	T	14: 14,090,056 (GRCm38)	G334W	probably damaging	Het
Catsperb	T	A	12: 101,447,041 (GRCm39)	I223K	probably benign	Het
Clec2h	T	A	6: 128,652,885 (GRCm39)	H217Q	probably benign	Het
Col6a3	T	C	1: 90,724,281 (GRCm39)	E1416G	probably damaging	Het
Dcaf1	T	A	9: 106,721,501 (GRCm39)		probably benign	Het
Ddr2	C	T	1: 169,816,082 (GRCm39)	A542T	probably benign	Het
Ebf3	T	C	7: 136,909,247 (GRCm39)	N174S	probably damaging	Het
Ecpas	A	G	4: 58,875,512 (GRCm39)	S151P	possibly damaging	Het
Ephb2	A	G	4: 136,498,461 (GRCm39)	I206T	probably benign	Het
Fbxo39	T	A	11: 72,208,041 (GRCm39)	I131N	possibly damaging	Het
Fdxacb1	G	A	9: 50,682,864 (GRCm39)	V276I	possibly damaging	Het
Gpr146	A	T	5: 139,378,576 (GRCm39)	Y126F	probably damaging	Het
Hivep3	A	T	4: 119,954,929 (GRCm39)	K1082*	probably null	Het
Ifnar1	T	A	16: 91,302,304 (GRCm39)		probably null	Het
Kap	A	G	6: 133,829,057 (GRCm39)	V25A	probably benign	Het
Klhl2	C	A	8: 65,232,791 (GRCm39)	R162L	probably damaging	Het
Kmt2a	A	G	9: 44,733,244 (GRCm39)		probably benign	Het
Lrp4	A	G	2: 91,305,639 (GRCm39)	N303S	probably benign	Het
Mtpap	A	T	18: 4,386,207 (GRCm39)	N276Y	probably damaging	Het
Nlrp5	G	A	7: 23,120,885 (GRCm39)	G684S	possibly damaging	Het
Or10g3b	T	C	14: 52,586,799 (GRCm39)	R235G	probably benign	Het
Or14a256	A	T	7: 86,265,277 (GRCm39)	V192E	possibly damaging	Het
Pak2	A	T	16: 31,840,674 (GRCm39)	L469H	probably damaging	Het
Pcdhb15	T	A	18: 37,606,903 (GRCm39)	L45Q	probably damaging	Het
Pi4ka	A	T	16: 17,098,575 (GRCm39)		probably benign	Het
Picalm	A	G	7: 89,826,709 (GRCm39)	T386A	probably benign	Het
Pkd1l2	T	C	8: 117,756,298 (GRCm39)	T1645A	probably benign	Het
Plekhm2	A	T	4: 141,356,941 (GRCm39)	V754E	probably damaging	Het
Pramel25	A	T	4: 143,521,695 (GRCm39)	D437V	possibly damaging	Het
Rbl1	T	A	2: 157,041,384 (GRCm39)	E81V	probably damaging	Het
Rbp4	C	A	19: 38,106,717 (GRCm39)		probably null	Het
Rdh12	T	C	12: 79,265,459 (GRCm39)	V211A	probably damaging	Het
Ret	G	A	6: 118,153,168 (GRCm39)	A500V	probably benign	Het
Rin1	T	C	19: 5,103,118 (GRCm39)	F469S	possibly damaging	Het
Rmc1	C	A	18: 12,322,278 (GRCm39)	A577D	possibly damaging	Het
Rsc1a1	G	T	4: 141,411,479 (GRCm39)	P478T	probably damaging	Het
Setd2	A	T	9: 110,390,282 (GRCm39)	Y1579F	probably benign	Het
Slc22a13	G	T	9: 119,024,773 (GRCm39)	L235I	probably benign	Het
Slc6a11	A	T	6: 114,111,948 (GRCm39)	T172S	possibly damaging	Het
Slitrk1	G	T	14: 109,149,048 (GRCm39)	S554R	possibly damaging	Het
Tg	G	A	15: 66,554,243 (GRCm39)	G553S	probably damaging	Het
Tmem26	G	A	10: 68,611,215 (GRCm39)		probably null	Het
Trpm2	A	T	10: 77,754,820 (GRCm39)	L1222Q	probably benign	Het
Vdac2	T	C	14: 21,893,957 (GRCm39)	V249A	probably benign	Het
Vmn1r170	T	C	7: 23,305,943 (GRCm39)	V115A	probably damaging	Het
Vmn2r105	A	G	17: 20,429,345 (GRCm39)	V577A	possibly damaging	Het
Xpo1	A	G	11: 23,232,593 (GRCm39)	E371G	probably damaging	Het
Zfp106	A	C	2: 120,362,178 (GRCm39)	H980Q	possibly damaging	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
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
R5688: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

Posted On

2015-12-18