Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01776:Stk11ip'

153860

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Stk11ip

Ensembl Gene

ENSMUSG00000026213

Gene Name

serine/threonine kinase 11 interacting protein

Synonyms

1200014D22Rik, LKB1IP, LIP1

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01776

Quality Score

Status

Chromosome

Chromosomal Location

75521529-75537335 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 75527821 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 322 (V322A)

Ref Sequence

ENSEMBL: ENSMUSP00000109182 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027414] [ENSMUST00000113553]

Predicted Effect

probably benign
Transcript: ENSMUST00000027414
AA Change: V322A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213
AA Change: V322A

Domain	Start	End	E-Value	Type
low complexity region	25	41	N/A	INTRINSIC
SCOP:d1h6ua2	74	291	2e-19	SMART
Blast:LRR	208	231	2e-6	BLAST
Blast:LRR	253	276	5e-6	BLAST
Blast:LRR	278	304	2e-8	BLAST
low complexity region	376	386	N/A	INTRINSIC
coiled coil region	495	528	N/A	INTRINSIC
low complexity region	752	767	N/A	INTRINSIC
low complexity region	948	959	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113553
AA Change: V322A

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
AA Change: V322A

Domain	Start	End	E-Value	Type
Pfam:LIP1	4	94	2.9e-45	PFAM
low complexity region	175	194	N/A	INTRINSIC
Blast:LRR	208	231	2e-6	BLAST
Blast:LRR	253	276	5e-6	BLAST
Blast:LRR	278	304	2e-8	BLAST
low complexity region	376	386	N/A	INTRINSIC
coiled coil region	495	528	N/A	INTRINSIC
low complexity region	752	767	N/A	INTRINSIC
low complexity region	948	959	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129794

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140963

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146575

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156838

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd17	G	A	5: 90,283,364	Q854*	probably null	Het
Armc8	A	G	9: 99,526,883		probably benign	Het
Chrna7	A	G	7: 63,099,519	V405A	probably benign	Het
Col8a2	C	A	4: 126,309,805		probably benign	Het
Dcn	A	G	10: 97,495,076	I91V	possibly damaging	Het
Dock7	T	A	4: 98,940,941	R2069S	possibly damaging	Het
Gm7247	A	G	14: 51,521,899	S112G	possibly damaging	Het
Hmcn1	T	G	1: 150,672,038	T2721P	possibly damaging	Het
Hsd3b3	T	C	3: 98,743,847	T96A	probably benign	Het
Ifi207	G	A	1: 173,725,044	L936F	probably damaging	Het
Kcp	G	A	6: 29,497,908	P477S	probably damaging	Het
Mei1	T	C	15: 82,095,932		probably null	Het
Mgmt	T	A	7: 137,121,564	L121*	probably null	Het
Mrps35	G	A	6: 147,070,716	V286I	probably benign	Het
Naxd	T	C	8: 11,505,525		probably null	Het
Pam	A	G	1: 97,885,600		probably null	Het
Plcxd1	G	A	5: 110,101,380		probably benign	Het
Rasgrp1	A	G	2: 117,286,840		probably null	Het
Spag9	C	T	11: 94,116,727		probably benign	Het
Spire2	T	C	8: 123,359,392	S288P	probably damaging	Het
Syt17	A	C	7: 118,409,953	L343R	probably damaging	Het
Tap1	G	A	17: 34,193,128	V436I	possibly damaging	Het
Virma	C	T	4: 11,527,792	R1228C	probably damaging	Het

Other mutations in Stk11ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Stk11ip	APN	1	75530266	missense	probably damaging	1.00
IGL02752:Stk11ip	APN	1	75524681	critical splice acceptor site	probably null
IGL03132:Stk11ip	APN	1	75536089	missense	probably benign	0.00
IGL03188:Stk11ip	APN	1	75534435	missense	probably benign	0.00
R6768_Stk11ip_021	UTSW	1	75532635	missense	probably benign
sienna	UTSW	1	75527355	splice site	probably null
R0234:Stk11ip	UTSW	1	75529067	missense	possibly damaging	0.47
R0234:Stk11ip	UTSW	1	75529067	missense	possibly damaging	0.47
R0617:Stk11ip	UTSW	1	75532288	splice site	probably null
R0712:Stk11ip	UTSW	1	75527447	missense	probably damaging	0.99
R1672:Stk11ip	UTSW	1	75528985	nonsense	probably null
R1694:Stk11ip	UTSW	1	75527386	missense	probably damaging	1.00
R1891:Stk11ip	UTSW	1	75532416	missense	probably benign	0.08
R2061:Stk11ip	UTSW	1	75529584	missense	possibly damaging	0.94
R2094:Stk11ip	UTSW	1	75525521	splice site	probably benign
R2851:Stk11ip	UTSW	1	75529267	splice site	probably benign
R2852:Stk11ip	UTSW	1	75529267	splice site	probably benign
R4765:Stk11ip	UTSW	1	75527155	missense	probably damaging	1.00
R4775:Stk11ip	UTSW	1	75533853	missense	possibly damaging	0.95
R4785:Stk11ip	UTSW	1	75530281	missense	possibly damaging	0.95
R5002:Stk11ip	UTSW	1	75532543	intron	probably benign
R5524:Stk11ip	UTSW	1	75532327	missense	probably damaging	1.00
R5538:Stk11ip	UTSW	1	75528335	missense	probably damaging	1.00
R5849:Stk11ip	UTSW	1	75527355	splice site	probably null
R5927:Stk11ip	UTSW	1	75524691	missense	possibly damaging	0.93
R6053:Stk11ip	UTSW	1	75534255	critical splice donor site	probably null
R6485:Stk11ip	UTSW	1	75529968	missense	possibly damaging	0.47
R6734:Stk11ip	UTSW	1	75532369	missense	probably benign	0.04
R6768:Stk11ip	UTSW	1	75532635	missense	probably benign
R7070:Stk11ip	UTSW	1	75527615	missense	probably benign	0.39
R7882:Stk11ip	UTSW	1	75529464	missense	probably benign	0.03
X0066:Stk11ip	UTSW	1	75534426	missense	probably benign	0.00

Posted On

2014-02-04