Mutagenetix > Incidental Mutation

Incidental Mutation 'R7537:Lrriq3'

583636

Institutional Source

Beutler Lab

Gene Symbol

Lrriq3

Ensembl Gene

ENSMUSG00000028182

Gene Name

leucine-rich repeats and IQ motif containing 3

Synonyms

4930511J15Rik, 4930438B07Rik, 4933403H06Rik, Lrrc44

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.077) question?

Stock #

R7537 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

155093434-155194280 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 155101097 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 128 (T128A)

Ref Sequence

ENSEMBL: ENSMUSP00000029833 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029833] [ENSMUST00000192383] [ENSMUST00000194376]

AlphaFold

Q14DL3

Predicted Effect

probably damaging
Transcript: ENSMUST00000029833
AA Change: T128A

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

SMART Domains

Protein: ENSMUSP00000029833
Gene: ENSMUSG00000028182
AA Change: T128A

Domain	Start	End	E-Value	Type
SCOP:d1dcea3	36	155	3e-14	SMART
Blast:LRR	71	94	3e-6	BLAST
Blast:LRR	96	118	1e-5	BLAST
IQ	214	236	3.68e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000192383
AA Change: T128A

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

SMART Domains

Protein: ENSMUSP00000141372
Gene: ENSMUSG00000028182
AA Change: T128A

Domain	Start	End	E-Value	Type
Pfam:LRR_8	50	109	9e-9	PFAM
Pfam:LRR_4	72	117	1.9e-8	PFAM
Pfam:LRR_1	73	94	5.1e-3	PFAM
IQ	214	236	3.68e0	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000194376
AA Change: T128A

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

SMART Domains

Protein: ENSMUSP00000142127
Gene: ENSMUSG00000028182
AA Change: T128A

Domain	Start	End	E-Value	Type
Pfam:LRR_8	50	109	7.2e-9	PFAM
Pfam:LRR_4	72	117	1.5e-8	PFAM
Pfam:LRR_1	73	94	4.2e-3	PFAM
IQ	214	236	3.68e0	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (63/63)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	C	3: 122,173,988	L2229P	possibly damaging	Het
Acaca	T	A	11: 84,260,634	M786K	probably damaging	Het
Acta2	G	A	19: 34,252,531	T8I	probably benign	Het
Adap1	T	G	5: 139,293,173	E117D	possibly damaging	Het
Ap5z1	T	C	5: 142,477,298	S746P	probably benign	Het
Appl2	A	G	10: 83,617,428	I208T	possibly damaging	Het
Astn1	G	A	1: 158,667,638		probably null	Het
Astn1	A	G	1: 158,505,386	E346G	possibly damaging	Het
Atp23	T	A	10: 126,868,725	I180L	unknown	Het
Bean1	CT	C	8: 104,182,032		probably null	Het
Cdh23	A	T	10: 60,384,945	I1340N	probably benign	Het
Cdh8	G	A	8: 99,098,885	Q493*	probably null	Het
Ces1g	T	C	8: 93,319,827	I357V	probably benign	Het
Ddx46	A	G	13: 55,650,478	D226G	probably damaging	Het
Eea1	C	T	10: 95,994,905	Q143*	probably null	Het
Erlin2	G	T	8: 27,031,772		probably null	Het
Fat3	T	A	9: 15,938,319	D3929V	probably damaging	Het
Flt3	T	C	5: 147,334,437	D898G	probably damaging	Het
Gm16519	A	G	17: 70,929,356	N100S	probably benign	Het
Gnl1	A	G	17: 35,988,536	H533R	probably damaging	Het
Gphn	A	G	12: 78,504,680	T301A	possibly damaging	Het
Herc2	C	T	7: 56,219,779	R4295*	probably null	Het
Insm2	T	C	12: 55,599,518	S16P	possibly damaging	Het
Jak2	C	T	19: 29,298,637	T778I	probably benign	Het
Lst1	A	G	17: 35,186,944		probably null	Het
Magi1	G	T	6: 93,708,110	Y762*	probably null	Het
Man2b1	T	A	8: 85,090,965	C358*	probably null	Het
Mga	T	C	2: 119,935,551	V1432A	probably damaging	Het
Mmp1a	TG	TGG	9: 7,465,083		probably null	Het
Morc2a	C	T	11: 3,683,566	Q587*	probably null	Het
Mrc2	T	C	11: 105,292,797	I4T	probably benign	Het
Muc16	C	A	9: 18,638,135	V5621F	probably benign	Het
Myl10	G	C	5: 136,697,971	V70L	probably benign	Het
Myo3b	A	G	2: 70,217,169	R340G	probably benign	Het
Nipal3	T	C	4: 135,490,937	Y34C	probably damaging	Het
Nktr	T	A	9: 121,749,279	D804E	unknown	Het
Nlrp4b	A	G	7: 10,714,889	M340V	probably benign	Het
Olfr1039	A	G	2: 86,131,264	V133A	probably benign	Het
Olfr385	T	A	11: 73,589,268	T157S	probably benign	Het
Olfr680-ps1	A	T	7: 105,092,771	M16K	probably benign	Het
Olfr701	G	A	7: 106,818,374	C97Y	probably damaging	Het
Pard3	T	A	8: 127,610,582	N1271K	probably damaging	Het
Pcdhb11	A	T	18: 37,421,619	M1L	possibly damaging	Het
Pclo	T	C	5: 14,682,104	V3540A	unknown	Het
Pemt	A	G	11: 59,976,844	F154S	probably damaging	Het
Ptpn18	G	A	1: 34,473,364	D417N	possibly damaging	Het
Rnpc3	G	T	3: 113,613,832	T376K	probably benign	Het
Rpe65	A	G	3: 159,604,609	Y143C	probably damaging	Het
Sbk2	T	C	7: 4,963,149	E12G	probably benign	Het
Slc2a5	T	C	4: 150,129,069	I106T	possibly damaging	Het
Snx13	A	G	12: 35,085,982	D92G	probably damaging	Het
Sorl1	C	T	9: 41,980,688	V1889I	probably benign	Het
Spag17	A	T	3: 99,939,247	N29I	possibly damaging	Het
Speg	T	C	1: 75,401,464	V878A	probably damaging	Het
Timp4	A	G	6: 115,250,460	S53P	probably damaging	Het
Tssk1	G	T	16: 17,895,084	E244D	probably benign	Het
Usp29	A	C	7: 6,961,220	T21P	possibly damaging	Het
Vmn2r85	A	T	10: 130,422,866	V440E	probably benign	Het
Wdr59	T	C	8: 111,490,369	D270G		Het
Zbbx	G	A	3: 75,085,519	P223S	probably damaging	Het
Zfp936	T	A	7: 43,189,815	C235*	probably null	Het
Zranb3	A	T	1: 128,032,847		probably null	Het

