Mutagenetix > Incidental Mutation

Incidental Mutation 'R7584:Lrif1'

586950

Institutional Source

Beutler Lab

Gene Symbol

Lrif1

Ensembl Gene

ENSMUSG00000056260

Gene Name

ligand dependent nuclear receptor interacting factor 1

Synonyms

4933421E11Rik, 2010012G17Rik

MMRRC Submission

045667-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R7584 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

106592303-106643893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106639217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 76 (T76A)

Ref Sequence

ENSEMBL: ENSMUSP00000115110 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000098750] [ENSMUST00000098751] [ENSMUST00000106736] [ENSMUST00000127003] [ENSMUST00000130105] [ENSMUST00000150513] [ENSMUST00000154973]

AlphaFold

Q8CDD9

Predicted Effect

probably benign
Transcript: ENSMUST00000098750
AA Change: T101A

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: T101A

Domain	Start	End	E-Value	Type
Pfam:LRIF1	22	753	1.7e-292	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000098751

SMART Domains

Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260

Domain	Start	End	E-Value	Type
low complexity region	104	117	N/A	INTRINSIC
coiled coil region	225	257	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106736

SMART Domains

Protein: ENSMUSP00000102347
Gene: ENSMUSG00000056260

Domain	Start	End	E-Value	Type
low complexity region	84	97	N/A	INTRINSIC
coiled coil region	205	237	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000127003
AA Change: T101A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000114163
Gene: ENSMUSG00000056260
AA Change: T101A

Domain	Start	End	E-Value	Type
low complexity region	74	92	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000130105
AA Change: T76A

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000115110
Gene: ENSMUSG00000056260
AA Change: T76A

Domain	Start	End	E-Value	Type
low complexity region	49	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150513
AA Change: T76A

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000119815
Gene: ENSMUSG00000056260
AA Change: T76A

Domain	Start	End	E-Value	Type
low complexity region	49	67	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000154973
AA Change: T76A

PolyPhen 2 Score 0.325 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000120350
Gene: ENSMUSG00000056260
AA Change: T76A

Domain	Start	End	E-Value	Type
low complexity region	49	67	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

