Mutagenetix > Incidental Mutation

Incidental Mutation 'R0629:Lrit3'

57741

Institutional Source

Beutler Lab

Gene Symbol

Lrit3

Ensembl Gene

ENSMUSG00000093865

Gene Name

leucine-rich repeat, immunoglobulin-like and transmembrane domains 3

Synonyms

LOC242235

MMRRC Submission

038818-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0629 (G1)

Quality Score

186

Status

Validated

Chromosome

Chromosomal Location

129581530-129597679 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 129581951 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 679 (Y679H)

Ref Sequence

ENSEMBL: ENSMUSP00000140184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000179187] [ENSMUST00000185462]

AlphaFold

W8DXL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000179187
AA Change: Y558H

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: Y558H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	20	61	2.7e-1	SMART
LRR	80	103	6.96e0	SMART
LRR	104	127	3.27e1	SMART
LRR_TYP	128	151	4.47e-3	SMART
LRR_TYP	152	175	7.37e-4	SMART
LRRCT	201	252	4.65e-2	SMART
Blast:IG	260	297	9e-13	BLAST
low complexity region	298	311	N/A	INTRINSIC
FN3	364	443	1.85e0	SMART
transmembrane domain	462	484	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000185462
AA Change: Y679H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: Y679H

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
LRRNT	20	61	1.3e-3	SMART
LRR	80	103	2.9e-2	SMART
LRR	104	127	1.4e-1	SMART
LRR_TYP	128	151	1.9e-5	SMART
LRR_TYP	152	175	3.2e-6	SMART
LRRCT	201	252	2.3e-4	SMART
IGc2	266	335	4.7e-11	SMART
low complexity region	340	352	N/A	INTRINSIC
low complexity region	362	376	N/A	INTRINSIC
low complexity region	408	432	N/A	INTRINSIC
FN3	485	564	9e-3	SMART
transmembrane domain	583	605	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000188978

