Mutagenetix > Incidental Mutation

Incidental Mutation 'R9021:Lrriq4'

686190

Institutional Source

Beutler Lab

Gene Symbol

Lrriq4

Ensembl Gene

ENSMUSG00000027703

Gene Name

leucine-rich repeats and IQ motif containing 4

Synonyms

4930558O21Rik

MMRRC Submission

068851-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.081) question?

Stock #

R9021 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30698656-30726580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 30704401 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 143 (V143G)

Ref Sequence

ENSEMBL: ENSMUSP00000103902 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029252] [ENSMUST00000108265] [ENSMUST00000108267] [ENSMUST00000172350]

AlphaFold

A6H6A4

Predicted Effect

probably benign
Transcript: ENSMUST00000029252

SMART Domains

Protein: ENSMUSP00000029252
Gene: ENSMUSG00000027702

Domain	Start	End	E-Value	Type
LRR	73	100	2.23e2	SMART
LRR	101	128	6.92e-1	SMART
LRR	129	156	1.78e0	SMART
LRR	157	184	1.67e-2	SMART
Blast:LRR	216	242	2e-9	BLAST
LRR	244	271	2.57e-3	SMART
LRR	272	299	5.59e-4	SMART
LRR	301	328	4.16e0	SMART
LRR	329	356	1.66e2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000108265
AA Change: V128G

PolyPhen 2 Score 0.418 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: V128G

Domain	Start	End	E-Value	Type
LRR	68	90	7.05e-1	SMART
LRR	91	114	1.19e1	SMART
Pfam:LRR_7	115	133	1.1e-1	PFAM
LRR	138	161	9.75e0	SMART
LRR	162	185	8.72e0	SMART
LRR	208	230	3.47e0	SMART
LRR	231	254	9.3e-1	SMART
LRR	255	276	1.22e2	SMART
LRR	277	300	4.83e0	SMART
LRR	323	345	6.22e0	SMART
LRR	346	368	6.4e0	SMART
LRR	369	392	1.51e0	SMART
LRR	418	440	2.03e1	SMART
LRR	441	464	2.82e0	SMART
IQ	524	546	8.84e-3	SMART
low complexity region	553	581	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000108267
AA Change: V143G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: V143G

Domain	Start	End	E-Value	Type
LRR	83	105	7.05e-1	SMART
LRR	106	129	1.19e1	SMART
Pfam:LRR_7	130	148	1.2e-1	PFAM
LRR	153	176	9.75e0	SMART
LRR	177	200	8.72e0	SMART
LRR	223	245	3.47e0	SMART
LRR	246	269	9.3e-1	SMART
LRR	270	291	1.22e2	SMART
LRR	292	315	4.83e0	SMART
LRR	338	360	6.22e0	SMART
LRR	361	383	6.4e0	SMART
LRR	384	407	1.51e0	SMART
LRR	433	455	2.03e1	SMART
LRR	456	479	2.82e0	SMART
IQ	539	561	8.84e-3	SMART
low complexity region	568	596	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172350
AA Change: V143G

PolyPhen 2 Score 0.294 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: V143G

Domain	Start	End	E-Value	Type
LRR	83	105	7.05e-1	SMART
LRR	106	129	1.19e1	SMART
LRR	153	176	9.75e0	SMART
LRR	177	200	8.72e0	SMART
LRR	223	245	3.47e0	SMART
LRR	246	269	9.3e-1	SMART
LRR	270	291	1.22e2	SMART
LRR	292	315	4.83e0	SMART
LRR	338	360	6.22e0	SMART
LRR	361	383	6.4e0	SMART
LRR	384	407	1.51e0	SMART
LRR	433	455	2.03e1	SMART
LRR	456	479	2.82e0	SMART
IQ	539	561	8.84e-3	SMART
low complexity region	568	596	N/A	INTRINSIC

