Mutagenetix > Incidental Mutation

Incidental Mutation 'R6960:Lrit1'

541721

Institutional Source

Beutler Lab

Gene Symbol

Lrit1

Ensembl Gene

ENSMUSG00000041044

Gene Name

leucine-rich repeat, immunoglobulin-like and transmembrane domains 1

Synonyms

Lrrc21

MMRRC Submission

045070-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.066) question?

Stock #

R6960 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

36776787-36786903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 36782052 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Leucine at position 242 (V242L)

Ref Sequence

ENSEMBL: ENSMUSP00000113964 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000120052]

AlphaFold

Q8K099

Predicted Effect

probably damaging
Transcript: ENSMUST00000120052
AA Change: V242L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: V242L

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LRRNT	22	63	1.97e-3	SMART
LRR	82	105	1.03e1	SMART
LRR	106	129	3e1	SMART
LRR	130	152	1.12e1	SMART
LRR_TYP	154	177	4.47e-3	SMART
LRRCT	201	253	2.04e-7	SMART
IGc2	267	336	6.55e-8	SMART
FN3	429	506	2.22e0	SMART
transmembrane domain	531	553	N/A	INTRINSIC
low complexity region	581	595	N/A	INTRINSIC
low complexity region	597	608	N/A	INTRINSIC

Meta Mutation Damage Score

0.1859

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

98% (50/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit impaired synaptic communication of cone photoreceptors. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	T	C	4: 53,072,924 (GRCm39)	D1170G	probably benign	Het
Ak7	A	T	12: 105,676,503 (GRCm39)	T68S	probably benign	Het
Arhgap12	A	T	18: 6,111,901 (GRCm39)	N26K	probably damaging	Het
B3galt1	A	T	2: 67,949,033 (GRCm39)	E249D	probably damaging	Het
Catsper4	T	A	4: 133,954,648 (GRCm39)	M1L	probably benign	Het
Cc2d2b	T	C	19: 40,773,506 (GRCm39)	V523A	possibly damaging	Het
Ccn4	C	T	15: 66,791,047 (GRCm39)	T283M	probably benign	Het
Cyp11a1	T	C	9: 57,925,659 (GRCm39)	F98S	probably damaging	Het
Cyp2d26	T	C	15: 82,674,446 (GRCm39)	S479G	probably damaging	Het
Dclre1a	T	G	19: 56,531,141 (GRCm39)	Y735S	probably damaging	Het
Dio2	C	T	12: 90,696,671 (GRCm39)	G106R	probably damaging	Het
Efcab12	T	C	6: 115,815,273 (GRCm39)		probably benign	Het
Ehhadh	C	A	16: 21,581,028 (GRCm39)	V655L	probably benign	Het
Ercc2	G	A	7: 19,127,615 (GRCm39)	R379Q	probably damaging	Het
Fabp4	A	G	3: 10,273,537 (GRCm39)	V12A	probably benign	Het
Fbn1	T	C	2: 125,223,980 (GRCm39)	I590V	probably benign	Het
Grm8	C	A	6: 27,981,281 (GRCm39)	V210L	probably damaging	Het
Jakmip3	A	G	7: 138,625,065 (GRCm39)	D359G	probably damaging	Het
Ly75	A	T	2: 60,136,749 (GRCm39)	Y1493N	probably benign	Het
Lyst	A	G	13: 13,808,663 (GRCm39)	N111S	probably benign	Het
Lyz2	G	C	10: 117,114,607 (GRCm39)	I107M	possibly damaging	Het
Mgat5	A	T	1: 127,248,371 (GRCm39)	D91V	possibly damaging	Het
Mical3	T	A	6: 120,935,504 (GRCm39)	D1674V	probably damaging	Het
Myom2	G	A	8: 15,167,741 (GRCm39)	A1109T	probably null	Het
Naa16	A	G	14: 79,596,911 (GRCm39)	Y358H	possibly damaging	Het
Nktr	T	A	9: 121,571,758 (GRCm39)	H226Q	probably damaging	Het
Ocln	T	G	13: 100,635,380 (GRCm39)	K503T	possibly damaging	Het
Olfm4	T	C	14: 80,258,754 (GRCm39)	L301S	probably damaging	Het
Or4f4b	G	A	2: 111,314,071 (GRCm39)	V127I	possibly damaging	Het
Or6c74	T	C	10: 129,869,972 (GRCm39)	L159P	probably benign	Het
Paqr4	G	A	17: 23,956,697 (GRCm39)	A222V	probably benign	Het
Pcdhb13	A	G	18: 37,576,509 (GRCm39)	T296A	probably benign	Het
Phka2	G	A	X: 159,316,044 (GRCm39)	V230I	probably damaging	Het
Pigg	T	C	5: 108,474,707 (GRCm39)	V309A	probably damaging	Het
Ptger4	T	C	15: 5,264,196 (GRCm39)	R462G	probably benign	Het
Ptprc	C	T	1: 138,006,183 (GRCm39)		probably null	Het
Rabggta	A	C	14: 55,959,299 (GRCm39)		probably null	Het
Rnf25	A	G	1: 74,634,403 (GRCm39)	S207P	possibly damaging	Het
Rsf1	G	GACGGCGGCC	7: 97,229,116 (GRCm39)		probably benign	Het
Rtf1	A	G	2: 119,541,559 (GRCm39)	Q264R	probably damaging	Het
Ryr2	A	G	13: 11,816,129 (GRCm39)	V619A	probably benign	Het
Serpinb6d	A	G	13: 33,855,181 (GRCm39)	N285S	probably benign	Het
Slamf6	A	G	1: 171,745,320 (GRCm39)	M16V	probably damaging	Het
Slc22a23	A	G	13: 34,528,140 (GRCm39)		probably null	Het
Slc23a2	T	C	2: 131,933,173 (GRCm39)	D95G	probably damaging	Het
Smc3	T	C	19: 53,617,802 (GRCm39)	Y600H	probably damaging	Het
Tarbp1	G	A	8: 127,155,778 (GRCm39)	T1320M	possibly damaging	Het
Tigd4	A	T	3: 84,501,423 (GRCm39)	K113N	probably damaging	Het
Tjp1	A	T	7: 64,952,763 (GRCm39)	F1444I	possibly damaging	Het
Tstd3	A	T	4: 21,767,118 (GRCm39)	M1K	probably null	Het
Zbtb46	T	C	2: 181,065,217 (GRCm39)	D311G	probably damaging	Het