99% (74/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	A	G	17: 46,626,304 (GRCm39)		probably null	Het
Actrt3	T	C	3: 30,652,356 (GRCm39)	K246R	probably benign	Het
Adam23	T	A	1: 63,584,621 (GRCm39)	V343D	probably damaging	Het
Ak2	T	C	4: 128,893,005 (GRCm39)	S55P	probably damaging	Het
Ank2	G	A	3: 126,739,777 (GRCm39)	Q2036*	probably null	Het
Ano10	A	G	9: 122,104,597 (GRCm39)	I40T	probably benign	Het
Aoc2	T	A	11: 101,217,005 (GRCm39)	C363S	possibly damaging	Het
Aplp2	A	T	9: 31,069,077 (GRCm39)	V584E	possibly damaging	Het
Arhgap32	A	T	9: 32,168,263 (GRCm39)	T749S	probably benign	Het
Atm	A	T	9: 53,424,427 (GRCm39)	F625I	probably damaging	Het
Atr	T	C	9: 95,824,766 (GRCm39)	L2387P	probably damaging	Het
Barhl1	C	T	2: 28,799,803 (GRCm39)	G274D	probably damaging	Het
Bcl2a1a	A	T	9: 88,839,345 (GRCm39)	D81V	probably damaging	Het
Ccdc63	T	G	5: 122,251,267 (GRCm39)	D381A	possibly damaging	Het
Col12a1	A	G	9: 79,610,578 (GRCm39)		probably null	Het
Crat	C	T	2: 30,294,577 (GRCm39)	R497Q	probably benign	Het
Cyp4b1	T	A	4: 115,485,884 (GRCm39)	D351V	probably damaging	Het
D130043K22Rik	A	G	13: 25,056,353 (GRCm39)	S562G	probably damaging	Het
Dgkb	T	A	12: 38,189,391 (GRCm39)		probably null	Het
Dmbt1	C	T	7: 130,690,481 (GRCm39)	Q905*	probably null	Het
Dnajc21	A	C	15: 10,462,381 (GRCm39)	Y81*	probably null	Het
Dnali1	T	C	4: 124,959,331 (GRCm39)	T21A	probably benign	Het
Dpp8	A	T	9: 64,986,064 (GRCm39)	L851F	probably damaging	Het
Dpt	T	C	1: 164,646,477 (GRCm39)	Y149H	probably benign	Het
Ep300	T	C	15: 81,512,627 (GRCm39)	V983A	unknown	Het
Faf1	C	T	4: 109,783,154 (GRCm39)	R549C	probably damaging	Het
Gcm1	A	G	9: 77,971,749 (GRCm39)	N230S	possibly damaging	Het
Gm10803	T	A	2: 93,394,513 (GRCm39)	I95N	probably damaging	Het
Hectd4	T	A	5: 121,456,798 (GRCm39)	I721N	possibly damaging	Het
Hsp90ab1	T	C	17: 45,881,197 (GRCm39)	H315R	probably damaging	Het
Igkv10-95	T	A	6: 68,657,740 (GRCm39)	S85R	possibly damaging	Het
Katnip	G	T	7: 125,469,838 (GRCm39)	V1436L	probably damaging	Het
Kcnq5	T	C	1: 21,472,545 (GRCm39)	T901A	probably benign	Het
Kremen1	C	T	11: 5,144,964 (GRCm39)	V471M	possibly damaging	Het
Lama2	C	A	10: 26,980,257 (GRCm39)	D1853Y	possibly damaging	Het
Lrrtm2	T	A	18: 35,345,818 (GRCm39)	I495F	possibly damaging	Het
Ltbr	G	T	6: 125,284,204 (GRCm39)	Q413K	probably benign	Het
Ms4a20	A	G	19: 11,087,725 (GRCm39)	F69L	possibly damaging	Het
Myrfl	T	A	10: 116,664,902 (GRCm39)	Y376F	probably damaging	Het
Nup50l	A	C	6: 96,142,373 (GRCm39)	L224V	probably benign	Het
Nup98	G	T	7: 101,825,596 (GRCm39)	N414K	probably benign	Het
Nynrin	A	G	14: 56,109,041 (GRCm39)	T1383A	probably damaging	Het
Or4c15	G	A	2: 88,760,149 (GRCm39)	P170L	probably damaging	Het
Or5j1	A	T	2: 86,879,478 (GRCm39)	I34N	probably benign	Het
Or6c208	T	A	10: 129,223,901 (GRCm39)	I133N	probably damaging	Het
Or7g27	C	A	9: 19,250,569 (GRCm39)	T271K	possibly damaging	Het
Or8b1d	G	T	9: 38,558,191 (GRCm39)	P210T	possibly damaging	Het
Pcdhb5	T	A	18: 37,455,425 (GRCm39)	S602T	possibly damaging	Het
Sall3	A	G	18: 81,017,745 (GRCm39)	F61S	probably benign	Het
Scube1	G	T	15: 83,606,088 (GRCm39)	C61*	probably null	Het
Sec31b	T	C	19: 44,519,995 (GRCm39)		probably null	Het
Sec31b	T	C	19: 44,531,762 (GRCm39)	D49G	probably damaging	Het
Skic2	A	G	17: 35,060,651 (GRCm39)	I822T	possibly damaging	Het
Slc19a3	C	T	1: 83,000,469 (GRCm39)	V183M	possibly damaging	Het
Slc41a2	T	C	10: 83,152,653 (GRCm39)		probably benign	Het
Sphk2	C	A	7: 45,361,931 (GRCm39)	V169L	probably damaging	Het
Synpo	C	A	18: 60,729,349 (GRCm39)	R951L	probably damaging	Het
Tbc1d9b	G	A	11: 50,061,543 (GRCm39)	C1017Y	probably damaging	Het
Tmtc4	C	A	14: 123,215,563 (GRCm39)	V28F	probably benign	Het
Tprkb	A	G	6: 85,905,809 (GRCm39)	I165V	probably benign	Het
Ttc23l	T	A	15: 10,533,794 (GRCm39)	I250F	probably damaging	Het
Tut4	T	C	4: 108,336,543 (GRCm39)	V89A	probably benign	Het
Ubr3	G	A	2: 69,821,847 (GRCm39)	V1370I	probably damaging	Het
Ush2a	A	G	1: 188,460,306 (GRCm39)		probably null	Het
Usp9y	T	C	Y: 1,384,451 (GRCm39)	Y689C	probably damaging	Het
Vmn1r56	A	T	7: 5,198,895 (GRCm39)	Y241N	probably damaging	Het
Vmn2r6	T	C	3: 64,472,683 (GRCm39)	T13A	probably benign	Het
Vmn2r92	T	A	17: 18,387,028 (GRCm39)	N122K	probably benign	Het
Vps9d1	A	G	8: 123,977,456 (GRCm39)	F131S	probably damaging	Het
Vwa8	A	C	14: 79,219,674 (GRCm39)		probably null	Het
Wfdc16	A	T	2: 164,480,547 (GRCm39)		probably null	Het
Zbtb41	T	A	1: 139,351,795 (GRCm39)	Y303N	probably benign	Het
Zbtb5	T	C	4: 44,993,678 (GRCm39)	T569A	probably benign	Het
Zfp111	A	G	7: 23,898,025 (GRCm39)	S530P	possibly damaging	Het

