Mutagenetix > Incidental Mutations

Incidental Mutation 'R6218:Lrrfip1'

503816

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)

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90998737-91128944 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91082159 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 122 (Y122H)

Ref Sequence

ENSEMBL: ENSMUSP00000139497 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068116] [ENSMUST00000068167] [ENSMUST00000097649] [ENSMUST00000097650] [ENSMUST00000185531] [ENSMUST00000186762] [ENSMUST00000189505] [ENSMUST00000189617]

AlphaFold

Q3UZ39

Predicted Effect

probably benign
Transcript: ENSMUST00000068116

SMART Domains

Protein: ENSMUSP00000065850
Gene: ENSMUSG00000026305

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068167

SMART Domains

Protein: ENSMUSP00000063878
Gene: ENSMUSG00000026305

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 benign
Transcript: ENSMUST00000097649

SMART Domains

Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305

Domain	Start	End	E-Value	Type
Pfam:DUF2051	23	327	1.3e-87	PFAM
internal_repeat_2	439	528	6e-5	PROSPERO
low complexity region	550	566	N/A	INTRINSIC
internal_repeat_2	575	683	6e-5	PROSPERO
internal_repeat_1	647	715	1.05e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000097650

SMART Domains

Protein: ENSMUSP00000095255
Gene: ENSMUSG00000026305

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: ENSMUST00000185531
AA Change: Y122H

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305
AA Change: Y122H

Domain	Start	End	E-Value	Type
Pfam:DUF2051	33	118	1.2e-12	PFAM
low complexity region	138	158	N/A	INTRINSIC
Pfam:DUF2051	231	413	3.7e-60	PFAM
Pfam:DUF2051	424	575	1.3e-32	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000186762

SMART Domains

Protein: ENSMUSP00000139902
Gene: ENSMUSG00000026305

Domain	Start	End	E-Value	Type
Pfam:DUF2051	23	98	1.5e-16	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000189505

SMART Domains

Protein: ENSMUSP00000141024
Gene: ENSMUSG00000026305

Domain	Start	End	E-Value	Type
Pfam:DUF2051	33	306	7.2e-78	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189617
AA Change: Y112H

PolyPhen 2 Score 0.540 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305
AA Change: Y112H

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: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm14548	A	T	7: 3,894,032	S602T	possibly damaging	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	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
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
R8068:Lrrfip1	UTSW	1	91128102	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'- CTGCCATTCTGATAATATGTCTGTC -3'
(R):5'- TCCGGTTTTAGGGACCCATC -3'

Sequencing Primer
(F):5'- ACGTGTGACTTCTCTCTG -3'
(R):5'- CCAGGAGGCTCACTCTAGAGAG -3'

Posted On

2018-02-27