Mutagenetix > Incidental Mutation

Incidental Mutation 'R8068:Lrrfip1'

620084

Institutional Source

Beutler Lab

Gene Symbol

Lrrfip1

Ensembl Gene

ENSMUSG00000026305

Gene Name

leucine rich repeat (in FLII) interacting protein 1

Synonyms

Fliiap1, FLAP (FLI LRR associated protein)

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8068 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90998737-91128944 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 91128102 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 598 (D598V)

Ref Sequence

ENSEMBL: ENSMUSP00000095255 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068116] [ENSMUST00000068167] [ENSMUST00000097650] [ENSMUST00000189617]

AlphaFold

Q3UZ39

Predicted Effect

probably damaging
Transcript: ENSMUST00000068116
AA Change: D398V

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000065850
Gene: ENSMUSG00000026305
AA Change: D398V

Domain	Start	End	E-Value	Type
Pfam:DUF2051	33	354	4.1e-133	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000068167
AA Change: D598V

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305
AA Change: D598V

Domain	Start	End	E-Value	Type
Pfam:DUF2051	23	123	2.2e-18	PFAM
Pfam:DUF2051	193	387	2.5e-49	PFAM
Pfam:DUF2051	366	553	8.1e-34	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097650
AA Change: D598V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305
AA Change: D598V

Domain	Start	End	E-Value	Type
Pfam:DUF2051	23	120	2.3e-16	PFAM
Pfam:DUF2051	195	368	1.2e-63	PFAM
Pfam:DUF2051	379	554	1.8e-47	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000189617
AA Change: D633V

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
AA Change: D633V

Domain	Start	End	E-Value	Type
Pfam:DUF2051	23	108	1.4e-12	PFAM
low complexity region	128	148	N/A	INTRINSIC
Pfam:DUF2051	229	403	1.2e-60	PFAM
Pfam:DUF2051	414	589	1.8e-44	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam39	T	A	8: 40,825,938	D455E	not run	Het
Aldoc	T	C	11: 78,324,727	F79S	possibly damaging	Het
Atmin	A	G	8: 116,956,650	S350G	probably benign	Het
Bms1	A	G	6: 118,413,750	F206S	probably damaging	Het
Carmil1	T	A	13: 24,075,728	I698L	probably benign	Het
Cd47	T	A	16: 49,895,416	S182T		Het
Ces2e	G	T	8: 104,932,997		probably null	Het
Cit	C	A	5: 115,952,466	H906Q	probably damaging	Het
Cit	T	C	5: 115,982,235	S1370P	probably benign	Het
Dchs2	T	C	3: 83,300,438	F1739L	probably benign	Het
Dlx4	T	C	11: 95,145,330	Y51C	possibly damaging	Het
Drosha	T	A	15: 12,883,190	Y796*	probably null	Het
Elf1	T	A	14: 79,536,390	F14I	probably benign	Het
Fam135b	T	C	15: 71,532,978	Q73R	probably damaging	Het
Gatad1	T	C	5: 3,643,540	R210G	probably benign	Het
Gls2	C	G	10: 128,195,114	R81G	unknown	Het
Hnrnpll	T	C	17: 80,050,852	M157V	possibly damaging	Het
Itgb3	T	A	11: 104,665,511	M726K	probably benign	Het
Kcna10	T	G	3: 107,194,410	M119R	possibly damaging	Het
Kcnh1	A	G	1: 192,241,942	T155A	probably benign	Het
Kctd9	T	A	14: 67,724,662	D51E	unknown	Het
Lgr6	T	C	1: 135,063,664	I129V	probably benign	Het
Ltbp4	G	T	7: 27,324,168	Q850K	probably damaging	Het
Mdm1	A	G	10: 118,146,804	R115G	possibly damaging	Het
Mns1	A	C	9: 72,448,527		probably null	Het
Mthfs	G	A	9: 89,211,235	R14Q	probably damaging	Het
Muc2	T	A	7: 141,744,685	S25T		Het
Ncapd3	T	C	9: 27,063,361	S710P	possibly damaging	Het
Nrip1	T	A	16: 76,292,953	H572L	possibly damaging	Het
Nrp2	C	T	1: 62,745,408	R239C	probably damaging	Het
Olfr1020	A	G	2: 85,849,806	E118G	probably damaging	Het
Olfr1152	A	G	2: 87,868,651	Y220C	probably benign	Het
Olfr656	T	A	7: 104,618,253	C191*	probably null	Het
Opa3	A	G	7: 19,244,985	E125G	probably damaging	Het
P3h1	A	G	4: 119,236,862	Y238C	probably damaging	Het
Pappa2	T	C	1: 158,935,985	D652G	possibly damaging	Het
Pcdha11	T	A	18: 37,005,565	N82K	probably damaging	Het
Pde4b	T	C	4: 102,596,015	I293T	probably damaging	Het
Prrc2c	TTGCTGCTGCTGCTGCTGCTGCTGCTGC	TTGCTGCTGCTGCTGCTGCTGCTGC	1: 162,709,061		probably benign	Het
Qk	T	C	17: 10,318,803	D24G	possibly damaging	Het
Rbpjl	A	G	2: 164,408,518	K197E	possibly damaging	Het
Rnf111	A	T	9: 70,457,941	S415T	probably benign	Het
Scyl1	A	G	19: 5,760,825	V488A	probably damaging	Het
Slc1a6	G	C	10: 78,812,872	V476L	possibly damaging	Het
Slc22a17	A	T	14: 54,908,908	F84I	probably benign	Het
Slc22a4	A	C	11: 53,997,443	I253S	possibly damaging	Het
Speer2	T	C	16: 69,860,524	H77R	possibly damaging	Het
Speg	T	C	1: 75,422,250	S2114P	probably damaging	Het
Synpo2	T	A	3: 123,117,392	R201S	possibly damaging	Het
Ttpa	C	A	4: 20,028,419	H225Q	probably damaging	Het
Vmn1r45	A	T	6: 89,933,279	H236Q	possibly damaging	Het
Vmn2r7	A	T	3: 64,716,086	V271D	probably benign	Het
Wdr66	A	G	5: 123,256,166	S373G	not run	Het
Zfp53	A	T	17: 21,509,012	T436S	probably benign	Het

