Mutagenetix > Incidental Mutation

Incidental Mutation 'R8713:Sbk3'

669706

Institutional Source

Beutler Lab

Gene Symbol

Sbk3

Ensembl Gene

ENSMUSG00000085272

Gene Name

SH3 domain binding kinase family, member 3

Synonyms

LOC381835, Gm1078

MMRRC Submission

068567-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R8713 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

4968259-4974167 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 4972991 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 60 (V60I)

Ref Sequence

ENSEMBL: ENSMUSP00000122507 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000133272] [ENSMUST00000144863]

AlphaFold

P0C5K0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000133272
AA Change: V79I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000120654
Gene: ENSMUSG00000085272
AA Change: V79I

Domain	Start	End	E-Value	Type
low complexity region	7	18	N/A	INTRINSIC
Pfam:Pkinase_Tyr	43	268	1.8e-17	PFAM
Pfam:Pkinase	43	304	1.7e-30	PFAM
Pfam:Kinase-like	130	262	1.6e-8	PFAM
low complexity region	309	321	N/A	INTRINSIC
low complexity region	328	347	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144863
AA Change: V60I

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000122507
Gene: ENSMUSG00000085272
AA Change: V60I

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	24	248	3.1e-17	PFAM
Pfam:Pkinase	24	284	5.6e-32	PFAM
Pfam:Kinase-like	111	237	2.5e-7	PFAM
low complexity region	290	302	N/A	INTRINSIC
low complexity region	309	328	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim2	C	T	5: 36,030,518 (GRCm39)	A581V	possibly damaging	Het
Adam18	T	A	8: 25,142,189 (GRCm39)	M196L	probably benign	Het
Ankrd10	A	G	8: 11,678,491 (GRCm39)	S134P	probably damaging	Het
Ano8	C	T	8: 71,937,721 (GRCm39)	G47D	probably damaging	Het
Arl6ip4	T	C	5: 124,254,825 (GRCm39)	V4A	unknown	Het
Cabp4	C	T	19: 4,186,159 (GRCm39)	M247I	probably benign	Het
Ccdc30	A	T	4: 119,261,404 (GRCm39)	L11Q	probably damaging	Het
Cdkl4	A	G	17: 80,841,292 (GRCm39)	S288P	possibly damaging	Het
Celsr3	A	G	9: 108,707,062 (GRCm39)	I1182V	probably benign	Het
Dnah17	T	C	11: 117,979,028 (GRCm39)	D1788G	probably damaging	Het
Dsp	A	G	13: 38,352,701 (GRCm39)	D193G	probably damaging	Het
Dym	T	G	18: 75,189,809 (GRCm39)	Y132*	probably null	Het
Dync2h1	G	A	9: 7,141,008 (GRCm39)	Q1340*	probably null	Het
Elmo1	T	C	13: 20,458,791 (GRCm39)		probably benign	Het
Fbxw15	A	C	9: 109,384,667 (GRCm39)	F378V	possibly damaging	Het
Fsip2	G	A	2: 82,811,453 (GRCm39)	G2591R	probably damaging	Het
Gps2	C	A	11: 69,806,180 (GRCm39)	D148E	probably benign	Het
Iars2	T	C	1: 185,023,615 (GRCm39)	D772G	possibly damaging	Het
Ifit1	T	A	19: 34,625,038 (GRCm39)	L58Q	probably benign	Het
Kctd4	A	T	14: 76,200,366 (GRCm39)	Q112H	probably benign	Het
Letm1	A	G	5: 33,919,849 (GRCm39)	L230P	probably damaging	Het
Lrch4	G	T	5: 137,638,125 (GRCm39)	E136*	probably null	Het
Macc1	T	C	12: 119,407,261 (GRCm39)		probably benign	Het
Macrod1	T	C	19: 7,034,494 (GRCm39)	L79P	probably benign	Het
Map2	T	A	1: 66,453,781 (GRCm39)	N890K	probably damaging	Het
Mctp1	G	A	13: 76,789,922 (GRCm39)	S270N	probably benign	Het
Mrpl44	C	T	1: 79,755,708 (GRCm39)	R105C	probably damaging	Het
Mtg1	T	A	7: 139,717,688 (GRCm39)		probably null	Het
Mtg1	T	C	7: 139,720,136 (GRCm39)	F68L	probably benign	Het
Nfil3	A	G	13: 53,122,047 (GRCm39)	S286P	possibly damaging	Het
Nutm1	A	G	2: 112,081,667 (GRCm39)	V332A	possibly damaging	Het
Obscn	T	A	11: 59,026,792 (GRCm39)	Q137L	probably benign	Het
Pcnx2	T	G	8: 126,545,525 (GRCm39)	E1162A	probably damaging	Het
Pgr	A	G	9: 8,900,818 (GRCm39)	D117G	possibly damaging	Het
Plce1	T	C	19: 38,513,345 (GRCm39)	C215R	probably benign	Het
Rrm1	T	G	7: 102,109,558 (GRCm39)	Y461D	probably damaging	Het
Scube1	G	T	15: 83,494,471 (GRCm39)	A852E	possibly damaging	Het
Sec24d	T	A	3: 123,137,541 (GRCm39)	I561N	probably damaging	Het
Slc16a4	T	C	3: 107,218,901 (GRCm39)	*501Q	probably null	Het
Slc6a19	C	A	13: 73,848,740 (GRCm39)	V5L	probably benign	Het
Spryd3	A	G	15: 102,041,920 (GRCm39)	I34T	possibly damaging	Het
Syne1	A	G	10: 5,266,040 (GRCm39)	L2191P	probably damaging	Het
Tbrg1	A	G	9: 37,563,955 (GRCm39)	C227R	probably damaging	Het
Tdrd6	A	G	17: 43,935,910 (GRCm39)	S1713P	probably benign	Het
Thap12	C	T	7: 98,356,283 (GRCm39)	L57F	probably benign	Het
Top1	G	A	2: 160,559,360 (GRCm39)	V628I	probably damaging	Het
Trim67	A	G	8: 125,547,074 (GRCm39)	M495V	probably null	Het
Trio	A	C	15: 27,744,037 (GRCm39)		probably benign	Het
Vmn2r23	A	T	6: 123,679,991 (GRCm39)	Y71F		Het
Ywhah	A	G	5: 33,184,535 (GRCm39)	N246S	probably benign	Het
Zcwpw1	T	C	5: 137,797,794 (GRCm39)	I125T	probably benign	Het