Other mutations in Lrriq3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00094:Lrriq3	APN	3	155101061	missense	probably benign	0.29
IGL00468:Lrriq3	APN	3	155101179	missense	probably damaging	1.00
IGL03272:Lrriq3	APN	3	155101058	missense	probably damaging	0.99
PIT1430001:Lrriq3	UTSW	3	155098870	missense	probably benign	0.36
R0526:Lrriq3	UTSW	3	155188297	missense	probably benign	0.00
R0600:Lrriq3	UTSW	3	155187736	missense	possibly damaging	0.51
R1420:Lrriq3	UTSW	3	155187712	missense	probably benign
R2313:Lrriq3	UTSW	3	155164023	missense	probably benign	0.00
R4024:Lrriq3	UTSW	3	155188302	missense	probably benign	0.43
R4659:Lrriq3	UTSW	3	155129453	missense	possibly damaging	0.47
R4801:Lrriq3	UTSW	3	155187970	missense	probably benign
R4802:Lrriq3	UTSW	3	155187970	missense	probably benign
R4864:Lrriq3	UTSW	3	155187810	missense	possibly damaging	0.91
R4998:Lrriq3	UTSW	3	155188058	missense	probably benign	0.13
R5120:Lrriq3	UTSW	3	155129384	missense	probably benign	0.14
R5319:Lrriq3	UTSW	3	155129471	missense	possibly damaging	0.88
R5406:Lrriq3	UTSW	3	155129501	critical splice donor site	probably null
R5943:Lrriq3	UTSW	3	155163950	missense	probably damaging	0.99
R6184:Lrriq3	UTSW	3	155129402	missense	probably benign	0.09
R6572:Lrriq3	UTSW	3	155181675	missense	probably benign	0.01
R7389:Lrriq3	UTSW	3	155188104	missense	probably benign	0.00
R7636:Lrriq3	UTSW	3	155188150	missense	probably damaging	1.00
R7806:Lrriq3	UTSW	3	155098807	missense	probably damaging	0.99
R8038:Lrriq3	UTSW	3	155164001	missense	probably benign	0.03
R8361:Lrriq3	UTSW	3	155101218	nonsense	probably null
R8439:Lrriq3	UTSW	3	155188236	missense	probably damaging	0.99
R8771:Lrriq3	UTSW	3	155193633	missense	probably damaging	1.00
R8864:Lrriq3	UTSW	3	155187938	missense	probably damaging	1.00
R8929:Lrriq3	UTSW	3	155188182	missense	probably damaging	1.00
R9134:Lrriq3	UTSW	3	155114546	critical splice donor site	probably null
R9792:Lrriq3	UTSW	3	155187676	missense	probably benign
R9793:Lrriq3	UTSW	3	155187676	missense	probably benign
R9795:Lrriq3	UTSW	3	155187676	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTTTTGGTTACTTACTAGGCACAC -3'
(R):5'- AAGCACCGTTGAGTGGGTTAC -3'

Sequencing Primer
(F):5'- GGCACACATAATTTACAAAACACTGG -3'
(R):5'- CCTTTATCAATGCTGGGTAAAGG -3'

Posted On

2019-10-17