Mutagenetix > Incidental Mutation

Incidental Mutation 'R2094:Stk11ip'

231954

Institutional Source

Beutler Lab

Gene Symbol

Stk11ip

Ensembl Gene

ENSMUSG00000026213

Gene Name

serine/threonine kinase 11 interacting protein

Synonyms

1200014D22Rik, LIP1, LKB1IP

MMRRC Submission

040098-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R2094 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75498173-75513979 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 75502165 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000109182 (fasta)

Gene Model

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

AlphaFold

Q3TAA7

Predicted Effect

probably benign
Transcript: ENSMUST00000027414

SMART Domains

Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213

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

SMART Domains

Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213

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: ENSMUST00000154303

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156838

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.4%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A130010J15Rik	A	G	1: 192,857,154 (GRCm39)	I169V	probably benign	Het
Arrdc5	A	G	17: 56,604,856 (GRCm39)	S144P	probably benign	Het
Astn1	A	G	1: 158,495,179 (GRCm39)	M92V	probably benign	Het
Atg5	A	G	10: 44,195,544 (GRCm39)	I189M	probably damaging	Het
Atmin	A	G	8: 117,684,277 (GRCm39)	T646A	probably damaging	Het
Atp1a2	G	A	1: 172,115,000 (GRCm39)	R262W	probably damaging	Het
Atp6v1g2	A	G	17: 35,455,785 (GRCm39)	K16E	probably damaging	Het
Bex6	G	A	16: 32,005,278 (GRCm39)	E29K	possibly damaging	Het
Casd1	A	G	6: 4,608,705 (GRCm39)	Y101C	probably damaging	Het
Ccdc168	A	C	1: 44,098,890 (GRCm39)	I736S	probably benign	Het
Cdx1	T	C	18: 61,168,984 (GRCm39)	D70G	possibly damaging	Het
Cebpz	T	C	17: 79,242,983 (GRCm39)	T224A	probably benign	Het
Cep170b	T	C	12: 112,702,164 (GRCm39)	V319A	possibly damaging	Het
Chrna2	C	T	14: 66,386,912 (GRCm39)	R353W	possibly damaging	Het
Chst5	A	T	8: 112,617,176 (GRCm39)	V148E	probably benign	Het
Clhc1	T	A	11: 29,507,771 (GRCm39)	W162R	probably benign	Het
Csmd1	T	A	8: 16,129,992 (GRCm39)	Q1710L	probably damaging	Het
Ddb1	A	C	19: 10,590,300 (GRCm39)	M276L	probably benign	Het
Dot1l	C	T	10: 80,621,712 (GRCm39)	R455C	probably damaging	Het
Dync2h1	A	G	9: 7,148,735 (GRCm39)	V903A	probably benign	Het
Eno1b	T	C	18: 48,180,542 (GRCm39)	V240A	possibly damaging	Het
Erich1	T	G	8: 14,140,527 (GRCm39)		probably benign	Het
Ermp1	A	C	19: 29,617,328 (GRCm39)	S227A	probably benign	Het
Etv1	C	A	12: 38,885,115 (GRCm39)	P143Q	probably null	Het
Gimap8	A	T	6: 48,627,502 (GRCm39)	I159F	probably benign	Het
Gpr4	G	A	7: 18,956,503 (GRCm39)	V142M	possibly damaging	Het
Gucy1a1	C	T	3: 82,020,639 (GRCm39)	C86Y	probably benign	Het
Ifngr2	T	G	16: 91,358,667 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,710,488 (GRCm39)	N398I	probably damaging	Het
Iws1	A	G	18: 32,217,719 (GRCm39)	E441G	probably damaging	Het
Larp7-ps	A	G	4: 92,079,893 (GRCm39)	S32P	probably damaging	Het
Megf10	A	T	18: 57,414,785 (GRCm39)	K732*	probably null	Het
Mprip	T	A	11: 59,640,334 (GRCm39)		probably benign	Het
Mrgprb8	T	C	7: 48,038,953 (GRCm39)	V208A	probably benign	Het
Msc	G	C	1: 14,825,908 (GRCm39)	P22R	probably benign	Het
Opcml	G	A	9: 28,812,886 (GRCm39)	E193K	probably damaging	Het
Or4k15b	A	T	14: 50,272,171 (GRCm39)	S230T	probably damaging	Het
Oxsr1	A	C	9: 119,123,560 (GRCm39)	H71Q	probably benign	Het
Pkp2	T	A	16: 16,064,831 (GRCm39)	W452R	probably damaging	Het
Prrc2b	C	T	2: 32,072,582 (GRCm39)	T20I	probably damaging	Het
Rasgrp3	T	C	17: 75,810,136 (GRCm39)	S279P	probably damaging	Het
Rtl1	T	A	12: 109,557,831 (GRCm39)	D1336V	unknown	Het
Serpina3m	G	T	12: 104,355,529 (GRCm39)	K65N	probably benign	Het
Serpine2	A	G	1: 79,788,411 (GRCm39)	V182A	probably damaging	Het
Slc10a1	A	G	12: 81,002,822 (GRCm39)	V272A	possibly damaging	Het
Slc25a29	A	T	12: 108,793,358 (GRCm39)	N73K	probably damaging	Het
Slit1	G	A	19: 41,594,819 (GRCm39)	R1184W	probably damaging	Het
Srrm2	T	C	17: 24,031,403 (GRCm39)		probably benign	Het
Tcerg1	A	G	18: 42,697,210 (GRCm39)	K767R	possibly damaging	Het
Tmem82	T	C	4: 141,343,598 (GRCm39)	K224R	probably benign	Het
Tmprss11g	A	G	5: 86,647,415 (GRCm39)	L41S	probably damaging	Het
Trim42	T	C	9: 97,248,150 (GRCm39)	N182S	probably benign	Het
Ttn	T	C	2: 76,660,432 (GRCm39)	T7430A	probably benign	Het
Wwp1	T	C	4: 19,650,390 (GRCm39)	T259A	probably benign	Het

