Mutagenetix > Incidental Mutation

Incidental Mutation 'R9347:Lrif1'

707835

Institutional Source

Beutler Lab

Gene Symbol

Lrif1

Ensembl Gene

ENSMUSG00000056260

Gene Name

ligand dependent nuclear receptor interacting factor 1

Synonyms

4933421E11Rik, 2010012G17Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.072) question?

Stock #

R9347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106592303-106643893 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106641674 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 17 (T17A)

Ref Sequence

ENSEMBL: ENSMUSP00000096347 (fasta)

Gene Model

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

AlphaFold

Q8CDD9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098750
AA Change: T515A

PolyPhen 2 Score 0.495 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: T515A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098751
AA Change: T17A

PolyPhen 2 Score 0.707 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260
AA Change: T17A

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

SMART Domains

Protein: ENSMUSP00000114163
Gene: ENSMUSG00000056260

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

Predicted Effect

probably benign
Transcript: ENSMUST00000130105

SMART Domains

Protein: ENSMUSP00000115110
Gene: ENSMUSG00000056260

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

Predicted Effect

probably benign
Transcript: ENSMUST00000150513

SMART Domains

Protein: ENSMUSP00000119815
Gene: ENSMUSG00000056260

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154973

SMART Domains

Protein: ENSMUSP00000120350
Gene: ENSMUSG00000056260

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	A	T	17: 24,483,479 (GRCm39)	M1659K	probably benign	Het
Ace	C	A	11: 105,864,958 (GRCm39)	Q544K	probably damaging	Het
Agpat4	A	G	17: 12,429,168 (GRCm39)	E140G	possibly damaging	Het
Akap12	A	G	10: 4,303,640 (GRCm39)	D150G	probably benign	Het
Akap6	A	G	12: 53,115,894 (GRCm39)	Y999C	probably damaging	Het
Ank1	A	G	8: 23,607,076 (GRCm39)	I1326V	possibly damaging	Het
Apold1	T	A	6: 134,960,999 (GRCm39)	L151Q	probably damaging	Het
Bmal1	A	G	7: 112,898,487 (GRCm39)	D305G	possibly damaging	Het
Brsk2	A	G	7: 141,552,133 (GRCm39)	S564G	probably damaging	Het
Ceacam18	T	C	7: 43,294,915 (GRCm39)	V325A	possibly damaging	Het
Clstn2	T	C	9: 97,464,654 (GRCm39)	Y167C	probably damaging	Het
Cyp11a1	G	T	9: 57,928,141 (GRCm39)	V324L	possibly damaging	Het
Ddx27	A	G	2: 166,861,950 (GRCm39)	T151A	possibly damaging	Het
Dhrs4	A	G	14: 55,727,306 (GRCm39)	I252M	possibly damaging	Het
Dlg2	A	G	7: 91,360,900 (GRCm39)	D6G	probably benign	Het
Dnah8	G	A	17: 30,927,333 (GRCm39)	E1330K	probably benign	Het
Ehd3	A	G	17: 74,137,391 (GRCm39)	E520G	probably benign	Het
Epha5	A	G	5: 84,479,731 (GRCm39)	V91A	possibly damaging	Het
Fam20c	C	A	5: 138,743,676 (GRCm39)	H237Q	probably benign	Het
Fam217a	C	T	13: 35,094,662 (GRCm39)	G366S	probably damaging	Het
Fancf	T	C	7: 51,511,359 (GRCm39)	E215G	probably benign	Het
Fermt3	A	T	19: 6,980,664 (GRCm39)	I301N	probably damaging	Het
