Mutagenetix > Incidental Mutation

Incidental Mutation 'R9712:Lrit1'

730275

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

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R9712 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37054830-37064946 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 37060127 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 252 (C252*)

Ref Sequence

ENSEMBL: ENSMUSP00000113964 (fasta)

Gene Model

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

AlphaFold

Q8K099

Predicted Effect

probably null
Transcript: ENSMUST00000120052
AA Change: C252*

SMART Domains

Protein: ENSMUSP00000113964
Gene: ENSMUSG00000041044
AA Change: C252*

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

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: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	A	T	19: 3,715,784 (GRCm38)	M20L	probably benign	Het
9430007A20Rik	C	T	4: 144,528,784 (GRCm38)	A258V	probably benign	Het
Abca8b	T	A	11: 109,942,337 (GRCm38)	D1241V	probably benign	Het
Adam20	G	A	8: 40,795,453 (GRCm38)	R200H	probably benign	Het
Adcy10	T	C	1: 165,513,112 (GRCm38)	F229L	probably damaging	Het
Adsl	A	T	15: 80,955,639 (GRCm38)	N126I	probably benign	Het
Ahnak	GATCTCTAT	GAT	19: 9,007,029 (GRCm38)		probably benign	Het
Ahnak	AGATCTC	A	19: 9,007,028 (GRCm38)		probably benign	Het
Aktip	G	A	8: 91,129,727 (GRCm38)	P41S	probably damaging	Het
Alkbh3	C	A	2: 93,980,973 (GRCm38)	R258L	probably damaging	Het
Arfgap3	A	G	15: 83,313,533 (GRCm38)	Y341H	probably benign	Het
Arhgef26	C	T	3: 62,423,613 (GRCm38)	L583F	probably damaging	Het
Arhgef40	T	C	14: 51,988,958 (GRCm38)	I153T	probably damaging	Het
Atp1a1	T	C	3: 101,591,441 (GRCm38)	S179G	probably benign	Het
Bok	T	C	1: 93,686,507 (GRCm38)	S21P	probably damaging	Het
C130060K24Rik	A	G	6: 65,456,140 (GRCm38)	I315V	probably benign	Het
Ccdc136	A	G	6: 29,417,442 (GRCm38)	E754G	probably benign	Het
Cers3	A	G	7: 66,773,630 (GRCm38)	K108E	probably benign	Het
Cmya5	T	C	13: 93,065,373 (GRCm38)		probably null	Het
Col19a1	T	C	1: 24,328,067 (GRCm38)	E478G	possibly damaging	Het
Colec10	T	A	15: 54,459,784 (GRCm38)	S134R	possibly damaging	Het
Ctnnb1	A	T	9: 120,955,829 (GRCm38)	I514F	probably damaging	Het
Cux1	C	T	5: 136,309,819 (GRCm38)	E664K	probably benign	Het
Dars	T	C	1: 128,405,462 (GRCm38)	Q75R	probably benign	Het
Disp1	T	A	1: 183,135,815 (GRCm38)	S16C	probably damaging	Het
Dnah7a	A	T	1: 53,559,140 (GRCm38)	V1412E	probably benign	Het
Ect2l	C	T	10: 18,168,434 (GRCm38)	V226I	probably benign	Het
Ep400	T	A	5: 110,756,643 (GRCm38)	H30L	unknown	Het
Ephx4	A	G	5: 107,419,781 (GRCm38)	I202V	probably benign	Het
Exoc3	A	T	13: 74,192,908 (GRCm38)	F259Y	probably damaging	Het
Ezr	T	C	17: 6,752,995 (GRCm38)	E229G	probably damaging	Het
Fat1	A	T	8: 45,017,380 (GRCm38)	I1472L	probably benign	Het
Fsd1l	T	G	4: 53,679,972 (GRCm38)	D223E	probably benign	Het
Gata6	A	T	18: 11,059,064 (GRCm38)	D377V	possibly damaging	Het
Gm12185	A	T	11: 48,907,389 (GRCm38)	M759K	probably benign	Het