Other mutations in Stk11ip

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00961:Stk11ip	APN	1	75,506,910 (GRCm39)	missense	probably damaging	1.00
IGL01776:Stk11ip	APN	1	75,504,465 (GRCm39)	missense	probably benign	0.02
IGL02752:Stk11ip	APN	1	75,501,325 (GRCm39)	critical splice acceptor site	probably null
IGL03132:Stk11ip	APN	1	75,512,733 (GRCm39)	missense	probably benign	0.00
IGL03188:Stk11ip	APN	1	75,511,079 (GRCm39)	missense	probably benign	0.00
R6768_Stk11ip_021	UTSW	1	75,509,279 (GRCm39)	missense	probably benign
sienna	UTSW	1	75,503,999 (GRCm39)	splice site	probably null
R0234:Stk11ip	UTSW	1	75,505,711 (GRCm39)	missense	possibly damaging	0.47
R0234:Stk11ip	UTSW	1	75,505,711 (GRCm39)	missense	possibly damaging	0.47
R0617:Stk11ip	UTSW	1	75,508,932 (GRCm39)	splice site	probably null
R0712:Stk11ip	UTSW	1	75,504,091 (GRCm39)	missense	probably damaging	0.99
R1672:Stk11ip	UTSW	1	75,505,629 (GRCm39)	nonsense	probably null
R1694:Stk11ip	UTSW	1	75,504,030 (GRCm39)	missense	probably damaging	1.00
R1891:Stk11ip	UTSW	1	75,509,060 (GRCm39)	missense	probably benign	0.08
R2061:Stk11ip	UTSW	1	75,506,228 (GRCm39)	missense	possibly damaging	0.94
R2851:Stk11ip	UTSW	1	75,505,911 (GRCm39)	splice site	probably benign
R2852:Stk11ip	UTSW	1	75,505,911 (GRCm39)	splice site	probably benign
R4765:Stk11ip	UTSW	1	75,503,799 (GRCm39)	missense	probably damaging	1.00
R4775:Stk11ip	UTSW	1	75,510,497 (GRCm39)	missense	possibly damaging	0.95
R4785:Stk11ip	UTSW	1	75,506,925 (GRCm39)	missense	possibly damaging	0.95
R5002:Stk11ip	UTSW	1	75,509,187 (GRCm39)	intron	probably benign
R5524:Stk11ip	UTSW	1	75,508,971 (GRCm39)	missense	probably damaging	1.00
R5538:Stk11ip	UTSW	1	75,504,979 (GRCm39)	missense	probably damaging	1.00
R5849:Stk11ip	UTSW	1	75,503,999 (GRCm39)	splice site	probably null
R5927:Stk11ip	UTSW	1	75,501,335 (GRCm39)	missense	possibly damaging	0.93
R6053:Stk11ip	UTSW	1	75,510,899 (GRCm39)	critical splice donor site	probably null
R6485:Stk11ip	UTSW	1	75,506,612 (GRCm39)	missense	possibly damaging	0.47
R6734:Stk11ip	UTSW	1	75,509,013 (GRCm39)	missense	probably benign	0.04
R6768:Stk11ip	UTSW	1	75,509,279 (GRCm39)	missense	probably benign
R7070:Stk11ip	UTSW	1	75,504,259 (GRCm39)	missense	probably benign	0.39
R7882:Stk11ip	UTSW	1	75,506,108 (GRCm39)	missense	probably benign	0.03
R8804:Stk11ip	UTSW	1	75,511,900 (GRCm39)	missense	probably benign	0.15
R9086:Stk11ip	UTSW	1	75,506,818 (GRCm39)	missense	possibly damaging	0.76
R9642:Stk11ip	UTSW	1	75,510,899 (GRCm39)	critical splice donor site	probably null
R9648:Stk11ip	UTSW	1	75,505,585 (GRCm39)	missense	probably damaging	0.99
X0066:Stk11ip	UTSW	1	75,511,070 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCCCCATCAGAAGTTAGGGATG -3'
(R):5'- CGCAGCTCTGAAGAAAGCTC -3'

Sequencing Primer
(F):5'- ATCAGAAGTTAGGGATGAGGCCTTTG -3'
(R):5'- GCTCAAGGCTCTGTCCCTAAAGAG -3'

Posted On

2014-09-18