Other mutations in Lrit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Lrit1	APN	14	36,782,112 (GRCm39)	missense	probably damaging	0.98
IGL01676:Lrit1	APN	14	36,779,394 (GRCm39)	missense	probably damaging	1.00
IGL02011:Lrit1	APN	14	36,784,280 (GRCm39)	missense	probably damaging	1.00
PIT4142001:Lrit1	UTSW	14	36,783,998 (GRCm39)	missense	probably damaging	1.00
R0194:Lrit1	UTSW	14	36,783,677 (GRCm39)	missense	probably damaging	1.00
R0348:Lrit1	UTSW	14	36,782,182 (GRCm39)	missense	probably damaging	1.00
R1444:Lrit1	UTSW	14	36,783,928 (GRCm39)	missense	probably benign
R1500:Lrit1	UTSW	14	36,784,091 (GRCm39)	missense	probably benign	0.23
R1884:Lrit1	UTSW	14	36,783,710 (GRCm39)	missense	possibly damaging	0.94
R2880:Lrit1	UTSW	14	36,779,394 (GRCm39)	missense	probably damaging	1.00
R4784:Lrit1	UTSW	14	36,784,193 (GRCm39)	missense	possibly damaging	0.79
R4855:Lrit1	UTSW	14	36,783,773 (GRCm39)	missense	possibly damaging	0.75
R5100:Lrit1	UTSW	14	36,784,171 (GRCm39)	missense	possibly damaging	0.74
R5365:Lrit1	UTSW	14	36,784,099 (GRCm39)	missense	probably benign	0.00
R5474:Lrit1	UTSW	14	36,783,943 (GRCm39)	missense	probably benign
R5475:Lrit1	UTSW	14	36,776,958 (GRCm39)	missense	probably benign	0.00
R5614:Lrit1	UTSW	14	36,783,911 (GRCm39)	missense	probably benign	0.39
R5688:Lrit1	UTSW	14	36,784,385 (GRCm39)	missense	possibly damaging	0.66
R5926:Lrit1	UTSW	14	36,776,966 (GRCm39)	missense	probably damaging	1.00
R6063:Lrit1	UTSW	14	36,776,945 (GRCm39)	missense	probably benign	0.05
R6920:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6940:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6941:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6943:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6945:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6957:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6958:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6959:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R6962:Lrit1	UTSW	14	36,782,052 (GRCm39)	missense	probably damaging	0.99
R7784:Lrit1	UTSW	14	36,783,737 (GRCm39)	missense	probably benign
R8124:Lrit1	UTSW	14	36,784,005 (GRCm39)	missense	probably benign	0.06
R8952:Lrit1	UTSW	14	36,783,664 (GRCm39)	missense	probably damaging	1.00
R9106:Lrit1	UTSW	14	36,776,891 (GRCm39)	missense	unknown
R9297:Lrit1	UTSW	14	36,783,993 (GRCm39)	missense	probably damaging	1.00
R9425:Lrit1	UTSW	14	36,784,208 (GRCm39)	missense	possibly damaging	0.89
R9712:Lrit1	UTSW	14	36,782,084 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCTTCCCAGAGGAGAAATGGAG -3'
(R):5'- GTCCACTTGGTTGCTCACAC -3'

Sequencing Primer
(F):5'- CTGGTTCTGAAGATCTGAGGTTAACC -3'
(R):5'- ACACCTGTGCCATTGAGTG -3'

Posted On

2018-11-28