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

98% (64/65)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,864 (GRCm39)	D770G	possibly damaging	Het
Amph	G	A	13: 19,284,071 (GRCm39)	G200D	probably benign	Het
Asap2	T	A	12: 21,253,999 (GRCm39)	L170H	possibly damaging	Het
Asap3	T	C	4: 135,966,299 (GRCm39)		probably null	Het
Atxn2l	A	T	7: 126,094,712 (GRCm39)	M595K	probably benign	Het
Bltp1	T	A	3: 37,052,493 (GRCm39)	D3064E	probably benign	Het
Ccnf	A	T	17: 24,445,679 (GRCm39)	Y522*	probably null	Het
Ceacam5	A	T	7: 17,448,877 (GRCm39)	Y81F	possibly damaging	Het
Chd2	A	T	7: 73,091,393 (GRCm39)	M1616K	probably benign	Het
Clint1	T	A	11: 45,797,042 (GRCm39)	S374R	probably benign	Het
Col6a6	A	T	9: 105,586,745 (GRCm39)	F1759I	possibly damaging	Het
Crocc	T	A	4: 140,749,674 (GRCm39)	I1487F	probably benign	Het
Dll4	TC	T	2: 119,163,054 (GRCm39)		probably null	Het
Dop1a	T	C	9: 86,402,490 (GRCm39)	I1230T	probably benign	Het
Dsp	A	T	13: 38,380,808 (GRCm39)	I2518L	possibly damaging	Het
Eps8l2	G	T	7: 140,936,117 (GRCm39)	V224L	possibly damaging	Het
Etv1	T	C	12: 38,830,971 (GRCm39)	V13A	probably benign	Het
Fam78a	T	C	2: 31,959,313 (GRCm39)	M266V	probably benign	Het
Fam81a	A	G	9: 70,017,538 (GRCm39)		probably null	Het
Fhad1	T	C	4: 141,709,620 (GRCm39)	I245V	probably damaging	Het
Flot2	T	C	11: 77,949,805 (GRCm39)	V378A	probably benign	Het
Fras1	T	A	5: 96,888,609 (GRCm39)	S2718R	probably damaging	Het
Gata3os	T	A	2: 9,887,345 (GRCm39)		probably benign	Het
Gm14305	A	G	2: 176,413,167 (GRCm39)	K353R	possibly damaging	Het
Inppl1	A	C	7: 101,480,915 (GRCm39)	V315G	probably damaging	Het
Kbtbd6	A	T	14: 79,690,822 (GRCm39)	I506F	probably damaging	Het
Klf6	G	C	13: 5,915,160 (GRCm39)	G200R	probably benign	Het
Lrp6	A	G	6: 134,518,930 (GRCm39)	I45T	probably benign	Het
Map2k2	G	T	10: 80,955,159 (GRCm39)	G217C	probably damaging	Het
Mcm10	T	C	2: 4,997,782 (GRCm39)	N813S	probably benign	Het
Mfng	T	A	15: 78,657,348 (GRCm39)	N42I	probably benign	Het
Mical1	A	G	10: 41,361,141 (GRCm39)	D808G	probably benign	Het
Mmp14	T	C	14: 54,673,632 (GRCm39)	F99L	probably benign	Het
Mroh8	A	T	2: 157,064,787 (GRCm39)	V763E	probably benign	Het
Mycbp2	G	T	14: 103,551,752 (GRCm39)	P193T	probably benign	Het
Myo1b	T	C	1: 51,821,142 (GRCm39)	D447G	possibly damaging	Het
Myoz2	T	A	3: 122,807,284 (GRCm39)		probably benign	Het
Narf	C	A	11: 121,136,209 (GRCm39)	P195Q	probably damaging	Het
Nfatc3	T	A	8: 106,818,745 (GRCm39)	F496I	probably damaging	Het
Nudt13	A	G	14: 20,360,772 (GRCm39)	Y225C	probably damaging	Het
Or10ab5	A	T	7: 108,245,428 (GRCm39)	Y118*	probably null	Het
Or11h4	T	G	14: 50,974,554 (GRCm39)	I22L	probably benign	Het
Or2i1	G	T	17: 37,508,380 (GRCm39)	R85S	possibly damaging	Het
Or56b1	C	T	7: 104,285,291 (GRCm39)	R137C	probably benign	Het
Osbpl10	C	T	9: 114,807,939 (GRCm39)	A65V	unknown	Het
Pdcd2l	A	G	7: 33,885,760 (GRCm39)	L308P	probably damaging	Het
Pitx2	T	A	3: 129,008,432 (GRCm39)		probably null	Het
Pms2	T	A	5: 143,862,744 (GRCm39)	F617Y	probably damaging	Het
Poc1b	A	G	10: 98,980,183 (GRCm39)	N180S	possibly damaging	Het
Poln	T	A	5: 34,286,485 (GRCm39)	M228L	probably benign	Het
Prex1	C	A	2: 166,432,429 (GRCm39)	V707F	possibly damaging	Het
Rasal2	A	T	1: 157,058,514 (GRCm39)	V12D	unknown	Het
Ripk1	A	G	13: 34,205,373 (GRCm39)	E284G	probably benign	Het
Rpa2	T	C	4: 132,499,251 (GRCm39)	W107R	probably damaging	Het
Selp	A	G	1: 163,954,177 (GRCm39)	Y159C	probably damaging	Het
Serpina1a	A	T	12: 103,824,293 (GRCm39)	W30R	probably benign	Het
Skic2	A	G	17: 35,065,579 (GRCm39)	V325A	probably damaging	Het
Slco6d1	A	G	1: 98,371,396 (GRCm39)	R294G	probably benign	Het
Supt5	A	T	7: 28,016,671 (GRCm39)	I737N	probably damaging	Het
Thap11	T	C	8: 106,582,660 (GRCm39)	V223A	probably damaging	Het
Trabd	T	A	15: 88,968,913 (GRCm39)	S144T	possibly damaging	Het
Trim24	T	A	6: 37,933,949 (GRCm39)	S701T	probably damaging	Het
Trim52	C	T	14: 106,344,986 (GRCm39)	P215S	possibly damaging	Het
Vmn1r172	G	T	7: 23,359,749 (GRCm39)	L211F	probably damaging	Het
Vmn2r86	A	C	10: 130,282,934 (GRCm39)	Y561D	probably damaging	Het
Zfp384	C	A	6: 125,013,336 (GRCm39)	A468E		Het
Zfp658	A	G	7: 43,223,381 (GRCm39)	H552R	possibly damaging	Het
Zranb2	T	C	3: 157,250,720 (GRCm39)	V297A	unknown	Het

