Mutagenetix > Incidental Mutation

Incidental Mutation 'R8862:Lrriq4'

675697

Institutional Source

Beutler Lab

Gene Symbol

Lrriq4

Ensembl Gene

ENSMUSG00000027703

Gene Name

leucine-rich repeats and IQ motif containing 4

Synonyms

4930558O21Rik

MMRRC Submission

068741-MU

Accession Numbers

Essential gene?

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

Stock #

R8862 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

30698656-30726580 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 30705088 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 372 (N372I)

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 damaging
Transcript: ENSMUST00000108265
AA Change: N357I

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

SMART Domains

Protein: ENSMUSP00000103900
Gene: ENSMUSG00000027703
AA Change: N357I

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 damaging
Transcript: ENSMUST00000108267
AA Change: N372I

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

SMART Domains

Protein: ENSMUSP00000103902
Gene: ENSMUSG00000027703
AA Change: N372I

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 damaging
Transcript: ENSMUST00000172350
AA Change: N372I

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

SMART Domains

Protein: ENSMUSP00000127052
Gene: ENSMUSG00000027703
AA Change: N372I

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

0.8387

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acin1	C	T	14: 54,901,172 (GRCm39)	G685R	probably benign	Het
Ahdc1	T	C	4: 132,791,129 (GRCm39)	F790S	possibly damaging	Het
Alg10b	T	C	15: 90,109,893 (GRCm39)	Y69H	probably damaging	Het
Amer3	A	T	1: 34,626,465 (GRCm39)	S235C	probably damaging	Het
Ankfy1	G	T	11: 72,644,469 (GRCm39)	S722I	probably benign	Het
Baz1a	T	C	12: 55,032,624 (GRCm39)		probably benign	Het
Ccdc177	A	G	12: 80,804,208 (GRCm39)	S689P	unknown	Het
Cdh24	C	A	14: 54,869,874 (GRCm39)	R681L	probably damaging	Het
Cdk14	T	G	5: 5,060,862 (GRCm39)	I338L	probably benign	Het
Clec2m	T	C	6: 129,308,494 (GRCm39)	T12A	probably benign	Het
Col18a1	G	T	10: 76,949,044 (GRCm39)	S156*	probably null	Het
Col6a6	T	C	9: 105,663,348 (GRCm39)	Y63C	probably damaging	Het
Cytip	G	A	2: 58,037,887 (GRCm39)	T159M	probably benign	Het
Dnah5	T	C	15: 28,459,502 (GRCm39)		probably benign	Het
Dock3	T	C	9: 106,855,927 (GRCm39)	Y744C	probably damaging	Het
Dop1a	T	C	9: 86,406,404 (GRCm39)		probably null	Het
Dse	A	T	10: 34,029,934 (GRCm39)	D385E	probably damaging	Het
Efhc1	A	C	1: 21,037,573 (GRCm39)	D250A		Het
Epha3	T	A	16: 63,431,348 (GRCm39)	T519S	probably benign	Het
Gas2l3	A	G	10: 89,250,282 (GRCm39)	Y279H	probably damaging	Het
Gatd3a	A	G	10: 78,005,461 (GRCm39)	S35P	probably damaging	Het
Gemin6	G	A	17: 80,535,432 (GRCm39)	V131I	probably damaging	Het
Gm40460	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	CACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAGGAACTACAGCCTCCCTTGCAGCCCCCACAG	7: 141,794,554 (GRCm39)		probably benign	Het