Meta Mutation Damage Score

0.2439

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.6%

Validation Efficiency

100% (66/66)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that has a fibronectin type III domain and a C-terminal transmembrane domain, as well as a leucine-rich repeat domain and immunoglobulin-like domain near the N-terminus. The encoded protein may regulate fibroblast growth factor receptors and affect the modification of these receptors, which are glycosylated differently in the Golgi and endoplasmic reticulum. Mutations in this gene are associated with congenital stationary night blindness, type 1F. [provided by RefSeq, May 2013]
PHENOTYPE: Mice homozygous for a targeted allele show a selective absence of the ERG b-wave with a normal a-wave component under scotopic conditions, as well as variable ERG responses with larger a-wave amplitudes, shorter b-wave amplitudes, and longer implicit times of both waves under photopic conditions. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	A	T	17: 45,818,473 (GRCm39)	D86V	probably damaging	Het
Adamts14	G	A	10: 61,047,403 (GRCm39)	Q733*	probably null	Het
Adcy10	A	G	1: 165,370,674 (GRCm39)	D651G	probably damaging	Het
Apcdd1	T	A	18: 63,067,041 (GRCm39)	C52S	probably damaging	Het
Bclaf1	T	C	10: 20,209,172 (GRCm39)	S463P	probably damaging	Het
Cabcoco1	T	C	10: 68,352,108 (GRCm39)	Y68C	probably damaging	Het
Cacna1f	G	A	X: 7,486,673 (GRCm39)	S888N	probably damaging	Het
Cacna1g	A	G	11: 94,300,369 (GRCm39)	C2134R	possibly damaging	Het
Cdc37	A	C	9: 21,052,064 (GRCm39)	M325R	possibly damaging	Het
Clca3a2	T	A	3: 144,778,000 (GRCm39)	M762L	probably benign	Het
Cntn3	C	T	6: 102,180,937 (GRCm39)	V753M	probably damaging	Het
Col6a6	A	T	9: 105,604,364 (GRCm39)		probably benign	Het
Dscaml1	A	G	9: 45,632,716 (GRCm39)	D1194G	probably damaging	Het
Egfr	G	A	11: 16,819,333 (GRCm39)	G288S	probably damaging	Het
Fbxl17	G	T	17: 63,778,409 (GRCm39)	N19K	probably damaging	Het
Fmo3	A	G	1: 162,785,796 (GRCm39)		probably benign	Het
Frmd6	T	C	12: 70,930,536 (GRCm39)	Y219H	probably damaging	Het
Fuca1	T	C	4: 135,652,955 (GRCm39)	V193A	possibly damaging	Het
Gm7461	C	T	8: 4,727,769 (GRCm39)		noncoding transcript	Het
Gpc5	T	A	14: 115,789,651 (GRCm39)	N508K	possibly damaging	Het
Iqch	A	T	9: 63,332,664 (GRCm39)	D1019E	probably benign	Het
Isyna1	A	G	8: 71,047,358 (GRCm39)	Y27C	probably damaging	Het
Itgb8	T	G	12: 119,166,216 (GRCm39)	H105P	probably benign	Het
Kbtbd11	C	T	8: 15,077,572 (GRCm39)	P57L	probably benign	Het
Kcns3	A	C	12: 11,142,559 (GRCm39)	C47G	probably damaging	Het
Kif21b	A	T	1: 136,099,895 (GRCm39)		probably null	Het
Lama3	A	T	18: 12,552,302 (GRCm39)	H418L	possibly damaging	Het
Lrrc19	T	A	4: 94,526,489 (GRCm39)	D356V	probably damaging	Het
Morc2b	A	G	17: 33,354,781 (GRCm39)	M997T	probably benign	Het
Mroh9	T	C	1: 162,888,205 (GRCm39)	H290R	possibly damaging	Het
Mtcl1	A	T	17: 66,645,137 (GRCm39)	S1886T	possibly damaging	Het
Muc20	T	C	16: 32,613,791 (GRCm39)	T529A	possibly damaging	Het
Myo7a	A	C	7: 97,734,673 (GRCm39)	L607R	probably damaging	Het
Myom2	T	A	8: 15,119,783 (GRCm39)	F180I	probably damaging	Het
Myt1l	G	A	12: 29,861,484 (GRCm39)	E89K	unknown	Het
Nek2	A	G	1: 191,563,429 (GRCm39)	N431S	probably benign	Het
Oprm1	A	T	10: 6,782,604 (GRCm39)		probably null	Het
Or2aj4	A	T	16: 19,384,730 (GRCm39)	V301E	possibly damaging	Het
Or5t7	T	A	2: 86,506,873 (GRCm39)	H268L	possibly damaging	Het
Oxsr1	A	G	9: 119,070,850 (GRCm39)		probably benign	Het
Pasd1	G	C	X: 70,982,379 (GRCm39)	R296P	possibly damaging	Het
Pdgfrb	G	A	18: 61,211,720 (GRCm39)		probably null	Het
Proser1	C	A	3: 53,386,485 (GRCm39)	P789Q	probably benign	Het
Ptgs2	A	G	1: 149,976,788 (GRCm39)	Q7R	probably benign	Het
Rab3d	A	G	9: 21,825,982 (GRCm39)	V144A	probably benign	Het
Ralgapb	T	A	2: 158,281,467 (GRCm39)	L167H	probably damaging	Het
Ranbp3	A	G	17: 57,015,200 (GRCm39)	T301A	possibly damaging	Het
Rasgrf1	G	A	9: 89,866,322 (GRCm39)	V587M	probably damaging	Het
Sec16b	A	G	1: 157,392,433 (GRCm39)		probably benign	Het
Sin3b	T	C	8: 73,480,164 (GRCm39)		probably benign	Het
Slc10a2	T	C	8: 5,148,562 (GRCm39)	S128G	probably benign	Het
Tbl1xr1	G	A	3: 22,264,565 (GRCm39)	V507I	probably benign	Het
Tmem8b	T	G	4: 43,669,896 (GRCm39)		probably null	Het
Trak1	A	T	9: 121,196,233 (GRCm39)	T22S	probably benign	Het
Trim30d	A	G	7: 104,136,862 (GRCm39)	I114T	probably damaging	Het
Ttc13	A	T	8: 125,401,105 (GRCm39)	S624T	probably damaging	Het
Ttn	T	C	2: 76,658,474 (GRCm39)		probably benign	Het
Vipr1	T	A	9: 121,489,237 (GRCm39)	Y99*	probably null	Het
Vmn1r210	T	C	13: 23,012,044 (GRCm39)	K81E	probably damaging	Het
Wwc1	T	C	11: 35,744,299 (GRCm39)	Y841C	probably benign	Het
Xrcc4	A	G	13: 90,149,024 (GRCm39)		probably benign	Het
Zdhhc22	A	T	12: 87,035,071 (GRCm39)	I127N	probably damaging	Het
Zdhhc7	A	G	8: 120,814,785 (GRCm39)	L8P	possibly damaging	Het
Zfp664	C	A	5: 124,962,659 (GRCm39)	L18I	probably damaging	Het