Other mutations in Lrif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Lrif1	APN	3	106,641,957 (GRCm39)	critical splice donor site	probably null
IGL01121:Lrif1	APN	3	106,642,980 (GRCm39)	nonsense	probably null
IGL01304:Lrif1	APN	3	106,639,049 (GRCm39)	missense	probably damaging	1.00
IGL02209:Lrif1	APN	3	106,639,045 (GRCm39)	missense	probably damaging	1.00
IGL02801:Lrif1	APN	3	106,641,930 (GRCm39)	missense	possibly damaging	0.89
IGL02796:Lrif1	UTSW	3	106,642,752 (GRCm39)	missense	probably benign	0.25
R0440:Lrif1	UTSW	3	106,641,714 (GRCm39)	missense	possibly damaging	0.87
R0456:Lrif1	UTSW	3	106,639,094 (GRCm39)	missense	probably benign	0.06
R0561:Lrif1	UTSW	3	106,639,481 (GRCm39)	missense	probably damaging	1.00
R1160:Lrif1	UTSW	3	106,640,033 (GRCm39)	missense	possibly damaging	0.95
R1720:Lrif1	UTSW	3	106,640,452 (GRCm39)	missense	probably damaging	1.00
R1735:Lrif1	UTSW	3	106,643,162 (GRCm39)	makesense	probably null
R1843:Lrif1	UTSW	3	106,640,127 (GRCm39)	missense	probably damaging	0.99
R2016:Lrif1	UTSW	3	106,639,522 (GRCm39)	missense	possibly damaging	0.94
R2200:Lrif1	UTSW	3	106,641,874 (GRCm39)	missense	probably damaging	0.98
R3619:Lrif1	UTSW	3	106,639,862 (GRCm39)	missense	probably damaging	1.00
R4750:Lrif1	UTSW	3	106,642,880 (GRCm39)	missense	probably benign	0.33
R4878:Lrif1	UTSW	3	106,642,956 (GRCm39)	missense	probably damaging	1.00
R4945:Lrif1	UTSW	3	106,643,069 (GRCm39)	missense	probably damaging	1.00
R5286:Lrif1	UTSW	3	106,639,859 (GRCm39)	missense	probably damaging	0.97
R5682:Lrif1	UTSW	3	106,639,884 (GRCm39)	missense	possibly damaging	0.70
R6149:Lrif1	UTSW	3	106,639,643 (GRCm39)	missense	possibly damaging	0.83
R6665:Lrif1	UTSW	3	106,642,659 (GRCm39)	splice site	probably null
R7011:Lrif1	UTSW	3	106,639,601 (GRCm39)	missense	probably damaging	1.00
R7869:Lrif1	UTSW	3	106,640,459 (GRCm39)	critical splice donor site	probably null
R8247:Lrif1	UTSW	3	106,641,692 (GRCm39)	missense	probably damaging	1.00
R8686:Lrif1	UTSW	3	106,640,097 (GRCm39)	missense	probably damaging	1.00
R9001:Lrif1	UTSW	3	106,641,860 (GRCm39)	missense	probably benign	0.00
R9347:Lrif1	UTSW	3	106,641,674 (GRCm39)	missense	possibly damaging	0.71
R9612:Lrif1	UTSW	3	106,639,200 (GRCm39)	missense	probably damaging	0.99
Z1088:Lrif1	UTSW	3	106,639,886 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTTCCTACGATTGGCAGCG -3'
(R):5'- CACATTTGGTAGGAGACTTGGG -3'

Sequencing Primer
(F):5'- AAACTTCTGCAATTACTTCCAATTTC -3'
(R):5'- CATTTGGTAGGAGACTTGGGGTATTG -3'

Posted On

2019-10-24