Mutagenetix > Incidental Mutation

Incidental Mutation 'R7002:Lrrfip1'

544572

Institutional Source

Beutler Lab

Gene Symbol

Lrrfip1

Ensembl Gene

ENSMUSG00000026305

Gene Name

leucine rich repeat (in FLII) interacting protein 1

Synonyms

FLAP (FLI LRR associated protein), Fliiap1

MMRRC Submission

045107-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7002 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90926459-91056666 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 91043180 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 528 (H528Q)

Ref Sequence

ENSEMBL: ENSMUSP00000095254 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068116] [ENSMUST00000068167] [ENSMUST00000097649] [ENSMUST00000097650] [ENSMUST00000185531] [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
AA Change: H528Q

PolyPhen 2 Score 0.311 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000095254
Gene: ENSMUSG00000026305
AA Change: H528Q

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 benign
Transcript: ENSMUST00000185531

SMART Domains

Protein: ENSMUSP00000139497
Gene: ENSMUSG00000026305

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: ENSMUST00000189617

SMART Domains

Protein: ENSMUSP00000139811
Gene: ENSMUSG00000026305

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8b	A	G	11: 109,832,390 (GRCm39)	S1308P	probably damaging	Het
Abl2	A	T	1: 156,386,703 (GRCm39)	R29W	probably damaging	Het
Adam6b	C	A	12: 113,453,327 (GRCm39)	S48*	probably null	Het
Adamts18	T	A	8: 114,501,922 (GRCm39)	D313V	possibly damaging	Het
Aoc1	A	G	6: 48,882,810 (GRCm39)	S229G	probably benign	Het
Apol10a	G	A	15: 77,369,046 (GRCm39)	R15H	possibly damaging	Het
Bend4	T	A	5: 67,555,602 (GRCm39)	T535S	probably benign	Het
Blm	T	C	7: 80,119,501 (GRCm39)	K1024R	probably benign	Het
Brca2	T	C	5: 150,463,383 (GRCm39)	V1049A	probably benign	Het
Cerk	T	C	15: 86,040,795 (GRCm39)	Y188C	possibly damaging	Het
Cic	C	T	7: 24,971,621 (GRCm39)	R451C	probably damaging	Het
Col18a1	A	T	10: 77,002,177 (GRCm39)	V10E	unknown	Het
Cplx1	T	A	5: 108,668,182 (GRCm39)	K58M	probably damaging	Het
Crybg1	T	A	10: 43,874,831 (GRCm39)	D759V	probably damaging	Het
Cwc25	A	T	11: 97,638,897 (GRCm39)	N342K	probably damaging	Het
Dab2	A	T	15: 6,464,846 (GRCm39)	T566S	probably benign	Het
Depdc5	G	A	5: 33,034,502 (GRCm39)		probably null	Het
Dip2b	T	A	15: 100,058,346 (GRCm39)	N408K	probably benign	Het
Dnah12	T	C	14: 26,598,955 (GRCm39)	I3631T	probably damaging	Het
Dnase1	A	G	16: 3,857,410 (GRCm39)	I236V	possibly damaging	Het
Duox1	C	T	2: 122,150,358 (GRCm39)	Q196*	probably null	Het
Eef2k	G	A	7: 120,491,155 (GRCm39)	R547Q	probably benign	Het
Erich5	C	T	15: 34,471,508 (GRCm39)	L246F	probably damaging	Het
Frmpd1	C	T	4: 45,284,200 (GRCm39)	A1007V	probably benign	Het
Fsip2	T	A	2: 82,819,687 (GRCm39)	I5140N	possibly damaging	Het
Gan	T	C	8: 117,922,586 (GRCm39)	C440R	possibly damaging	Het