Other mutations in Lrit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Lrit3	UTSW	3	129,582,468 (GRCm39)	small insertion	probably benign
FR4340:Lrit3	UTSW	3	129,582,457 (GRCm39)	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129,582,465 (GRCm39)	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129,582,462 (GRCm39)	small insertion	probably benign
FR4589:Lrit3	UTSW	3	129,597,562 (GRCm39)	frame shift	probably null
FR4737:Lrit3	UTSW	3	129,597,562 (GRCm39)	frame shift	probably null
FR4737:Lrit3	UTSW	3	129,582,459 (GRCm39)	small insertion	probably benign
FR4737:Lrit3	UTSW	3	129,582,455 (GRCm39)	small insertion	probably benign
FR4976:Lrit3	UTSW	3	129,597,559 (GRCm39)	unclassified	probably benign
R0555:Lrit3	UTSW	3	129,584,945 (GRCm39)	missense	probably damaging	1.00
R0631:Lrit3	UTSW	3	129,582,204 (GRCm39)	missense	probably damaging	1.00
R1690:Lrit3	UTSW	3	129,594,394 (GRCm39)	missense	probably damaging	0.99
R1902:Lrit3	UTSW	3	129,584,895 (GRCm39)	missense	probably benign	0.17
R1955:Lrit3	UTSW	3	129,594,130 (GRCm39)	missense	probably benign	0.11
R3155:Lrit3	UTSW	3	129,585,044 (GRCm39)	missense	probably benign	0.00
R4005:Lrit3	UTSW	3	129,585,021 (GRCm39)	missense	probably benign	0.14
R4445:Lrit3	UTSW	3	129,582,180 (GRCm39)	nonsense	probably null
R4675:Lrit3	UTSW	3	129,582,121 (GRCm39)	missense	probably damaging	1.00
R5104:Lrit3	UTSW	3	129,582,040 (GRCm39)	missense	possibly damaging	0.86
R5147:Lrit3	UTSW	3	129,597,574 (GRCm39)	missense	possibly damaging	0.78
R5271:Lrit3	UTSW	3	129,581,950 (GRCm39)	missense	probably damaging	1.00
R5505:Lrit3	UTSW	3	129,585,087 (GRCm39)	missense	possibly damaging	0.83
R5587:Lrit3	UTSW	3	129,582,547 (GRCm39)	missense	probably benign	0.25
R6056:Lrit3	UTSW	3	129,583,004 (GRCm39)	missense	probably damaging	1.00
R6239:Lrit3	UTSW	3	129,593,995 (GRCm39)	missense	probably damaging	0.98
R6280:Lrit3	UTSW	3	129,582,412 (GRCm39)	missense	probably damaging	0.99
R6305:Lrit3	UTSW	3	129,594,109 (GRCm39)	missense	probably damaging	0.98
R6441:Lrit3	UTSW	3	129,594,009 (GRCm39)	missense	probably benign
R6947:Lrit3	UTSW	3	129,582,883 (GRCm39)	missense	probably benign	0.01
R6949:Lrit3	UTSW	3	129,582,934 (GRCm39)	missense	probably damaging	1.00
R7850:Lrit3	UTSW	3	129,594,452 (GRCm39)	missense	probably damaging	1.00
R8157:Lrit3	UTSW	3	129,594,284 (GRCm39)	missense	probably benign	0.00
R8405:Lrit3	UTSW	3	129,582,301 (GRCm39)	missense	probably benign	0.26
R8896:Lrit3	UTSW	3	129,585,132 (GRCm39)	missense	probably damaging	1.00
R8937:Lrit3	UTSW	3	129,594,193 (GRCm39)	missense	probably damaging	1.00
R9794:Lrit3	UTSW	3	129,594,073 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGTCCCTAAAACTGTGGCAAGCTTC -3'
(R):5'- TGCAATGCACATCGGACCCTTTC -3'

Sequencing Primer
(F):5'- TCTTTATACAGACGCCATGCAG -3'
(R):5'- TTCTGGGAAGAGGATTTGTCAAAAG -3'

Posted On

2013-07-11