Fyco1	A	T	9: 123,660,350 (GRCm39)		probably null	Het
Gen1	T	C	12: 11,311,068 (GRCm39)	N55D	probably damaging	Het
Gm20604	A	T	12: 102,709,636 (GRCm39)	C75S	unknown	Het
Gm3045	T	A	13: 56,578,160 (GRCm39)	V199D	unknown	Het
Gm49368	A	G	7: 127,712,178 (GRCm39)	T805A	possibly damaging	Het
Hgf	T	C	5: 16,809,921 (GRCm39)		probably null	Het
Hnrnpul2	T	A	19: 8,798,080 (GRCm39)	H145Q	probably benign	Het
Ift140	A	G	17: 25,313,753 (GRCm39)	M1395V	probably benign	Het
Il17rc	T	G	6: 113,457,780 (GRCm39)		probably null	Het
Kansl1l	T	A	1: 66,840,347 (GRCm39)	T318S	probably benign	Het
Kcnc1	A	T	7: 46,077,034 (GRCm39)	N279Y	probably damaging	Het
Khdrbs2	T	A	1: 32,511,828 (GRCm39)	H264Q	probably benign	Het
Klf12	A	G	14: 100,260,144 (GRCm39)	V195A	possibly damaging	Het
Lhfpl2	A	G	13: 94,328,539 (GRCm39)	E200G	probably damaging	Het
Lmna	T	C	3: 88,393,548 (GRCm39)	D300G	probably damaging	Het
Mdm1	A	G	10: 117,982,523 (GRCm39)	I53V	probably damaging	Het
Mga	T	A	2: 119,733,518 (GRCm39)	I122N	probably damaging	Het
Mos	A	G	4: 3,871,763 (GRCm39)	S18P	probably benign	Het
Mterf3	C	T	13: 67,062,852 (GRCm39)	V295I	possibly damaging	Het
Muc16	G	A	9: 18,571,511 (GRCm39)	T336I	unknown	Het
Myo15a	T	C	11: 60,374,555 (GRCm39)	S136P		Het
Nav3	T	A	10: 109,738,955 (GRCm39)	I128F	probably damaging	Het
Nphs1	A	G	7: 30,170,594 (GRCm39)	D928G	probably damaging	Het
Or52z15	A	G	7: 103,332,464 (GRCm39)	I180V	probably damaging	Het
Or5b114-ps1	A	T	19: 13,352,553 (GRCm39)	T76S	possibly damaging	Het
Or5m13b	T	A	2: 85,753,819 (GRCm39)	V69E	probably damaging	Het
Or5p70	A	G	7: 107,995,259 (GRCm39)	K311E	probably benign	Het
Or8u10	T	C	2: 85,915,911 (GRCm39)	D70G	possibly damaging	Het
Parvb	T	C	15: 84,155,523 (GRCm39)		probably null	Het
Patj	A	C	4: 98,576,484 (GRCm39)	E574A	probably benign	Het
Ppp2r1a	A	G	17: 21,181,877 (GRCm39)	N465S	probably benign	Het
Pramel34	T	A	5: 93,786,697 (GRCm39)	E24V	probably damaging	Het
Senp6	A	G	9: 80,046,379 (GRCm39)	K950E	possibly damaging	Het
Septin12	T	C	16: 4,805,481 (GRCm39)	H304R	probably damaging	Het
Septin3	T	C	15: 82,167,914 (GRCm39)	V110A	probably damaging	Het
Slc25a35	G	T	11: 68,862,076 (GRCm39)	V170L	probably benign	Het
Slco3a1	A	T	7: 73,934,153 (GRCm39)	L673Q	possibly damaging	Het
Smim35	A	G	9: 45,154,271 (GRCm39)	N44S	possibly damaging	Het
Tcp1	A	G	17: 13,136,687 (GRCm39)	M23V	probably benign	Het
Thg1l	T	C	11: 45,845,288 (GRCm39)		probably benign	Het
Tiam2	G	A	17: 3,471,923 (GRCm39)	E522K	probably benign	Het
Tie1	G	A	4: 118,341,867 (GRCm39)	T194I	possibly damaging	Het
Vmn2r49	T	A	7: 9,718,674 (GRCm39)	E463D	probably benign	Het
Wdr1	C	A	5: 38,697,355 (GRCm39)		probably null	Het
Zbtb38	A	T	9: 96,567,649 (GRCm39)	M1145K	probably 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
R7584:Lrif1	UTSW	3	106,639,217 (GRCm39)	missense	probably benign	0.32
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
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'- ACTTGAGAACAGACCTGTGTTAC -3'
(R):5'- TCAGATGGTCAGGAATTCGAG -3'

Sequencing Primer
(F):5'- GAGAACAGACCTGTGTTACTATTCTG -3'
(R):5'- TGGTCAGGAATTCGAGTAAGACATAC -3'

Posted On

2022-04-18