Mutagenetix > Incidental Mutation

Incidental Mutation 'R5688:Lrit1'

443529

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

043321-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R5688 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

36776787-36786903 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 36784385 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 571 (A571V)

Ref Sequence

ENSEMBL: ENSMUSP00000113964 (fasta)

Gene Model

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

AlphaFold

Q8K099

Predicted Effect

possibly damaging
Transcript: ENSMUST00000120052
AA Change: A571V

PolyPhen 2 Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: A571V

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

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.3%
20x: 95.3%

Validation Efficiency

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp7	G	A	7: 28,315,920 (GRCm39)	A222V	probably benign	Het
Ahnak	A	G	19: 8,979,883 (GRCm39)	D389G	probably benign	Het
Aldh1l2	A	T	10: 83,337,789 (GRCm39)	S559T	possibly damaging	Het
Alms1	T	A	6: 85,576,877 (GRCm39)	N144K	possibly damaging	Het
Anp32b	T	A	4: 46,469,868 (GRCm39)		probably null	Het
Atf7	C	T	15: 102,459,944 (GRCm39)	R57H	probably damaging	Het
Atp10b	A	T	11: 43,092,000 (GRCm39)	H345L	probably benign	Het
Cacna2d1	A	T	5: 16,563,950 (GRCm39)	I859F	probably damaging	Het
Calcr	T	A	6: 3,714,730 (GRCm39)		probably null	Het
Cd248	A	G	19: 5,119,963 (GRCm39)	T604A	probably benign	Het
Cemip	C	T	7: 83,610,849 (GRCm39)	V702M	probably damaging	Het
Cep295	G	T	9: 15,243,282 (GRCm39)	Q469K	probably damaging	Het
Cntn5	A	G	9: 9,748,427 (GRCm39)	W485R	probably damaging	Het
Cpe	T	C	8: 65,062,189 (GRCm39)	N289S	possibly damaging	Het
Cyp2j11	G	A	4: 96,233,358 (GRCm39)	R113C	probably damaging	Het
Dcp1b	T	C	6: 119,194,872 (GRCm39)	S531P	probably benign	Het
Defb7	T	G	8: 19,545,167 (GRCm39)	L15R	probably damaging	Het
Dnah2	C	T	11: 69,349,746 (GRCm39)	R2399Q	probably benign	Het
Ednrb	T	C	14: 104,060,831 (GRCm39)	D198G	probably damaging	Het
Engase	A	C	11: 118,378,146 (GRCm39)	E312A	possibly damaging	Het
Evl	G	A	12: 108,639,612 (GRCm39)		probably null	Het
Faf1	C	A	4: 109,652,010 (GRCm39)	Q234K	probably damaging	Het
Garre1	T	A	7: 33,953,416 (GRCm39)	T449S	possibly damaging	Het
Garre1	T	G	7: 33,984,134 (GRCm39)	D163A	probably damaging	Het
Gm5460	C	A	14: 33,767,752 (GRCm39)	N453K	possibly damaging	Het
Gm7356	T	A	17: 14,220,869 (GRCm39)	I387F	possibly damaging	Het
H1f2	A	G	13: 23,923,148 (GRCm39)	K106R	probably damaging	Het
Hagh	T	C	17: 25,069,568 (GRCm39)	M1T	probably null	Het
Hars1	A	T	18: 36,905,369 (GRCm39)	V155E	probably damaging	Het
Lca5	C	A	9: 83,280,619 (GRCm39)	D394Y	probably benign	Het
Lmtk3	T	C	7: 45,440,834 (GRCm39)	L280P	probably damaging	Het
Map4k2	C	A	19: 6,396,836 (GRCm39)	P584H	probably damaging	Het
Mgst1	T	C	6: 138,118,798 (GRCm39)		probably benign	Het
Mtrex	A	T	13: 113,009,590 (GRCm39)	C936*	probably null	Het
Neb	C	T	2: 52,086,339 (GRCm39)	V5245I	probably damaging	Het
Oas3	T	C	5: 120,896,867 (GRCm39)	N918S	probably benign	Het
Or4c106	C	T	2: 88,683,023 (GRCm39)	T243I	probably benign	Het
Or5d16	T	A	2: 87,773,552 (GRCm39)	Q140L	probably benign	Het
Or8b8	A	C	9: 37,809,359 (GRCm39)	I220L	possibly damaging	Het
Ovch2	A	G	7: 107,393,201 (GRCm39)	L224P	probably damaging	Het
Patj	A	T	4: 98,409,047 (GRCm39)	K34*	probably null	Het
Pcf11	T	A	7: 92,308,016 (GRCm39)	R717S	possibly damaging	Het
Plcb1	A	T	2: 135,177,400 (GRCm39)	E577D	probably benign	Het
Plxnb2	T	C	15: 89,042,899 (GRCm39)	K1497E	probably damaging	Het
Pyroxd1	C	A	6: 142,299,266 (GRCm39)	L141I	probably damaging	Het
Rhobtb3	G	T	13: 76,020,537 (GRCm39)	N588K	probably benign	Het
Rnasel	G	A	1: 153,629,452 (GRCm39)		probably benign	Het
Sh3bp5	C	A	14: 31,099,452 (GRCm39)	R265L	probably benign	Het
Shank1	A	T	7: 44,003,911 (GRCm39)	I1868F	possibly damaging	Het
Slc28a3	A	T	13: 58,706,463 (GRCm39)	S593T	probably damaging	Het
Slc29a4	T	C	5: 142,699,853 (GRCm39)	I168T	possibly damaging	Het
Slc35f5	C	T	1: 125,518,775 (GRCm39)	P502L	probably benign	Het
Slco6d1	T	C	1: 98,408,493 (GRCm39)	I463T	probably damaging	Het
Slk	A	G	19: 47,608,451 (GRCm39)	D468G	probably benign	Het
Spata31d1d	G	T	13: 59,874,322 (GRCm39)	P1071Q	probably damaging	Het
Tert	G	A	13: 73,787,275 (GRCm39)	V754I	probably damaging	Het
Thada	T	C	17: 84,759,155 (GRCm39)	T235A	probably benign	Het
Ttn	T	C	2: 76,564,472 (GRCm39)	D28555G	probably damaging	Het
Ttn	T	A	2: 76,710,328 (GRCm39)		probably null	Het
Ubqln4	T	C	3: 88,472,575 (GRCm39)	L464P	probably damaging	Het
Unc45b	A	T	11: 82,813,643 (GRCm39)	N350I	possibly damaging	Het
Vmn2r65	T	C	7: 84,589,900 (GRCm39)	D672G	probably benign	Het
Zfp947	T	A	17: 22,365,066 (GRCm39)	I203L	probably benign	Het
Zfp964	T	A	8: 70,116,766 (GRCm39)	H454Q	probably benign	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
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
R6960: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'- AGACCAAGTATGTGGCATGTG -3'
(R):5'- GGACTCAGACTCAGCAGAAGTAC -3'

Sequencing Primer
(F):5'- CGAAGGAGCAATGTGTCATCTTCTC -3'
(R):5'- CTCAGCAGAAGTACTCATTGATGCG -3'

Posted On

2016-11-09