Garnl3	T	A	2: 32,944,205 (GRCm39)	H73L	possibly damaging	Het
Gid8	T	G	2: 180,355,096 (GRCm39)	M34R	possibly damaging	Het
Gjd4	C	A	18: 9,280,960 (GRCm39)	L39F	possibly damaging	Het
Gpatch2l	G	A	12: 86,290,958 (GRCm39)	R47H	probably damaging	Het
Grhpr	T	C	4: 44,990,427 (GRCm39)	S306P	probably damaging	Het
H2bc21	A	G	3: 96,128,689 (GRCm39)	I70V	probably benign	Het
Hdac4	T	G	1: 91,896,083 (GRCm39)	K729T	possibly damaging	Het
Igfbp2	C	T	1: 72,888,804 (GRCm39)	H85Y	probably damaging	Het
Igkv4-61	T	G	6: 69,394,373 (GRCm39)	I13L	probably benign	Het
Il18r1	G	A	1: 40,514,013 (GRCm39)	S73N	probably benign	Het
Immt	T	C	6: 71,838,024 (GRCm39)	V244A	probably damaging	Het
Irs1	T	C	1: 82,265,981 (GRCm39)	Y745C	probably benign	Het
Itpr3	T	C	17: 27,329,554 (GRCm39)	V1526A	probably benign	Het
Jrkl	A	T	9: 13,245,526 (GRCm39)	I45K	probably damaging	Het
Lamp3	G	T	16: 19,474,172 (GRCm39)	Q401K	possibly damaging	Het
Ltn1	A	T	16: 87,220,361 (GRCm39)	D245E	probably benign	Het
Mmut	T	A	17: 41,252,274 (GRCm39)	I272N	possibly damaging	Het
Mnat1	T	C	12: 73,277,479 (GRCm39)		probably benign	Het
Mprip	A	C	11: 59,652,016 (GRCm39)	M1907L	probably benign	Het
Nfu1	C	A	6: 86,993,254 (GRCm39)	H131Q	probably benign	Het
Nup188	T	A	2: 30,213,580 (GRCm39)	S670R	probably damaging	Het
Or5b120	A	G	19: 13,480,039 (GRCm39)	N111D	probably benign	Het
Or8k40	T	C	2: 86,585,025 (GRCm39)	D19G	probably benign	Het
Pals2	C	T	6: 50,139,642 (GRCm39)	P116L	probably benign	Het
Parp4	T	A	14: 56,839,861 (GRCm39)	V523E	probably damaging	Het
Pbrm1	T	A	14: 30,786,777 (GRCm39)	D631E	probably benign	Het
Prss40	A	T	1: 34,591,481 (GRCm39)		probably null	Het
Rnf13	A	G	3: 57,741,033 (GRCm39)	N274S	probably damaging	Het
Rtl1	T	A	12: 109,560,381 (GRCm39)	Y486F	probably damaging	Het
Sec14l3	A	T	11: 4,025,263 (GRCm39)	H291L	possibly damaging	Het
Senp5	A	G	16: 31,802,593 (GRCm39)	S532P	probably damaging	Het
Sepsecs	T	C	5: 52,804,550 (GRCm39)		probably null	Het
Serpina1e	T	C	12: 103,914,338 (GRCm39)	I329V	probably benign	Het
Slc10a4-ps	T	A	5: 72,743,763 (GRCm39)		probably null	Het
Slc35f3	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	CTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTC	8: 127,115,773 (GRCm39)		unknown	Het
Smc5	A	G	19: 23,209,247 (GRCm39)	V639A	probably benign	Het
Speg	T	A	1: 75,399,912 (GRCm39)	V2453E	probably damaging	Het
Syt2	T	A	1: 134,671,842 (GRCm39)	F207I	probably damaging	Het
Tchp	C	T	5: 114,846,857 (GRCm39)	S48L	probably benign	Het
Trim12a	A	G	7: 103,953,383 (GRCm39)	S243P	possibly damaging	Het
Ttn	T	C	2: 76,628,561 (GRCm39)	E14533G	probably damaging	Het
Vmn1r50	T	A	6: 90,084,819 (GRCm39)	M188K	probably benign	Het
Vps11	G	A	9: 44,266,376 (GRCm39)	T437I	probably damaging	Het
Xrn1	C	T	9: 95,929,843 (GRCm39)	T1498I	probably benign	Het
Zfp236	A	G	18: 82,709,701 (GRCm39)		probably null	Het
Zfp316	T	C	5: 143,249,110 (GRCm39)	D175G	unknown	Het
Zmynd11	A	G	13: 9,744,366 (GRCm39)	L256P	probably damaging	Het

