Mutagenetix > Incidental Mutation

Incidental Mutation 'R0631:Lrit3'

57920

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

038820-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0631 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

129787881-129804030 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 129788555 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tryptophan at position 594 (C594W)

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: C473W

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

SMART Domains

Protein: ENSMUSP00000136912
Gene: ENSMUSG00000093865
AA Change: C473W

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: C594W

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

SMART Domains

Protein: ENSMUSP00000140184
Gene: ENSMUSG00000093865
AA Change: C594W

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

0.2317

Coding Region Coverage

1x: 99.4%
3x: 99.1%
10x: 98.1%
20x: 96.8%

Validation Efficiency

97% (129/133)

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: 131 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833427G06Rik	T	A	9: 51,101,953 (GRCm38)	R6S	probably benign	Het
Aadat	T	C	8: 60,529,445 (GRCm38)		probably benign	Het
Afap1l2	T	C	19: 56,916,085 (GRCm38)	E594G	probably benign	Het
Ak8	T	G	2: 28,735,665 (GRCm38)	I240S	probably damaging	Het
Akap13	T	C	7: 75,614,996 (GRCm38)	V174A	probably damaging	Het
Alppl2	G	A	1: 87,089,373 (GRCm38)	T66I	probably damaging	Het
Ankrd61	T	A	5: 143,894,879 (GRCm38)	I36F	probably damaging	Het
Antxrl	T	A	14: 34,058,801 (GRCm38)		probably null	Het
Arhgef2	G	C	3: 88,634,436 (GRCm38)	V244L	probably damaging	Het
Arid1a	A	G	4: 133,689,170 (GRCm38)	I1098T	unknown	Het
Atr	T	C	9: 95,874,777 (GRCm38)	V903A	possibly damaging	Het
AW549877	A	G	15: 3,986,489 (GRCm38)		probably benign	Het
B3gnt6	C	A	7: 98,193,692 (GRCm38)	A354S	probably benign	Het
Bnc1	A	T	7: 81,974,366 (GRCm38)	I371N	probably damaging	Het
Camsap1	A	T	2: 25,933,647 (GRCm38)	S1464T	probably damaging	Het
Cand2	G	A	6: 115,803,805 (GRCm38)	E1217K	probably damaging	Het
Cass4	T	C	2: 172,432,411 (GRCm38)	I728T	probably damaging	Het
Ccdc88a	A	T	11: 29,493,752 (GRCm38)	M1378L	probably damaging	Het
Ccdc9	C	A	7: 16,278,459 (GRCm38)	W266L	probably damaging	Het
Cct6b	C	A	11: 82,737,088 (GRCm38)		probably null	Het
Cd177	T	C	7: 24,756,686 (GRCm38)	E219G	probably benign	Het
Cdkal1	A	T	13: 29,354,684 (GRCm38)	Y497*	probably null	Het
Chmp2a	T	C	7: 13,032,444 (GRCm38)	E107G	probably damaging	Het
Chrna2	T	G	14: 66,149,308 (GRCm38)	V301G	probably benign	Het
Chrna7	A	G	7: 63,099,643 (GRCm38)	C364R	probably benign	Het
Cltc	G	T	11: 86,712,613 (GRCm38)	L796I	probably benign	Het
Col12a1	T	C	9: 79,703,376 (GRCm38)	T249A	probably damaging	Het
Col13a1	G	A	10: 61,887,350 (GRCm38)	Q270*	probably null	Het
Col6a1	C	T	10: 76,709,735 (GRCm38)	V968M	probably benign	Het
Copb1	C	A	7: 114,233,282 (GRCm38)	V511F	probably benign	Het
Daw1	C	G	1: 83,197,260 (GRCm38)	S160R	probably damaging	Het
