Mutagenetix > Incidental Mutation

Incidental Mutation 'R5927:Stk11ip'

459919

Institutional Source

Beutler Lab

Gene Symbol

Stk11ip

Ensembl Gene

ENSMUSG00000026213

Gene Name

serine/threonine kinase 11 interacting protein

Synonyms

1200014D22Rik, LIP1, LKB1IP

MMRRC Submission

044122-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5927 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75498173-75513979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 75501335 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 24 (V24I)

Ref Sequence

ENSEMBL: ENSMUSP00000109182 (fasta)

Gene Model

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

AlphaFold

Q3TAA7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027414
AA Change: V24I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000027414
Gene: ENSMUSG00000026213
AA Change: V24I

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

possibly damaging
Transcript: ENSMUST00000113553
AA Change: V24I

PolyPhen 2 Score 0.927 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000109182
Gene: ENSMUSG00000026213
AA Change: V24I

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

Meta Mutation Damage Score

0.1054

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadm	T	A	3: 153,644,745 (GRCm39)	I60F	probably damaging	Het
Ankrd26	A	G	6: 118,484,597 (GRCm39)		probably null	Het
Arhgdib	A	T	6: 136,901,136 (GRCm39)	W198R	probably damaging	Het
Atad5	T	A	11: 80,018,111 (GRCm39)	I1354N	probably damaging	Het
Ccdc146	T	A	5: 21,513,619 (GRCm39)	K500*	probably null	Het
Cdk11b	G	A	4: 155,732,697 (GRCm39)		probably benign	Het
Cmip	A	T	8: 117,984,048 (GRCm39)	T70S	possibly damaging	Het
Col22a1	G	T	15: 71,878,815 (GRCm39)	A114E	probably damaging	Het
Cpeb1	T	C	7: 81,011,428 (GRCm39)	D171G	possibly damaging	Het
Crebzf	C	T	7: 90,093,531 (GRCm39)		probably benign	Het
Cybb	C	G	X: 9,316,989 (GRCm39)	D246H	probably benign	Het
D630036H23Rik	C	A	12: 36,431,671 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,335,864 (GRCm39)	T2277S	probably benign	Het
Dysf	T	A	6: 84,184,194 (GRCm39)	F2083Y	probably damaging	Het
Elavl4	T	A	4: 110,147,440 (GRCm39)		probably benign	Het
Elp3	A	G	14: 65,819,626 (GRCm39)	Y111H	probably damaging	Het
Eps8l2	A	T	7: 140,936,259 (GRCm39)	Q243L	probably benign	Het
Eri2	C	A	7: 119,385,291 (GRCm39)	L403F	probably damaging	Het
Fgfr4	T	A	13: 55,314,700 (GRCm39)	N614K	probably damaging	Het
Gm5108	T	G	5: 68,134,214 (GRCm39)	I74S	unknown	Het
Gpn1	T	C	5: 31,658,235 (GRCm39)	F130L	probably damaging	Het
Gpr176	T	A	2: 118,203,521 (GRCm39)	I50F	probably benign	Het
Gramd1a	A	G	7: 30,839,246 (GRCm39)	S221P	probably benign	Het
Hivep3	A	G	4: 119,954,305 (GRCm39)	T874A	possibly damaging	Het
Igkv12-40	A	G	6: 69,856,383 (GRCm39)		noncoding transcript	Het
Itgb2	C	A	10: 77,381,868 (GRCm39)	P57T	probably damaging	Het
Kcmf1	T	A	6: 72,819,988 (GRCm39)	D286V	possibly damaging	Het
Kcnt1	T	A	2: 25,799,388 (GRCm39)		probably benign	Het
Kif15	A	G	9: 122,846,326 (GRCm39)	S76G	probably benign	Het
Kpna3	C	T	14: 61,622,096 (GRCm39)	V223I	probably damaging	Het
Krt80	A	G	15: 101,262,089 (GRCm39)		probably benign	Het
Lama4	A	G	10: 38,948,808 (GRCm39)	Y857C	probably damaging	Het
Lcorl	G	T	5: 45,882,766 (GRCm39)		probably benign	Het
Map4k3	A	G	17: 80,921,348 (GRCm39)	V528A	probably benign	Het
Mmp8	T	A	9: 7,563,203 (GRCm39)	N255K	possibly damaging	Het
Npat	A	T	9: 53,473,521 (GRCm39)	K438*	probably null	Het
Or4a73	T	A	2: 89,421,444 (GRCm39)	N5I	possibly damaging	Het
P4htm	T	C	9: 108,474,582 (GRCm39)	Y61C	probably damaging	Het
Pgap6	T	C	17: 26,340,972 (GRCm39)	Y692H	probably benign	Het
Polr3h	G	T	15: 81,801,480 (GRCm39)		probably null	Het
Prlr	C	T	15: 10,322,532 (GRCm39)	T176I	probably benign	Het
Psme4	T	G	11: 30,754,294 (GRCm39)	F184V	possibly damaging	Het
Ptgfrn	A	T	3: 100,967,968 (GRCm39)	F542I	possibly damaging	Het
Rock1	T	C	18: 10,116,792 (GRCm39)	E448G	probably damaging	Het
Rpf1	A	T	3: 146,225,218 (GRCm39)		probably null	Het
Sectm1b	T	C	11: 120,946,500 (GRCm39)	I132V	probably benign	Het
Sestd1	T	A	2: 77,017,503 (GRCm39)	H688L	probably benign	Het
Sidt2	T	C	9: 45,855,752 (GRCm39)	Y530C	probably damaging	Het
Sin3a	A	T	9: 57,018,395 (GRCm39)	K938M	probably damaging	Het
Sin3b	C	A	8: 73,476,506 (GRCm39)	R647S	probably benign	Het
Slc16a14	T	C	1: 84,889,988 (GRCm39)	H439R	possibly damaging	Het
Stc1	T	C	14: 69,269,822 (GRCm39)	V134A	probably benign	Het
Tbx6	G	A	7: 126,384,025 (GRCm39)	A359T	possibly damaging	Het
Thra	G	A	11: 98,654,514 (GRCm39)	V295I	possibly damaging	Het
Tnr	T	C	1: 159,740,336 (GRCm39)	M1170T	probably damaging	Het
Tpcn2	T	A	7: 144,832,521 (GRCm39)	I112F	probably damaging	Het
Trdv2-2	T	C	14: 54,198,998 (GRCm39)	L96P	probably damaging	Het
Trim24	T	A	6: 37,935,504 (GRCm39)	W832R	probably damaging	Het
Usp4	T	G	9: 108,268,959 (GRCm39)	S891A	probably benign	Het
Vmn1r88	A	T	7: 12,912,440 (GRCm39)	R265S	probably benign	Het
Vmn2r118	A	G	17: 55,931,494 (GRCm39)	L60S	probably benign	Het
Wdr74	T	C	19: 8,717,197 (GRCm39)	C220R	possibly damaging	Het
Xpo1	A	T	11: 23,218,653 (GRCm39)		probably benign	Het
Xpo1	A	T	11: 23,218,656 (GRCm39)		probably benign	Het
Zfp850	C	A	7: 27,689,620 (GRCm39)	G196V	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
R2094:Stk11ip	UTSW	1	75,502,165 (GRCm39)	splice site	probably benign
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
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'- TTCTGGTATCAGGCTGAAAGG -3'
(R):5'- TTTCTGCAGCACATCGAAGAG -3'

Sequencing Primer
(F):5'- CTGAAAGGCTAGGATTTTTGCTC -3'
(R):5'- CAGCACATCGAAGAGGAACTG -3'

Posted On

2017-02-28