Other mutations in Lrrfip1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Lrrfip1	APN	1	90,996,343 (GRCm39)	missense	probably damaging	1.00
IGL00835:Lrrfip1	APN	1	91,043,140 (GRCm39)	missense	possibly damaging	0.89
IGL01603:Lrrfip1	APN	1	91,043,635 (GRCm39)	missense	probably benign	0.03
IGL02261:Lrrfip1	APN	1	91,039,890 (GRCm39)	missense	probably benign	0.22
IGL02401:Lrrfip1	APN	1	91,042,650 (GRCm39)	missense	probably benign	0.21
IGL02690:Lrrfip1	APN	1	90,981,383 (GRCm39)	missense	probably damaging	0.97
R0048:Lrrfip1	UTSW	1	91,021,369 (GRCm39)	splice site	probably benign
R0048:Lrrfip1	UTSW	1	91,021,369 (GRCm39)	splice site	probably benign
R0891:Lrrfip1	UTSW	1	90,996,337 (GRCm39)	missense	probably damaging	1.00
R1210:Lrrfip1	UTSW	1	91,042,915 (GRCm39)	missense	probably benign	0.16
R1352:Lrrfip1	UTSW	1	91,043,089 (GRCm39)	missense	probably benign
R1488:Lrrfip1	UTSW	1	91,042,354 (GRCm39)	missense	probably damaging	1.00
R1600:Lrrfip1	UTSW	1	91,042,389 (GRCm39)	missense	probably damaging	0.98
R1718:Lrrfip1	UTSW	1	91,043,277 (GRCm39)	missense	probably damaging	0.99
R2056:Lrrfip1	UTSW	1	91,043,539 (GRCm39)	missense	probably benign	0.25
R2993:Lrrfip1	UTSW	1	91,032,956 (GRCm39)	missense	probably damaging	0.99
R3782:Lrrfip1	UTSW	1	91,039,911 (GRCm39)	missense	possibly damaging	0.82
R4191:Lrrfip1	UTSW	1	91,038,121 (GRCm39)	missense	probably benign	0.39
R4675:Lrrfip1	UTSW	1	91,031,042 (GRCm39)	critical splice donor site	probably null
R4732:Lrrfip1	UTSW	1	91,043,369 (GRCm39)	missense	probably benign	0.29
R4733:Lrrfip1	UTSW	1	91,043,369 (GRCm39)	missense	probably benign	0.29
R5196:Lrrfip1	UTSW	1	91,042,330 (GRCm39)	missense	probably damaging	1.00
R5250:Lrrfip1	UTSW	1	91,043,618 (GRCm39)	missense	possibly damaging	0.90
R5433:Lrrfip1	UTSW	1	91,014,848 (GRCm39)	critical splice donor site	probably null
R6005:Lrrfip1	UTSW	1	91,042,333 (GRCm39)	missense	probably damaging	1.00
R6218:Lrrfip1	UTSW	1	91,009,881 (GRCm39)	missense	probably damaging	0.96
R6600:Lrrfip1	UTSW	1	91,043,569 (GRCm39)	missense	probably damaging	0.99
R6847:Lrrfip1	UTSW	1	91,032,850 (GRCm39)	missense	probably damaging	1.00
R6911:Lrrfip1	UTSW	1	91,042,529 (GRCm39)	nonsense	probably null
R6940:Lrrfip1	UTSW	1	91,050,135 (GRCm39)	splice site	probably null
R6976:Lrrfip1	UTSW	1	91,042,737 (GRCm39)	missense	probably benign	0.00
R7205:Lrrfip1	UTSW	1	91,019,338 (GRCm39)	missense	probably benign	0.00
R7363:Lrrfip1	UTSW	1	91,050,842 (GRCm39)	missense	probably benign	0.05
R7552:Lrrfip1	UTSW	1	91,033,005 (GRCm39)	missense	probably damaging	1.00
R7910:Lrrfip1	UTSW	1	91,047,874 (GRCm39)	missense	possibly damaging	0.88
R8006:Lrrfip1	UTSW	1	91,004,673 (GRCm39)	missense	probably damaging	1.00
R8068:Lrrfip1	UTSW	1	91,055,824 (GRCm39)	missense	probably damaging	1.00
R8086:Lrrfip1	UTSW	1	91,043,630 (GRCm39)	missense	probably benign	0.00
R8221:Lrrfip1	UTSW	1	91,042,878 (GRCm39)	missense	probably benign	0.11
R8352:Lrrfip1	UTSW	1	90,926,541 (GRCm39)	missense	probably benign
R8362:Lrrfip1	UTSW	1	90,981,423 (GRCm39)	missense	probably damaging	1.00
R8903:Lrrfip1	UTSW	1	91,012,781 (GRCm39)	intron	probably benign
R9138:Lrrfip1	UTSW	1	91,038,080 (GRCm39)	missense	probably damaging	0.99
X0057:Lrrfip1	UTSW	1	91,043,125 (GRCm39)	missense	possibly damaging	0.67
Z1088:Lrrfip1	UTSW	1	91,043,252 (GRCm39)	intron	probably benign
Z1176:Lrrfip1	UTSW	1	91,028,921 (GRCm39)	missense	possibly damaging	0.66
Z1177:Lrrfip1	UTSW	1	91,050,216 (GRCm39)	missense	possibly damaging	0.73

Predicted Primers

PCR Primer
(F):5'- CATCGTTCAGATCCCACAGG -3'
(R):5'- TTTCTTGTCAGTGACCTGGAGC -3'

Sequencing Primer
(F):5'- GCCGGTGGAGAGAACACTATTACC -3'
(R):5'- TGACCTGGAGCCGCTCTTC -3'

Posted On

2019-05-13