Mutagenetix > Incidental Mutation

Incidental Mutation 'R5402:Sh3bp5'

430071

Institutional Source

Beutler Lab

Gene Symbol

Sh3bp5

Ensembl Gene

ENSMUSG00000021892

Gene Name

SH3-domain binding protein 5 (BTK-associated)

Synonyms

Sab

MMRRC Submission

042973-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

R5402 (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: 97.4%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	T	13: 81,607,834 (GRCm39)	D4079E	probably benign	Het
Bcar1	T	C	8: 112,440,962 (GRCm39)	D344G	probably damaging	Het
Car9	A	G	4: 43,510,213 (GRCm39)	N265S	probably damaging	Het
Ccr7	A	G	11: 99,036,560 (GRCm39)	S121P	possibly damaging	Het
Cgnl1	A	G	9: 71,536,603 (GRCm39)	L1278P	probably damaging	Het
Chst9	A	T	18: 15,585,872 (GRCm39)	S230R	probably damaging	Het
Cped1	G	A	6: 22,143,951 (GRCm39)	V566M	probably benign	Het
Csf2	A	T	11: 54,138,489 (GRCm39)	Y117*	probably null	Het
Cwf19l1	C	T	19: 44,121,524 (GRCm39)		probably null	Het
Cyp2d34	C	T	15: 82,503,287 (GRCm39)	G69D	probably damaging	Het
Dync2h1	A	T	9: 7,114,949 (GRCm39)	V170E	probably damaging	Het
Ehbp1l1	T	A	19: 5,766,348 (GRCm39)	T388S	possibly damaging	Het
Etfa	T	C	9: 55,362,023 (GRCm39)	I329M	probably benign	Het
Flt4	AC	ACC	11: 49,541,861 (GRCm39)		probably null	Het
Fmnl2	G	A	2: 53,018,794 (GRCm39)	V1078I	probably damaging	Het
Fnip2	A	G	3: 79,388,250 (GRCm39)	L797P	possibly damaging	Het
Gmeb2	A	T	2: 180,897,750 (GRCm39)		probably null	Het
Greb1l	A	G	18: 10,537,169 (GRCm39)	T1045A	probably benign	Het
Hapln1	A	G	13: 89,753,530 (GRCm39)	N232S	probably benign	Het
Hibadh	A	T	6: 52,523,965 (GRCm39)	M311K	probably benign	Het
Hus1	C	T	11: 8,960,240 (GRCm39)		probably null	Het
Il31ra	T	C	13: 112,660,669 (GRCm39)	E640G	probably benign	Het
L3mbtl4	T	C	17: 68,762,769 (GRCm39)	F101L	probably damaging	Het
Lbr	A	T	1: 181,647,526 (GRCm39)	M417K	probably benign	Het
Lrig3	T	G	10: 125,844,609 (GRCm39)	L691R	probably damaging	Het
Mcm3ap	T	A	10: 76,319,148 (GRCm39)	F792Y	probably benign	Het
Mst1	T	C	9: 107,961,408 (GRCm39)		probably null	Het
Nova2	C	A	7: 18,692,371 (GRCm39)	T500K	probably damaging	Het
Nxph4	A	T	10: 127,362,133 (GRCm39)	C253S	probably damaging	Het
Or2t1	T	C	14: 14,328,878 (GRCm38)	Y256H	probably damaging	Het
Or4s2b	T	A	2: 88,508,492 (GRCm39)	S98T	possibly damaging	Het
Pcdhga3	G	A	18: 37,808,747 (GRCm39)	R400Q	probably benign	Het
Pidd1	C	A	7: 141,018,507 (GRCm39)	A915S	probably damaging	Het
Plat	T	G	8: 23,262,738 (GRCm39)	W148G	probably damaging	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Pramel27	G	A	4: 143,578,225 (GRCm39)		probably null	Het
Ptdss1	A	G	13: 67,081,663 (GRCm39)	D31G	possibly damaging	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Samd8	A	G	14: 21,825,236 (GRCm39)	D64G	probably damaging	Het
Scgb1b20	A	G	7: 33,072,656 (GRCm39)		probably null	Het
Slc25a23	T	C	17: 57,360,336 (GRCm39)	I269V	probably benign	Het
Slc35f4	A	T	14: 49,556,331 (GRCm39)	S141T	probably damaging	Het
Srgap1	T	C	10: 121,621,665 (GRCm39)	M966V	probably benign	Het
Syne2	T	A	12: 76,106,213 (GRCm39)	V5526E	probably damaging	Het
Tcaf3	A	G	6: 42,568,860 (GRCm39)	S596P	probably benign	Het
Tg	T	A	15: 66,611,017 (GRCm39)	I356N	probably damaging	Het
Ttc6	C	T	12: 57,783,817 (GRCm39)	R1759*	probably null	Het
Wdsub1	T	C	2: 59,700,822 (GRCm39)	N138D	probably benign	Het
Zfp1001	A	G	2: 150,204,886 (GRCm39)	I67V	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
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

Predicted Primers

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

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

Posted On

2016-09-06