Gm21994	C	T	2: 150,254,576 (GRCm38)	R311Q	probably benign	Het
Gm9922	C	T	14: 101,729,457 (GRCm38)	A120T	unknown	Het
Hectd4	A	T	5: 121,310,681 (GRCm38)	Y364F	probably benign	Het
Hnrnph1	A	G	11: 50,385,869 (GRCm38)	S465G	unknown	Het
Ifi204	T	C	1: 173,749,358 (GRCm38)	Y559C	probably damaging	Het
Ift88	T	C	14: 57,481,396 (GRCm38)	S613P	probably damaging	Het
Kif21a	G	C	15: 90,985,325 (GRCm38)	A441G	probably damaging	Het
Kif21a	G	T	15: 90,995,512 (GRCm38)	T191K	probably benign	Het
Ncbp1	T	A	4: 46,144,837 (GRCm38)	D29E	probably benign	Het
Nlrp10	A	T	7: 108,925,528 (GRCm38)	D248E	probably damaging	Het
Nphp4	T	G	4: 152,547,064 (GRCm38)	V807G	probably benign	Het
Nsd1	T	C	13: 55,246,043 (GRCm38)	S589P	possibly damaging	Het
Oas1b	T	A	5: 120,814,485 (GRCm38)	N80K	probably damaging	Het
Olfr1055	G	A	2: 86,347,239 (GRCm38)	H176Y	probably benign	Het
Olfr1135	A	T	2: 87,671,761 (GRCm38)	I202N	probably benign	Het
Oprk1	T	A	1: 5,598,873 (GRCm38)	C181S	probably damaging	Het
Oprl1	T	A	2: 181,718,419 (GRCm38)	N89K	probably damaging	Het
Pdcd11	A	G	19: 47,129,302 (GRCm38)	K1697E	probably damaging	Het
Pdp1	G	A	4: 11,961,607 (GRCm38)	H254Y	probably benign	Het
Pds5b	A	T	5: 150,805,663 (GRCm38)	D1419V	possibly damaging	Het
Per1	G	T	11: 69,100,649 (GRCm38)	G3V	probably benign	Het
Pex16	C	A	2: 92,376,643 (GRCm38)	N55K	probably damaging	Het
Phldb2	C	A	16: 45,774,977 (GRCm38)	L862F	probably benign	Het
Pld5	T	A	1: 175,964,006 (GRCm38)	D478V	probably benign	Het
Pms2	T	C	5: 143,914,796 (GRCm38)	I177T	probably damaging	Het
Pou1f1	A	T	16: 65,529,872 (GRCm38)	E119D	probably benign	Het
Ppp2r1a	A	C	17: 20,958,796 (GRCm38)	E295A	probably damaging	Het
Rad51ap2	A	T	12: 11,457,592 (GRCm38)	N505I	possibly damaging	Het
Rasal3	A	C	17: 32,396,562 (GRCm38)	V434G	probably damaging	Het
Rasgrf2	C	T	13: 91,987,973 (GRCm38)	V6M		Het
Rwdd1	A	T	10: 34,001,156 (GRCm38)	D197E		Het
Scn11a	A	T	9: 119,790,010 (GRCm38)	C755*	probably null	Het
Skil	T	C	3: 31,116,860 (GRCm38)	S443P	probably benign	Het
Slc12a6	T	C	2: 112,356,472 (GRCm38)	C939R	probably damaging	Het
Slc25a36	A	G	9: 97,079,177 (GRCm38)	S269P	probably benign	Het
Srrm4	T	A	5: 116,482,393 (GRCm38)	H92L	unknown	Het
Styk1	CTCTTCATGATTTTCTT	CTCTT	6: 131,301,649 (GRCm38)		probably benign	Het
Tbc1d4	A	T	14: 101,507,410 (GRCm38)	V260E	probably benign	Het
Tbc1d8	T	C	1: 39,385,232 (GRCm38)	N593D	probably damaging	Het
Trex1	C	A	9: 109,058,737 (GRCm38)	R62L	probably damaging	Het
Trpm3	A	T	19: 22,715,352 (GRCm38)	D269V	possibly damaging	Het
Trpv4	G	T	5: 114,633,150 (GRCm38)	Y439*	probably null	Het
Ttn	G	A	2: 76,734,248 (GRCm38)	T28515I	probably damaging	Het
Ucn2	G	A	9: 108,986,503 (GRCm38)	G111D	probably damaging	Het
Uhrf2	A	G	19: 30,056,481 (GRCm38)	I212V	possibly damaging	Het
Usp24	T	A	4: 106,347,367 (GRCm38)	M261K	probably benign	Het
Vmn1r235	A	T	17: 21,261,698 (GRCm38)	D95V	probably benign	Het
Vwf	G	A	6: 125,624,573 (GRCm38)	R826Q		Het
Zfp28	T	C	7: 6,393,879 (GRCm38)	C438R	probably damaging	Het