Ddx46	A	G	13: 55,639,777 (GRCm38)		probably benign	Het
Depdc7	T	C	2: 104,721,987 (GRCm38)	K492E	possibly damaging	Het
Dmbt1	C	T	7: 131,097,653 (GRCm38)	A1004V	possibly damaging	Het
Dnah7b	G	A	1: 46,240,992 (GRCm38)	V2694I	probably benign	Het
Dnhd1	T	A	7: 105,651,624 (GRCm38)	F63I	probably benign	Het
Edc4	C	A	8: 105,890,792 (GRCm38)	A1052E	possibly damaging	Het
Eif2s2	T	A	2: 154,884,358 (GRCm38)	K129M	probably damaging	Het
Emx2	A	G	19: 59,464,028 (GRCm38)	D248G	probably damaging	Het
Erich6b	T	C	14: 75,659,009 (GRCm38)		probably benign	Het
Exoc3l4	A	G	12: 111,427,966 (GRCm38)	K507E	probably benign	Het
Fanci	T	A	7: 79,406,205 (GRCm38)	V195E	probably damaging	Het
Fgfr2	T	G	7: 130,227,239 (GRCm38)		probably benign	Het
Frem1	A	G	4: 82,972,165 (GRCm38)	S1007P	probably damaging	Het
Fry	T	C	5: 150,496,352 (GRCm38)	I993T	possibly damaging	Het
Fst	A	G	13: 114,454,502 (GRCm38)	S244P	possibly damaging	Het
Gcc1	T	C	6: 28,421,010 (GRCm38)	T103A	probably damaging	Het
Gdf2	C	T	14: 33,941,221 (GRCm38)	P24L	probably damaging	Het
Gja3	T	C	14: 57,036,762 (GRCm38)	D51G	possibly damaging	Het
Gm10305	A	G	4: 99,273,076 (GRCm38)	D74G	unknown	Het
Gm12689	G	T	4: 99,296,021 (GRCm38)	G37V	unknown	Het
Gm5424	C	T	10: 62,071,534 (GRCm38)		noncoding transcript	Het
Hephl1	T	C	9: 15,084,524 (GRCm38)	E434G	probably benign	Het
Htatip2	T	C	7: 49,773,311 (GRCm38)	C205R	possibly damaging	Het
Igf2r	T	C	17: 12,717,274 (GRCm38)		probably null	Het
Ints2	T	C	11: 86,233,196 (GRCm38)	I589V	probably benign	Het
Itgae	T	A	11: 73,114,907 (GRCm38)	V299D	probably damaging	Het
Kcnma1	T	C	14: 23,509,784 (GRCm38)		probably benign	Het
Kif11	A	G	19: 37,413,117 (GRCm38)		probably benign	Het
Kif13a	A	G	13: 46,778,888 (GRCm38)		probably benign	Het
Kif18a	T	A	2: 109,298,322 (GRCm38)		probably benign	Het
Klhl29	T	C	12: 5,094,883 (GRCm38)	T406A	probably benign	Het
Litaf	A	T	16: 10,966,412 (GRCm38)		probably benign	Het
Lmntd1	T	A	6: 145,430,000 (GRCm38)	I71F	probably benign	Het
Lrp6	T	A	6: 134,479,775 (GRCm38)	Q842L	possibly damaging	Het
Lrrcc1	T	A	3: 14,540,119 (GRCm38)		probably benign	Het
Macf1	A	T	4: 123,455,524 (GRCm38)	L1829*	probably null	Het
Mapk1ip1	T	C	7: 138,835,955 (GRCm38)	T249A	possibly damaging	Het
Mfap4	T	C	11: 61,487,180 (GRCm38)	F173L	probably damaging	Het
Mfsd9	C	A	1: 40,790,474 (GRCm38)		probably benign	Het
Mgat4b	T	C	11: 50,230,763 (GRCm38)	S69P	probably damaging	Het
Mki67	A	T	7: 135,704,388 (GRCm38)	V620D	probably damaging	Het
Moxd1	C	T	10: 24,252,954 (GRCm38)	T201I	probably damaging	Het
Msh4	G	C	3: 153,866,420 (GRCm38)	D774E	probably benign	Het
Myg1	C	T	15: 102,331,849 (GRCm38)	R37C	probably benign	Het
Myrf	C	A	19: 10,228,882 (GRCm38)	A57S	probably benign	Het
Ndst1	G	A	18: 60,700,359 (GRCm38)		probably benign	Het
Nedd4l	A	T	18: 65,208,503 (GRCm38)		probably benign	Het
Neil2	T	A	14: 63,183,400 (GRCm38)	I281F	possibly damaging	Het
Nfatc2	T	A	2: 168,590,115 (GRCm38)	D26V	probably benign	Het
Nt5c	A	G	11: 115,490,714 (GRCm38)		probably null	Het
Olfr1095	T	C	2: 86,850,967 (GRCm38)	T244A	probably benign	Het
