Mutagenetix > Incidental Mutations

Incidental Mutation 'R1735:Lrif1'

199620

Institutional Source

Beutler Lab

Gene Symbol

Lrif1

Ensembl Gene

ENSMUSG00000056260

Gene Name

ligand dependent nuclear receptor interacting factor 1

Synonyms

2010012G17Rik, 4933421E11Rik

MMRRC Submission

039767-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.101) question?

Stock #

R1735 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

106684987-106736577 bp(+) (GRCm38)

Type of Mutation

makesense

DNA Base Change (assembly)

T to C at 106735846 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Stop codon to Glutamine at position 238 (*238Q)

Ref Sequence

ENSEMBL: ENSMUSP00000102347 (fasta)

Gene Model

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

AlphaFold

Q8CDD9

Predicted Effect

probably null
Transcript: ENSMUST00000098750
AA Change: *756Q

SMART Domains

Protein: ENSMUSP00000096346
Gene: ENSMUSG00000056260
AA Change: *756Q

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

Predicted Effect

probably null
Transcript: ENSMUST00000098751
AA Change: *258Q

SMART Domains

Protein: ENSMUSP00000096347
Gene: ENSMUSG00000056260
AA Change: *258Q

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 null
Transcript: ENSMUST00000106736
AA Change: *238Q

SMART Domains

Protein: ENSMUSP00000102347
Gene: ENSMUSG00000056260
AA Change: *238Q

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000106737

SMART Domains

Protein: ENSMUSP00000102348
Gene: ENSMUSG00000056260

Domain	Start	End	E-Value	Type
Pfam:LRIF1	22	347	6.2e-145	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122928

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

noncoding transcript
Transcript: ENSMUST00000150888

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156544

Coding Region Coverage

1x: 97.6%
3x: 97.0%
10x: 95.3%
20x: 92.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230110C19Rik	A	C	9: 8,027,265	S91A	probably benign	Het
Acot5	A	T	12: 84,075,487	I282F	probably benign	Het
Adam19	C	A	11: 46,138,917	Q730K	probably benign	Het
Adgrv1	A	G	13: 81,487,947	V3481A	possibly damaging	Het
Akr1c20	T	C	13: 4,487,208	D316G	probably benign	Het
Ap3b1	G	A	13: 94,493,717	V827I	unknown	Het
Aph1a	T	A	3: 95,895,509	D140E	probably damaging	Het
Arhgef19	G	T	4: 141,249,618	V502L	possibly damaging	Het
Arl9	T	C	5: 77,006,626	F67S	probably damaging	Het
B430305J03Rik	G	A	3: 61,363,940		probably benign	Het
B4galnt2	A	G	11: 95,890,983	F119L	probably damaging	Het
Bcap29	T	A	12: 31,630,840	N49I	probably damaging	Het
C77080	G	T	4: 129,223,577	S476R	probably damaging	Het
Capn11	T	A	17: 45,632,401	K616*	probably null	Het
Cdh12	T	A	15: 21,520,366	Y306N	probably damaging	Het
Cep350	T	A	1: 155,953,214	N315Y	probably damaging	Het
Cited2	C	A	10: 17,724,046	P34Q	probably damaging	Het
Cmya5	A	T	13: 93,089,789	D2930E	probably benign	Het
Cog3	T	A	14: 75,729,321	K470*	probably null	Het
Commd10	A	G	18: 46,990,485	T136A	probably benign	Het
Csf2ra	C	A	19: 61,226,344	D181Y	probably damaging	Het
Csmd1	T	A	8: 15,932,610	I2686F	probably damaging	Het
Dhx29	T	C	13: 112,945,086	S415P	probably benign	Het
Dsel	A	T	1: 111,860,915	F630Y	probably damaging	Het
Ell	T	A	8: 70,578,940	I96N	possibly damaging	Het
Ephx2	T	A	14: 66,088,303	I358L	probably benign	Het
Fam162b	A	G	10: 51,587,211	I120T	probably damaging	Het
Fam187a	T	C	11: 102,885,780	Y137H	probably damaging	Het
Fastk	T	C	5: 24,441,803	E403G	probably damaging	Het
Fcrlb	C	A	1: 170,907,332	V409F	probably benign	Het
Flot2	G	T	11: 78,058,005	A269S	probably benign	Het
Gpd2	T	A	2: 57,355,551	N419K	probably damaging	Het
Hecw1	A	T	13: 14,377,765	M61K	probably null	Het
Htr2a	T	C	14: 74,706,128	F383L	probably damaging	Het
Kctd6	C	T	14: 8,222,253	R32C	probably damaging	Het
Khdc1a	A	G	1: 21,350,965	T125A	probably benign	Het
Klhl40	T	C	9: 121,779,938	S390P	probably benign	Het
Lonp1	G	A	17: 56,614,956	T808I	probably damaging	Het
Loxhd1	A	C	18: 77,404,889	D1342A	probably damaging	Het
Lrat	T	C	3: 82,897,110	I187V	probably benign	Het
Lrp2bp	T	C	8: 46,011,988	F48S	probably benign	Het
Mafg	A	G	11: 120,629,678	M32T	possibly damaging	Het
Map4	C	T	9: 110,034,955	T416I	probably benign	Het
N4bp2	T	C	5: 65,808,316	F1236S	probably damaging	Het
Nfatc3	A	G	8: 106,083,834	D414G	probably damaging	Het
Nrip2	T	G	6: 128,405,074	V50G	probably damaging	Het
Olfr1449	T	A	19: 12,934,843	I35N	probably damaging	Het
Olfr16	A	G	1: 172,956,807	N4S	probably benign	Het
Olfr432	A	T	1: 174,050,799	K142I	probably benign	Het
Olfr608	T	A	7: 103,470,146	F36I	possibly damaging	Het
Pcdhb18	A	T	18: 37,490,769	H384L	probably benign	Het
Pik3r1	A	T	13: 101,686,374	Y607N	probably damaging	Het
Plagl2	G	A	2: 153,232,477	T168I	probably damaging	Het
Polr2a	A	G	11: 69,742,396	S912P	probably damaging	Het
Ppp1r16b	A	G	2: 158,761,495	K447E	possibly damaging	Het
Prkd1	T	C	12: 50,342,039	E907G	possibly damaging	Het
Rabep2	A	G	7: 126,444,540	R470G	probably damaging	Het
Rasal2	T	C	1: 157,174,160	Y518C	probably damaging	Het
Rbmxl1	A	G	8: 78,506,082	Y211H	probably damaging	Het
Rdh7	T	C	10: 127,884,585	Y306C	probably benign	Het
Rtn3	T	C	19: 7,457,911	I220V	probably damaging	Het
Scn8a	A	G	15: 101,015,861	N1045D	possibly damaging	Het
Scube1	T	C	15: 83,607,437	H952R	probably damaging	Het
Sf3b1	A	G	1: 55,000,652	I690T	probably damaging	Het
Sharpin	T	C	15: 76,347,936	K240R	probably benign	Het
Skint5	A	G	4: 113,563,459	I1108T	unknown	Het
Snip1	A	G	4: 125,071,201	D133G	probably benign	Het
St3gal3	T	C	4: 118,014,774	Y77C	probably damaging	Het
Sytl3	T	C	17: 6,715,481	V112A	probably benign	Het
Tnxb	C	T	17: 34,717,970	P3718S	probably damaging	Het
Ttc24	A	T	3: 88,073,094		probably null	Het
Ubr3	A	T	2: 70,009,129	E1529V	probably damaging	Het
Utrn	T	A	10: 12,710,138	H965L	probably benign	Het
Xrn2	T	A	2: 147,061,423	L781Q	probably damaging	Het
Zbtb11	T	C	16: 55,990,682	I401T	probably benign	Het
Zc3h14	C	T	12: 98,758,580	P167L	probably damaging	Het
Zfp609	G	T	9: 65,703,092	S863*	probably null	Het