Other mutations in Lrit1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01621:Lrit1	APN	14	37,060,155 (GRCm38)	missense	probably damaging	0.98
IGL01676:Lrit1	APN	14	37,057,437 (GRCm38)	missense	probably damaging	1.00
IGL02011:Lrit1	APN	14	37,062,323 (GRCm38)	missense	probably damaging	1.00
PIT4142001:Lrit1	UTSW	14	37,062,041 (GRCm38)	missense	probably damaging	1.00
R0194:Lrit1	UTSW	14	37,061,720 (GRCm38)	missense	probably damaging	1.00
R0348:Lrit1	UTSW	14	37,060,225 (GRCm38)	missense	probably damaging	1.00
R1444:Lrit1	UTSW	14	37,061,971 (GRCm38)	missense	probably benign
R1500:Lrit1	UTSW	14	37,062,134 (GRCm38)	missense	probably benign	0.23
R1884:Lrit1	UTSW	14	37,061,753 (GRCm38)	missense	possibly damaging	0.94
R2880:Lrit1	UTSW	14	37,057,437 (GRCm38)	missense	probably damaging	1.00
R4784:Lrit1	UTSW	14	37,062,236 (GRCm38)	missense	possibly damaging	0.79
R4855:Lrit1	UTSW	14	37,061,816 (GRCm38)	missense	possibly damaging	0.75
R5100:Lrit1	UTSW	14	37,062,214 (GRCm38)	missense	possibly damaging	0.74
R5365:Lrit1	UTSW	14	37,062,142 (GRCm38)	missense	probably benign	0.00
R5474:Lrit1	UTSW	14	37,061,986 (GRCm38)	missense	probably benign
R5475:Lrit1	UTSW	14	37,055,001 (GRCm38)	missense	probably benign	0.00
R5614:Lrit1	UTSW	14	37,061,954 (GRCm38)	missense	probably benign	0.39
R5688:Lrit1	UTSW	14	37,062,428 (GRCm38)	missense	possibly damaging	0.66
R5926:Lrit1	UTSW	14	37,055,009 (GRCm38)	missense	probably damaging	1.00
R6063:Lrit1	UTSW	14	37,054,988 (GRCm38)	missense	probably benign	0.05
R6920:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6940:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6941:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6943:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6945:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6957:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6958:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6959:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6960:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R6962:Lrit1	UTSW	14	37,060,095 (GRCm38)	missense	probably damaging	0.99
R7784:Lrit1	UTSW	14	37,061,780 (GRCm38)	missense	probably benign
R8124:Lrit1	UTSW	14	37,062,048 (GRCm38)	missense	probably benign	0.06
R8952:Lrit1	UTSW	14	37,061,707 (GRCm38)	missense	probably damaging	1.00
R9106:Lrit1	UTSW	14	37,054,934 (GRCm38)	missense	unknown
R9297:Lrit1	UTSW	14	37,062,036 (GRCm38)	missense	probably damaging	1.00
R9425:Lrit1	UTSW	14	37,062,251 (GRCm38)	missense	possibly damaging	0.89

Predicted Primers

PCR Primer
(F):5'- CTCACTTCTACAGGGCTTCAGG -3'
(R):5'- ATTACATGCATACAGAGGAGAGCC -3'

Sequencing Primer
(F):5'- TTCTACAGGGCTTCAGGACAAC -3'
(R):5'- GAGAGCCCAGCCTGGATTATAC -3'

Posted On

2022-10-06