Other mutations in Lrrfip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Lrrfip1	APN	1	91068621	missense	probably damaging	1.00
IGL00835:Lrrfip1	APN	1	91115418	missense	possibly damaging	0.89
IGL01603:Lrrfip1	APN	1	91115913	missense	probably benign	0.03
IGL02261:Lrrfip1	APN	1	91112168	missense	probably benign	0.22
IGL02401:Lrrfip1	APN	1	91114928	missense	probably benign	0.21
IGL02690:Lrrfip1	APN	1	91053661	missense	probably damaging	0.97
R0048:Lrrfip1	UTSW	1	91093647	splice site	probably benign
R0048:Lrrfip1	UTSW	1	91093647	splice site	probably benign
R0891:Lrrfip1	UTSW	1	91068615	missense	probably damaging	1.00
R1210:Lrrfip1	UTSW	1	91115193	missense	probably benign	0.16
R1352:Lrrfip1	UTSW	1	91115367	missense	probably benign
R1488:Lrrfip1	UTSW	1	91114632	missense	probably damaging	1.00
R1600:Lrrfip1	UTSW	1	91114667	missense	probably damaging	0.98
R1718:Lrrfip1	UTSW	1	91115555	missense	probably damaging	0.99
R2056:Lrrfip1	UTSW	1	91115817	missense	probably benign	0.25
R2993:Lrrfip1	UTSW	1	91105234	missense	probably damaging	0.99
R3782:Lrrfip1	UTSW	1	91112189	missense	possibly damaging	0.82
R4191:Lrrfip1	UTSW	1	91110399	missense	probably benign	0.39
R4675:Lrrfip1	UTSW	1	91103320	critical splice donor site	probably null
R4732:Lrrfip1	UTSW	1	91115647	missense	probably benign	0.29
R4733:Lrrfip1	UTSW	1	91115647	missense	probably benign	0.29
R5196:Lrrfip1	UTSW	1	91114608	missense	probably damaging	1.00
R5250:Lrrfip1	UTSW	1	91115896	missense	possibly damaging	0.90
R5433:Lrrfip1	UTSW	1	91087126	critical splice donor site	probably null
R6005:Lrrfip1	UTSW	1	91114611	missense	probably damaging	1.00
R6218:Lrrfip1	UTSW	1	91082159	missense	probably damaging	0.96
R6600:Lrrfip1	UTSW	1	91115847	missense	probably damaging	0.99
R6847:Lrrfip1	UTSW	1	91105128	missense	probably damaging	1.00
R6911:Lrrfip1	UTSW	1	91114807	nonsense	probably null
R6940:Lrrfip1	UTSW	1	91122413	splice site	probably null
R6976:Lrrfip1	UTSW	1	91115015	missense	probably benign	0.00
R7002:Lrrfip1	UTSW	1	91115458	missense	probably benign	0.31
R7205:Lrrfip1	UTSW	1	91091616	missense	probably benign	0.00
R7363:Lrrfip1	UTSW	1	91123120	missense	probably benign	0.05
R7552:Lrrfip1	UTSW	1	91105283	missense	probably damaging	1.00
R7910:Lrrfip1	UTSW	1	91120152	missense	possibly damaging	0.88
R8006:Lrrfip1	UTSW	1	91076951	missense	probably damaging	1.00
R8086:Lrrfip1	UTSW	1	91115908	missense	probably benign	0.00
R8221:Lrrfip1	UTSW	1	91115156	missense	probably benign	0.11
R8352:Lrrfip1	UTSW	1	90998819	missense	probably benign
R8362:Lrrfip1	UTSW	1	91053701	missense	probably damaging	1.00
R8903:Lrrfip1	UTSW	1	91085059	intron	probably benign
R9138:Lrrfip1	UTSW	1	91110358	missense	probably damaging	0.99
X0057:Lrrfip1	UTSW	1	91115403	missense	possibly damaging	0.67
Z1088:Lrrfip1	UTSW	1	91115530	intron	probably benign
Z1176:Lrrfip1	UTSW	1	91101199	missense	possibly damaging	0.66
Z1177:Lrrfip1	UTSW	1	91122494	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- TGGTCCTATGTTCAAATCCCAGC -3'
(R):5'- CAATGCTCCCGACAGTACAG -3'

Sequencing Primer
(F):5'- AGAGGACCCACGTTCAGTTC -3'
(R):5'- TGCTCCCGACAGTACAGATAAAAG -3'

Posted On

2020-01-23