Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01730:Lin7c'

105450

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lin7c

Ensembl Gene

ENSMUSG00000027162

Gene Name

lin-7 homolog C, crumbs cell polarity complex component

Synonyms

LIN-7-C, Lin7c, MALS-3, 9130007B12Rik, Veli3, D2Ertd520e, LIN-7C

Accession Numbers

Essential gene?

Probably essential (E-score: 0.808) question?

Stock #

IGL01730

Quality Score

Status

Chromosome

Chromosomal Location

109721205-109731348 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 109726785 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Stop codon at position 145 (G145*)

Ref Sequence

ENSEMBL: ENSMUSP00000028583 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028583]

AlphaFold

O88952

Predicted Effect

probably null
Transcript: ENSMUST00000028583
AA Change: G145*

SMART Domains

Protein: ENSMUSP00000028583
Gene: ENSMUSG00000027162
AA Change: G145*

Domain	Start	End	E-Value	Type
L27	13	68	6.68e-15	SMART
low complexity region	71	84	N/A	INTRINSIC
PDZ	101	175	1e-23	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151163

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Targeted disruption of this gene appears to have no phenotype, but when combined with Lin7a or Lin7a and Lin7b results in early postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1	A	G	5: 36,119,583 (GRCm39)	E287G	probably damaging	Het
Bhmt	A	T	13: 93,761,917 (GRCm39)	V122E	probably damaging	Het
Camta1	A	G	4: 151,147,302 (GRCm39)	I585T	probably damaging	Het
Cfap221	A	G	1: 119,861,841 (GRCm39)	S645P	probably benign	Het
Derl1	A	T	15: 57,755,543 (GRCm39)	F50Y	possibly damaging	Het
Dhrs3	T	C	4: 144,646,042 (GRCm39)	S117P	probably damaging	Het
E2f8	A	T	7: 48,527,682 (GRCm39)		probably benign	Het
Fbn1	A	T	2: 125,154,894 (GRCm39)		probably benign	Het
Fbxo15	A	G	18: 84,982,299 (GRCm39)	I250M	probably benign	Het
Ghr	A	T	15: 3,350,066 (GRCm39)	S371T	probably damaging	Het
Gm5884	A	T	6: 128,622,669 (GRCm39)		noncoding transcript	Het
Grhl2	T	C	15: 37,338,018 (GRCm39)	V496A	probably benign	Het
Gsap	A	G	5: 21,495,152 (GRCm39)		probably benign	Het
Irak3	T	C	10: 120,014,005 (GRCm39)	D148G	probably benign	Het
Itga2	A	T	13: 114,990,947 (GRCm39)		probably benign	Het
Kif13b	T	C	14: 64,987,810 (GRCm39)		probably null	Het
Kif20b	A	T	19: 34,927,923 (GRCm39)	K1022*	probably null	Het
Klhl17	G	T	4: 156,316,157 (GRCm39)	S399*	probably null	Het
Lcp2	A	T	11: 34,000,943 (GRCm39)	D42V	possibly damaging	Het
Lrba	A	G	3: 86,648,731 (GRCm39)	D2493G	possibly damaging	Het
Mobp	A	G	9: 119,996,992 (GRCm39)	D41G	probably damaging	Het
Mycbp2	G	A	14: 103,372,640 (GRCm39)	Q785*	probably null	Het
Myl6b	T	C	10: 128,332,211 (GRCm39)	Y85C	possibly damaging	Het
Nup133	G	T	8: 124,664,972 (GRCm39)	H240N	probably benign	Het
Or5b12	A	C	19: 12,896,926 (GRCm39)	F249C	probably damaging	Het
Plk4	T	C	3: 40,760,285 (GRCm39)	S394P	probably benign	Het
Prepl	A	G	17: 85,388,603 (GRCm39)	Y167H	possibly damaging	Het
Prkab1	A	G	5: 116,159,551 (GRCm39)	L105P	probably damaging	Het
Ryr2	T	A	13: 11,616,728 (GRCm39)	I3897L	possibly damaging	Het
Sema3c	A	G	5: 17,916,434 (GRCm39)	S469G	probably benign	Het
Serpinb3c	T	A	1: 107,200,914 (GRCm39)	S168C	probably damaging	Het
Snapc4	A	T	2: 26,253,736 (GRCm39)		probably null	Het
Sorcs2	A	T	5: 36,205,153 (GRCm39)	M528K	probably damaging	Het
Spink10	T	A	18: 62,784,816 (GRCm39)		probably null	Het
Tent5b	A	T	4: 133,213,833 (GRCm39)		probably null	Het
Thsd7a	C	A	6: 12,554,980 (GRCm39)	Q301H	probably benign	Het
Tmem135	A	T	7: 88,797,252 (GRCm39)	F335I	possibly damaging	Het
Tshr	A	T	12: 91,486,077 (GRCm39)	D217V	possibly damaging	Het
Ttyh1	G	A	7: 4,128,720 (GRCm39)	V206M	possibly damaging	Het
Tusc3	T	G	8: 39,617,880 (GRCm39)	*348G	probably null	Het
Vmn2r76	G	A	7: 85,879,406 (GRCm39)	T298I	probably benign	Het
Wdr47	T	C	3: 108,518,712 (GRCm39)	F67L	probably damaging	Het

Other mutations in Lin7c

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00432:Lin7c	APN	2	109,726,798 (GRCm39)	splice site	probably benign
R0055:Lin7c	UTSW	2	109,726,798 (GRCm39)	splice site	probably benign
R0055:Lin7c	UTSW	2	109,726,798 (GRCm39)	splice site	probably benign
R0157:Lin7c	UTSW	2	109,725,514 (GRCm39)	missense	probably damaging	0.99
R4022:Lin7c	UTSW	2	109,726,790 (GRCm39)	splice site	probably null
R7459:Lin7c	UTSW	2	109,727,682 (GRCm39)	missense	probably benign	0.31
R7694:Lin7c	UTSW	2	109,726,617 (GRCm39)	missense	probably benign	0.04
R7756:Lin7c	UTSW	2	109,726,717 (GRCm39)	missense	probably damaging	0.99
R7758:Lin7c	UTSW	2	109,726,717 (GRCm39)	missense	probably damaging	0.99
R8546:Lin7c	UTSW	2	109,726,716 (GRCm39)	missense	probably null	0.04
R9484:Lin7c	UTSW	2	109,724,813 (GRCm39)	missense	probably benign	0.34

Posted On

2014-01-21