Olfr1369-ps1	G	T	13: 21,115,908 (GRCm38)	C72F	probably damaging	Het
Olfr202	A	G	16: 59,284,207 (GRCm38)	C97R	possibly damaging	Het
Olfr372	T	A	8: 72,058,322 (GRCm38)	I214N	probably damaging	Het
Olfr538	T	G	7: 140,574,507 (GRCm38)	M118R	probably damaging	Het
Ovch2	A	G	7: 107,782,021 (GRCm38)	S557P	probably benign	Het
Pik3cg	A	G	12: 32,205,203 (GRCm38)	S262P	probably benign	Het
Pla2g6	T	A	15: 79,306,396 (GRCm38)	H322L	probably damaging	Het
Plch1	A	T	3: 63,699,219 (GRCm38)	L1079Q	probably benign	Het
Plekhg4	T	A	8: 105,379,302 (GRCm38)	V777D	probably damaging	Het
Plekhg5	A	G	4: 152,112,419 (GRCm38)	D747G	possibly damaging	Het
Poln	C	A	5: 34,118,958 (GRCm38)	V318F	possibly damaging	Het
Pou5f2	T	A	13: 78,025,754 (GRCm38)	S272T	probably benign	Het
Ppp1r3e	T	G	14: 54,876,616 (GRCm38)	S200R	possibly damaging	Het
Prl7d1	G	A	13: 27,710,182 (GRCm38)	P135S	probably benign	Het
Ptgs2	G	A	1: 150,104,537 (GRCm38)	V409I	probably benign	Het
Ptk2b	T	C	14: 66,177,751 (GRCm38)	T276A	probably damaging	Het
Ptpn3	T	C	4: 57,204,921 (GRCm38)	T747A	probably damaging	Het
Qrfpr	A	G	3: 36,221,989 (GRCm38)	I84T	probably damaging	Het
Rab44	A	G	17: 29,139,144 (GRCm38)	D102G	possibly damaging	Het
Rnf125	A	T	18: 20,979,083 (GRCm38)	D57V	possibly damaging	Het
Rnf145	T	C	11: 44,560,024 (GRCm38)	F392L	probably damaging	Het
Rttn	A	G	18: 88,989,546 (GRCm38)	N435S	probably benign	Het
Scn8a	A	G	15: 101,035,537 (GRCm38)	T1500A	probably damaging	Het
Sgsm1	A	G	5: 113,285,123 (GRCm38)		probably benign	Het
Sgsm3	A	T	15: 81,011,736 (GRCm38)	*751C	probably null	Het
Slc35c2	A	C	2: 165,280,929 (GRCm38)	L145R	probably damaging	Het
Slc4a7	A	T	14: 14,757,382 (GRCm38)	E396V	probably damaging	Het
Smarca4	G	C	9: 21,658,984 (GRCm38)		probably benign	Het
Snapc3	T	A	4: 83,417,802 (GRCm38)	V17D	probably damaging	Het
Snta1	G	T	2: 154,377,072 (GRCm38)	Q448K	probably benign	Het
Sptbn2	A	G	19: 4,739,986 (GRCm38)	D1334G	probably benign	Het
Stard5	A	G	7: 83,632,757 (GRCm38)	R41G	probably damaging	Het
Stxbp5	T	A	10: 9,784,358 (GRCm38)	N731I	probably benign	Het
Tmem135	T	A	7: 89,143,788 (GRCm38)	K413*	probably null	Het
Tmem38a	G	A	8: 72,580,018 (GRCm38)	V114I	probably benign	Het
Tpr	A	G	1: 150,422,531 (GRCm38)	T1057A	probably damaging	Het
Ttc23l	A	T	15: 10,539,980 (GRCm38)	L139Q	probably damaging	Het
Ttn	T	A	2: 76,755,296 (GRCm38)		probably null	Het
Tuba3b	A	G	6: 145,619,576 (GRCm38)	T257A	probably damaging	Het
Tubgcp6	A	C	15: 89,100,987 (GRCm38)	Y1633D	probably damaging	Het
Txnl1	C	T	18: 63,671,573 (GRCm38)		probably benign	Het
Unc13b	A	G	4: 43,182,849 (GRCm38)	Q3186R	possibly damaging	Het
Vmn2r75	T	A	7: 86,163,270 (GRCm38)	S514C	probably null	Het
Whrn	G	A	4: 63,419,489 (GRCm38)	T545I	probably damaging	Het
Zdhhc20	T	C	14: 57,857,640 (GRCm38)	H154R	probably damaging	Het
Zfp462	A	T	4: 55,007,563 (GRCm38)	M1L	possibly damaging	Het
Zfp831	A	G	2: 174,645,290 (GRCm38)	K586R	possibly damaging	Het
Zfp990	A	T	4: 145,537,302 (GRCm38)	H290L	possibly damaging	Het
Zfpm1	C	T	8: 122,336,874 (GRCm38)		probably benign	Het