Other mutations in Lrriq4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Lrriq4	APN	3	30,705,104 (GRCm39)	splice site	probably null
IGL01289:Lrriq4	APN	3	30,704,542 (GRCm39)	missense	probably damaging	1.00
IGL02130:Lrriq4	APN	3	30,704,896 (GRCm39)	missense	probably damaging	0.99
IGL02614:Lrriq4	APN	3	30,709,788 (GRCm39)	missense	probably damaging	1.00
R0329:Lrriq4	UTSW	3	30,709,873 (GRCm39)	missense	probably benign	0.03
R1340:Lrriq4	UTSW	3	30,704,472 (GRCm39)	missense	possibly damaging	0.46
R1440:Lrriq4	UTSW	3	30,704,910 (GRCm39)	missense	probably damaging	1.00
R1446:Lrriq4	UTSW	3	30,704,727 (GRCm39)	missense	probably benign	0.00
R1597:Lrriq4	UTSW	3	30,705,037 (GRCm39)	missense	probably damaging	1.00
R1763:Lrriq4	UTSW	3	30,704,401 (GRCm39)	missense	probably benign	0.19
R1923:Lrriq4	UTSW	3	30,713,242 (GRCm39)	missense	probably benign	0.13
R4024:Lrriq4	UTSW	3	30,704,422 (GRCm39)	missense	possibly damaging	0.46
R4026:Lrriq4	UTSW	3	30,704,422 (GRCm39)	missense	possibly damaging	0.46
R4645:Lrriq4	UTSW	3	30,704,892 (GRCm39)	missense	probably benign	0.20
R4816:Lrriq4	UTSW	3	30,714,196 (GRCm39)	missense	possibly damaging	0.73
R5049:Lrriq4	UTSW	3	30,705,086 (GRCm39)	missense	probably damaging	0.97
R5105:Lrriq4	UTSW	3	30,704,632 (GRCm39)	missense	probably damaging	1.00
R5298:Lrriq4	UTSW	3	30,699,481 (GRCm39)	start codon destroyed	probably null
R5487:Lrriq4	UTSW	3	30,714,144 (GRCm39)	missense	probably benign	0.16
R6147:Lrriq4	UTSW	3	30,713,228 (GRCm39)	missense	probably damaging	1.00
R6421:Lrriq4	UTSW	3	30,704,551 (GRCm39)	missense	probably damaging	1.00
R6452:Lrriq4	UTSW	3	30,709,882 (GRCm39)	missense	probably damaging	1.00
R6624:Lrriq4	UTSW	3	30,704,929 (GRCm39)	missense	probably benign	0.01
R7032:Lrriq4	UTSW	3	30,709,850 (GRCm39)	nonsense	probably null
R8111:Lrriq4	UTSW	3	30,709,930 (GRCm39)	missense	possibly damaging	0.87
R8786:Lrriq4	UTSW	3	30,704,752 (GRCm39)	missense	probably benign	0.02
R8862:Lrriq4	UTSW	3	30,705,088 (GRCm39)	missense	probably damaging	1.00
R8897:Lrriq4	UTSW	3	30,709,807 (GRCm39)	missense	probably damaging	1.00
R9720:Lrriq4	UTSW	3	30,714,077 (GRCm39)	missense	probably damaging	1.00
Z1177:Lrriq4	UTSW	3	30,704,145 (GRCm39)	missense	probably benign	0.06

Predicted Primers

PCR Primer
(F):5'- CCATCCCGTCAGAGATTTTGGC -3'
(R):5'- AGGTAGATCTCCCTGAGCTTG -3'

Sequencing Primer
(F):5'- CCCGTCAGAGATTTTGGCATTAAAAG -3'
(R):5'- AGATCTCCCTGAGCTTGGTTTG -3'

Posted On

2021-10-11