Other mutations in Lrif1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00870:Lrif1	APN	3	106734641	critical splice donor site	probably null
IGL01121:Lrif1	APN	3	106735664	nonsense	probably null
IGL01304:Lrif1	APN	3	106731733	missense	probably damaging	1.00
IGL02209:Lrif1	APN	3	106731729	missense	probably damaging	1.00
IGL02801:Lrif1	APN	3	106734614	missense	possibly damaging	0.89
IGL02796:Lrif1	UTSW	3	106735436	missense	probably benign	0.25
R0440:Lrif1	UTSW	3	106734398	missense	possibly damaging	0.87
R0456:Lrif1	UTSW	3	106731778	missense	probably benign	0.06
R0561:Lrif1	UTSW	3	106732165	missense	probably damaging	1.00
R1160:Lrif1	UTSW	3	106732717	missense	possibly damaging	0.95
R1720:Lrif1	UTSW	3	106733136	missense	probably damaging	1.00
R1843:Lrif1	UTSW	3	106732811	missense	probably damaging	0.99
R2016:Lrif1	UTSW	3	106732206	missense	possibly damaging	0.94
R2200:Lrif1	UTSW	3	106734558	missense	probably damaging	0.98
R3619:Lrif1	UTSW	3	106732546	missense	probably damaging	1.00
R4750:Lrif1	UTSW	3	106735564	missense	probably benign	0.33
R4878:Lrif1	UTSW	3	106735640	missense	probably damaging	1.00
R4945:Lrif1	UTSW	3	106735753	missense	probably damaging	1.00
R5286:Lrif1	UTSW	3	106732543	missense	probably damaging	0.97
R5682:Lrif1	UTSW	3	106732568	missense	possibly damaging	0.70
R6149:Lrif1	UTSW	3	106732327	missense	possibly damaging	0.83
R6665:Lrif1	UTSW	3	106735343	splice site	probably null
R7011:Lrif1	UTSW	3	106732285	missense	probably damaging	1.00
R7584:Lrif1	UTSW	3	106731901	missense	probably benign	0.32
R7869:Lrif1	UTSW	3	106733143	critical splice donor site	probably null
R8247:Lrif1	UTSW	3	106734376	missense	probably damaging	1.00
R8686:Lrif1	UTSW	3	106732781	missense	probably damaging	1.00
R9001:Lrif1	UTSW	3	106734544	missense	probably benign	0.00
R9347:Lrif1	UTSW	3	106734358	missense	possibly damaging	0.71
Z1088:Lrif1	UTSW	3	106732570	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGCTGATGACACGGTCATGAGC -3'
(R):5'- TCCCCATCGTACACAGGTGTCTAAG -3'

Sequencing Primer
(F):5'- CACGGTCATGAGCATCATGAATG -3'
(R):5'- cgtacacaggtgtctaagtataaatg -3'

Posted On

2014-05-23