Other mutations in Lrit3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4304:Lrit3	UTSW	3	129,788,819 (GRCm38)	small insertion	probably benign
FR4340:Lrit3	UTSW	3	129,788,808 (GRCm38)	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129,788,816 (GRCm38)	small insertion	probably benign
FR4548:Lrit3	UTSW	3	129,788,813 (GRCm38)	small insertion	probably benign
FR4589:Lrit3	UTSW	3	129,803,913 (GRCm38)	frame shift	probably null
FR4737:Lrit3	UTSW	3	129,803,913 (GRCm38)	frame shift	probably null
FR4737:Lrit3	UTSW	3	129,788,810 (GRCm38)	small insertion	probably benign
FR4737:Lrit3	UTSW	3	129,788,806 (GRCm38)	small insertion	probably benign
FR4976:Lrit3	UTSW	3	129,803,910 (GRCm38)	unclassified	probably benign
R0555:Lrit3	UTSW	3	129,791,296 (GRCm38)	missense	probably damaging	1.00
R0629:Lrit3	UTSW	3	129,788,302 (GRCm38)	missense	probably damaging	1.00
R1690:Lrit3	UTSW	3	129,800,745 (GRCm38)	missense	probably damaging	0.99
R1902:Lrit3	UTSW	3	129,791,246 (GRCm38)	missense	probably benign	0.17
R1955:Lrit3	UTSW	3	129,800,481 (GRCm38)	missense	probably benign	0.11
R3155:Lrit3	UTSW	3	129,791,395 (GRCm38)	missense	probably benign	0.00
R4005:Lrit3	UTSW	3	129,791,372 (GRCm38)	missense	probably benign	0.14
R4445:Lrit3	UTSW	3	129,788,531 (GRCm38)	nonsense	probably null
R4675:Lrit3	UTSW	3	129,788,472 (GRCm38)	missense	probably damaging	1.00
R5104:Lrit3	UTSW	3	129,788,391 (GRCm38)	missense	possibly damaging	0.86
R5147:Lrit3	UTSW	3	129,803,925 (GRCm38)	missense	possibly damaging	0.78
R5271:Lrit3	UTSW	3	129,788,301 (GRCm38)	missense	probably damaging	1.00
R5505:Lrit3	UTSW	3	129,791,438 (GRCm38)	missense	possibly damaging	0.83
R5587:Lrit3	UTSW	3	129,788,898 (GRCm38)	missense	probably benign	0.25
R6056:Lrit3	UTSW	3	129,789,355 (GRCm38)	missense	probably damaging	1.00
R6239:Lrit3	UTSW	3	129,800,346 (GRCm38)	missense	probably damaging	0.98
R6280:Lrit3	UTSW	3	129,788,763 (GRCm38)	missense	probably damaging	0.99
R6305:Lrit3	UTSW	3	129,800,460 (GRCm38)	missense	probably damaging	0.98
R6441:Lrit3	UTSW	3	129,800,360 (GRCm38)	missense	probably benign
R6947:Lrit3	UTSW	3	129,789,234 (GRCm38)	missense	probably benign	0.01
R6949:Lrit3	UTSW	3	129,789,285 (GRCm38)	missense	probably damaging	1.00
R7850:Lrit3	UTSW	3	129,800,803 (GRCm38)	missense	probably damaging	1.00
R8157:Lrit3	UTSW	3	129,800,635 (GRCm38)	missense	probably benign	0.00
R8405:Lrit3	UTSW	3	129,788,652 (GRCm38)	missense	probably benign	0.26
R8896:Lrit3	UTSW	3	129,791,483 (GRCm38)	missense	probably damaging	1.00
R8937:Lrit3	UTSW	3	129,800,544 (GRCm38)	missense	probably damaging	1.00
R9794:Lrit3	UTSW	3	129,800,424 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CGTTCATCTCGCCTGCAAAACC -3'
(R):5'- CATAAATGGCCTAGAGCCCGGAAG -3'

Sequencing Primer
(F):5'- AAGATTCATCTGGGAGTCCAC -3'
(R):5'- CCCGGAAGTCAGTATGTGG -3'

Posted On

2013-07-11