Mutagenetix > Incidental Mutation

Incidental Mutation 'R5422:Sh3bp5'

426661

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp5

Ensembl Gene

ENSMUSG00000021892

Gene Name

SH3-domain binding protein 5 (BTK-associated)

Synonyms

Sab

MMRRC Submission

042846-MU

Accession Numbers

Essential gene?

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

Stock #

R5422 (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: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts18	T	C	8: 114,425,606 (GRCm39)	S1219G	probably benign	Het
Adgrg5	T	A	8: 95,660,580 (GRCm39)	I73N	probably damaging	Het
Agmat	C	A	4: 141,483,144 (GRCm39)	H193N	probably damaging	Het
Ambn	T	C	5: 88,612,370 (GRCm39)		probably null	Het
Atp8b5	T	A	4: 43,366,644 (GRCm39)	C803S	probably benign	Het
Btaf1	A	T	19: 36,928,507 (GRCm39)	R109S	probably benign	Het
Btnl6	C	T	17: 34,733,081 (GRCm39)	G261R	possibly damaging	Het
Clk3	A	G	9: 57,672,721 (GRCm39)	V27A	probably benign	Het
Clu	A	G	14: 66,213,051 (GRCm39)	S146G	probably damaging	Het
Cyp2w1	T	C	5: 139,338,528 (GRCm39)	F43L	probably benign	Het
Elf3	C	T	1: 135,182,778 (GRCm39)	E316K	probably damaging	Het
Epha5	A	T	5: 84,479,349 (GRCm39)	D218E	probably damaging	Het
Ereg	T	C	5: 91,222,666 (GRCm39)		probably null	Het
Ewsr1	A	G	11: 5,030,668 (GRCm39)		probably benign	Het
Fat4	A	G	3: 38,941,394 (GRCm39)	I96V	possibly damaging	Het
Fgl2	T	G	5: 21,580,808 (GRCm39)	N383K	probably damaging	Het
Fkbp11	A	T	15: 98,625,989 (GRCm39)		probably null	Het
Fn3k	C	A	11: 121,340,948 (GRCm39)	P201Q	probably damaging	Het
Fsip2	A	G	2: 82,812,572 (GRCm39)	I2964V	probably benign	Het
Gbx1	C	T	5: 24,709,667 (GRCm39)	V393I	possibly damaging	Het
Gch1	C	T	14: 47,394,906 (GRCm39)	A187T	probably damaging	Het
Ghdc	C	A	11: 100,660,020 (GRCm39)	K242N	probably benign	Het
Ghrhr	A	G	6: 55,365,188 (GRCm39)	H394R	probably benign	Het
Gje1	G	A	10: 14,592,428 (GRCm39)	S118L	probably damaging	Het
Hnrnpa2b1	A	T	6: 51,442,208 (GRCm39)	S236R	probably benign	Het
Kcnj5	A	G	9: 32,229,001 (GRCm39)	Y66H	probably benign	Het
Kif15	T	A	9: 122,813,954 (GRCm39)		probably null	Het
Magi3	C	T	3: 103,958,684 (GRCm39)	C467Y	probably damaging	Het
Map7	G	T	10: 20,142,512 (GRCm39)	V303F	probably damaging	Het
Mapk11	A	G	15: 89,030,488 (GRCm39)	L135P	probably damaging	Het
Mapkapk5	T	A	5: 121,669,785 (GRCm39)		probably null	Het
Myh7b	A	C	2: 155,472,954 (GRCm39)	Q1405P	probably damaging	Het
Nalcn	A	T	14: 123,752,777 (GRCm39)	I328N	probably damaging	Het
Nprl2	C	A	9: 107,420,796 (GRCm39)	R144S	probably benign	Het
Ogfr	G	T	2: 180,237,067 (GRCm39)	D551Y	possibly damaging	Het
Ogfr	A	T	2: 180,237,068 (GRCm39)	D551V	probably benign	Het
Or6b13	A	T	7: 139,782,305 (GRCm39)	V126E	probably damaging	Het
Or8c10	A	T	9: 38,279,270 (GRCm39)	T143S	probably benign	Het
Parp14	T	C	16: 35,686,545 (GRCm39)	K101E	probably benign	Het
Pcdhb16	A	T	18: 37,612,920 (GRCm39)	T627S	probably damaging	Het
Pdzrn4	G	A	15: 92,575,502 (GRCm39)	G303S	probably benign	Het
Plcl1	A	T	1: 55,736,543 (GRCm39)	Y628F	probably benign	Het
Ptpn9	T	A	9: 56,940,441 (GRCm39)	W194R	probably damaging	Het
Ranbp9	A	T	13: 43,573,102 (GRCm39)	M474K	probably benign	Het
Rasgef1a	T	A	6: 118,065,095 (GRCm39)	F370Y	probably damaging	Het
Rassf5	C	A	1: 131,108,911 (GRCm39)	R218L	possibly damaging	Het
Scart1	A	T	7: 139,804,068 (GRCm39)	H422L	probably benign	Het
Serpine2	C	A	1: 79,794,592 (GRCm39)	V114L	probably benign	Het
Serpine2	T	C	1: 79,799,206 (GRCm39)	Y16C	probably benign	Het
Sgms1	G	T	19: 32,137,232 (GRCm39)	N111K	probably damaging	Het
Slc45a2	C	T	15: 11,027,871 (GRCm39)	T480I	probably damaging	Het
Tbc1d17	A	T	7: 44,498,292 (GRCm39)	M1K	probably null	Het
Tcf12	A	T	9: 71,776,320 (GRCm39)	H403Q	probably damaging	Het
Thoc2l	T	C	5: 104,667,512 (GRCm39)	I678T	probably damaging	Het
Thsd7b	T	C	1: 129,849,071 (GRCm39)	S928P	probably benign	Het
Tjp1	A	T	7: 64,952,715 (GRCm39)	F1540I	probably damaging	Het
Tph2	T	A	10: 114,915,669 (GRCm39)	D457V	possibly damaging	Het
Usp9y	T	C	Y: 1,314,676 (GRCm39)	I2112V	probably benign	Het
Vps51	T	G	19: 6,121,063 (GRCm39)	E283D	probably benign	Het
Zfp335	T	C	2: 164,749,650 (GRCm39)	K249R	probably damaging	Het
Zfp54	C	A	17: 21,654,788 (GRCm39)	S427R	probably benign	Het
Zfp607b	A	G	7: 27,401,813 (GRCm39)	T90A	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
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

Predicted Primers

PCR Primer
(F):5'- AGCGTCCCACAATACATGAG -3'
(R):5'- GTGTTGTAATCATGTGTCACCCC -3'

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

Posted On

2016-09-01