Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01595:Sbk2'

93375

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Sbk2

Ensembl Gene

ENSMUSG00000030433

Gene Name

SH3-binding domain kinase family, member 2

Synonyms

LOC381836

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01595

Quality Score

Status

Chromosome

Chromosomal Location

4959133-4967405 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 4960712 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 153 (V153L)

Ref Sequence

ENSEMBL: ENSMUSP00000138187 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032598] [ENSMUST00000182214] [ENSMUST00000183170] [ENSMUST00000208109]

AlphaFold

P0C5K1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000032598
AA Change: V153L

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000032598
Gene: ENSMUSG00000030433
AA Change: V153L

Domain	Start	End	E-Value	Type
low complexity region	15	50	N/A	INTRINSIC
Pfam:Pkinase_Tyr	62	296	2.8e-21	PFAM
Pfam:Pkinase	62	329	1.5e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000182214
AA Change: V153L

PolyPhen 2 Score 0.831 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138504
Gene: ENSMUSG00000030433
AA Change: V153L

Domain	Start	End	E-Value	Type
low complexity region	15	50	N/A	INTRINSIC
Pfam:Pkinase_Tyr	62	296	3.7e-21	PFAM
Pfam:Pkinase	62	329	6.8e-40	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000182837

Predicted Effect

possibly damaging
Transcript: ENSMUST00000183170
AA Change: V153L

PolyPhen 2 Score 0.863 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000138187
Gene: ENSMUSG00000030433
AA Change: V153L

Domain	Start	End	E-Value	Type
low complexity region	15	50	N/A	INTRINSIC
Pfam:Pkinase_Tyr	62	211	1.9e-18	PFAM
Pfam:Pkinase	62	212	3.2e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000208109

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acbd5	A	G	2: 22,968,181 (GRCm39)	M111V	probably damaging	Het
Adamts14	A	T	10: 61,041,252 (GRCm39)	H819Q	probably damaging	Het
Adamts7	T	A	9: 90,075,359 (GRCm39)	N1072K	probably benign	Het
Ahnak	T	A	19: 8,980,865 (GRCm39)	Y716*	probably null	Het
Arfgef3	T	C	10: 18,470,660 (GRCm39)	K1702E	possibly damaging	Het
BB014433	C	A	8: 15,092,499 (GRCm39)		probably null	Het
Bdnf	A	T	2: 109,554,273 (GRCm39)	K176*	probably null	Het
C2cd5	C	T	6: 142,963,748 (GRCm39)	R879H	probably damaging	Het
Capn11	T	A	17: 45,950,360 (GRCm39)	H327L	probably benign	Het
Ccdc68	A	G	18: 70,089,117 (GRCm39)	N220S	probably benign	Het
Cftr	T	C	6: 18,198,238 (GRCm39)		probably benign	Het
Clca3a2	G	A	3: 144,793,768 (GRCm39)	L296F	probably damaging	Het
Cubn	A	T	2: 13,330,027 (GRCm39)	L2618Q	probably benign	Het
Gfi1b	A	G	2: 28,501,429 (GRCm39)		probably null	Het
Gpr37	G	T	6: 25,669,572 (GRCm39)	T424N	probably damaging	Het
Kank3	G	A	17: 34,038,154 (GRCm39)		probably null	Het
Kcnh5	T	C	12: 74,945,101 (GRCm39)	Q716R	probably benign	Het
Kntc1	G	A	5: 123,941,758 (GRCm39)	M1817I	probably benign	Het
Krt79	T	G	15: 101,840,206 (GRCm39)	E330A	probably damaging	Het
Mapk15	C	A	15: 75,867,129 (GRCm39)	P82Q	probably benign	Het
Myh15	A	T	16: 48,993,312 (GRCm39)	D1649V	probably damaging	Het
Myo1d	T	C	11: 80,566,936 (GRCm39)	I326V	probably benign	Het
Nek9	A	T	12: 85,361,194 (GRCm39)	W504R	probably damaging	Het
Nlrp4c	T	A	7: 6,069,111 (GRCm39)	C337*	probably null	Het
Nup160	A	G	2: 90,560,081 (GRCm39)	N1269D	probably damaging	Het
Or52e3	A	G	7: 102,869,558 (GRCm39)	D211G	probably damaging	Het
Or56b2	T	C	7: 104,337,285 (GRCm39)	M21T	possibly damaging	Het
Or8c10	T	C	9: 38,279,346 (GRCm39)	V168A	probably benign	Het
Pde6a	A	G	18: 61,414,599 (GRCm39)	M36V	probably damaging	Het
Perp	A	G	10: 18,731,407 (GRCm39)	Q122R	probably damaging	Het
S100a7a	T	C	3: 90,565,107 (GRCm39)	Y101H	probably benign	Het
Serpinb7	A	T	1: 107,356,052 (GRCm39)	N25I	probably damaging	Het
Tbx5	A	T	5: 119,978,903 (GRCm39)	D105V	probably damaging	Het
Trip6	T	A	5: 137,311,675 (GRCm39)	T101S	probably benign	Het
Ush2a	T	A	1: 188,386,921 (GRCm39)		probably null	Het

Other mutations in Sbk2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01419:Sbk2	APN	7	4,960,528 (GRCm39)	missense	probably damaging	1.00
IGL01688:Sbk2	APN	7	4,960,716 (GRCm39)	intron	probably benign
IGL02901:Sbk2	APN	7	4,960,289 (GRCm39)	missense	possibly damaging	0.66
IGL03392:Sbk2	APN	7	4,960,408 (GRCm39)	missense	probably damaging	1.00
R1714:Sbk2	UTSW	7	4,966,121 (GRCm39)	missense	probably benign	0.15
R2679:Sbk2	UTSW	7	4,960,119 (GRCm39)	splice site	probably null
R3158:Sbk2	UTSW	7	4,960,526 (GRCm39)	nonsense	probably null
R4088:Sbk2	UTSW	7	4,960,627 (GRCm39)	missense	probably damaging	1.00
R4709:Sbk2	UTSW	7	4,960,577 (GRCm39)	missense	possibly damaging	0.79
R5211:Sbk2	UTSW	7	4,965,966 (GRCm39)	missense	possibly damaging	0.89
R5906:Sbk2	UTSW	7	4,960,627 (GRCm39)	missense	probably damaging	1.00
R6393:Sbk2	UTSW	7	4,960,621 (GRCm39)	missense	probably damaging	1.00
R6967:Sbk2	UTSW	7	4,967,146 (GRCm39)	critical splice donor site	probably null
R7045:Sbk2	UTSW	7	4,961,905 (GRCm39)	missense	probably damaging	0.99
R7537:Sbk2	UTSW	7	4,966,148 (GRCm39)	missense	probably benign	0.02
R7810:Sbk2	UTSW	7	4,961,938 (GRCm39)	missense	probably damaging	1.00
R8058:Sbk2	UTSW	7	4,960,289 (GRCm39)	missense	possibly damaging	0.66
R9304:Sbk2	UTSW	7	4,960,507 (GRCm39)	missense	probably damaging	0.96
R9507:Sbk2	UTSW	7	4,960,277 (GRCm39)	missense	possibly damaging	0.94
R9749:Sbk2	UTSW	7	4,960,333 (GRCm39)	missense	probably benign	0.08

Posted On

2013-12-09