Other mutations in Sbk3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0002:Sbk3	UTSW	7	4,973,630 (GRCm39)	missense	probably damaging	1.00
R0344:Sbk3	UTSW	7	4,970,404 (GRCm39)	missense	possibly damaging	0.53
R1396:Sbk3	UTSW	7	4,970,452 (GRCm39)	missense	possibly damaging	0.86
R2115:Sbk3	UTSW	7	4,970,415 (GRCm39)	missense	possibly damaging	0.86
R4073:Sbk3	UTSW	7	4,973,501 (GRCm39)	missense	probably damaging	1.00
R4298:Sbk3	UTSW	7	4,972,979 (GRCm39)	missense	probably benign	0.05
R5347:Sbk3	UTSW	7	4,970,422 (GRCm39)	missense	probably benign	0.18
R5819:Sbk3	UTSW	7	4,972,996 (GRCm39)	missense	probably benign	0.38
R6535:Sbk3	UTSW	7	4,972,840 (GRCm39)	missense	possibly damaging	0.78
R6957:Sbk3	UTSW	7	4,970,522 (GRCm39)	missense	probably benign
R8360:Sbk3	UTSW	7	4,970,707 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GAGCAGTCTTTTCCAGCCTTG -3'
(R):5'- AGAGGTTATGGCAGACTCCAAG -3'

Sequencing Primer
(F):5'- AGCCTTGCCTTCTCCTGGAG -3'
(R):5'- GGAAAGATCTGTTTCAATCCACAC -3'

Posted On

2021-04-30