Gnai2	C	A	9: 107,512,326 (GRCm39)	A31S		Het
Greb1l	A	G	18: 10,555,042 (GRCm39)	D1696G	possibly damaging	Het
Itfg2	T	C	6: 128,394,668 (GRCm39)	E35G	probably damaging	Het
Kctd10	A	G	5: 114,503,921 (GRCm39)	F244L	probably damaging	Het
Kif19b	C	A	5: 140,472,534 (GRCm39)	P686Q	probably damaging	Het
Krtap5-1	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	ACAGGGCTTGCAGCAGCTGGACTGACAGCAGCAGGGCTTGCAGCAGCTGGACTGACAGCAG	7: 141,850,333 (GRCm39)		probably benign	Het
Lgals9	G	T	11: 78,860,716 (GRCm39)		probably benign	Het
Mical2	A	G	7: 111,910,574 (GRCm39)	N248S	probably damaging	Het
Mipep	T	A	14: 61,080,689 (GRCm39)	C560*	probably null	Het
Myo1a	G	A	10: 127,548,653 (GRCm39)	V396M	probably benign	Het
Myod1	A	G	7: 46,026,487 (GRCm39)	T131A	probably damaging	Het
Nalcn	T	A	14: 123,647,199 (GRCm39)	D558V	possibly damaging	Het
Odf2l	T	A	3: 144,833,758 (GRCm39)		probably benign	Het
Or6d13	G	A	6: 116,518,186 (GRCm39)	M257I	probably benign	Het
Plbd2	A	T	5: 120,624,728 (GRCm39)	M480K	probably damaging	Het
Ppargc1a	A	G	5: 51,631,235 (GRCm39)	F465L	possibly damaging	Het
Ppp1r15b	A	T	1: 133,064,506 (GRCm39)	I659F	probably damaging	Het
Prune2	C	T	19: 17,097,510 (GRCm39)	L1005F	probably benign	Het
Pter	T	C	2: 12,985,341 (GRCm39)	S224P	probably damaging	Het
Ralgapa2	A	G	2: 146,266,731 (GRCm39)	I615T	probably benign	Het
Ror1	T	C	4: 100,191,715 (GRCm39)		probably null	Het
Rps2	A	G	17: 24,940,662 (GRCm39)	T259A	probably benign	Het
Rsf1	GCG	GCGACGGCGCCG	7: 97,229,114 (GRCm39)		probably benign	Het
S1pr4	G	A	10: 81,334,533 (GRCm39)	R314C	probably damaging	Het
Sema4f	A	T	6: 82,891,081 (GRCm39)	H575Q	probably benign	Het
Son	A	G	16: 91,453,734 (GRCm39)	D827G	probably damaging	Het
Sox8	A	T	17: 25,787,045 (GRCm39)	H219Q	possibly damaging	Het
Spink2	C	T	5: 77,357,615 (GRCm39)	D24N	probably benign	Het
Stard9	A	G	2: 120,534,099 (GRCm39)	D3452G	probably benign	Het
Syngr2	G	T	11: 117,703,507 (GRCm39)	D108Y	probably damaging	Het
Tardbp	G	A	4: 148,702,755 (GRCm39)	S403L	possibly damaging	Het
Tomm70a	T	C	16: 56,942,546 (GRCm39)	S108P	probably benign	Het
Ttc12	T	C	9: 49,351,515 (GRCm39)	T661A	probably benign	Het
Tubgcp6	A	G	15: 89,006,824 (GRCm39)	V66A	probably benign	Het
Unc13b	T	A	4: 43,235,207 (GRCm39)	L477Q	probably damaging	Het
Vmn1r77	T	A	7: 11,776,060 (GRCm39)	C279S	probably benign	Het
Vmn2r79	T	C	7: 86,645,712 (GRCm39)	S14P	probably benign	Het
Zan	T	C	5: 137,472,674 (GRCm39)	T72A	probably benign	Het
Zcchc2	A	G	1: 105,958,998 (GRCm39)	*1156W	probably null	Het
Zfp354c	A	T	11: 50,708,718 (GRCm39)	D26E	probably benign	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
R8897:Lrriq4	UTSW	3	30,709,807 (GRCm39)	missense	probably damaging	1.00
R9021:Lrriq4	UTSW	3	30,704,401 (GRCm39)	missense	probably benign	0.29
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'- TGTCGCTGCATCTGCTGTAC -3'
(R):5'- TCTAATGTGTCCTTGAGAATGAACG -3'

Sequencing Primer
(F):5'- TGCTGTACCTGCGCAACAC -3'
(R):5'- GTGTCCTTGAGAATGAACGCACATAC -3'

Posted On

2021-07-15