Mutagenetix > Incidental Mutation

Incidental Mutation 'R8841:Lin7a'

674431

Institutional Source

Beutler Lab

Gene Symbol

Lin7a

Ensembl Gene

ENSMUSG00000019906

Gene Name

lin-7 homolog A, crumbs cell polarity complex component

Synonyms

MALS-1, LIN-7A, Veli, TIP-33

MMRRC Submission

068732-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8841 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

107107547-107257335 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107218524 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 145 (R145G)

Ref Sequence

ENSEMBL: ENSMUSP00000020057 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020057] [ENSMUST00000105280] [ENSMUST00000218031]

AlphaFold

Q8JZS0

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020057
AA Change: R145G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020057
Gene: ENSMUSG00000019906
AA Change: R145G

Domain	Start	End	E-Value	Type
L27	28	83	2.59e-12	SMART
low complexity region	84	99	N/A	INTRINSIC
PDZ	116	190	1.32e-23	SMART
low complexity region	210	229	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105280
AA Change: R23G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000100916
Gene: ENSMUSG00000019906
AA Change: R23G

Domain	Start	End	E-Value	Type
PDZ	1	68	8.27e-16	SMART
coiled coil region	69	93	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218031
AA Change: R23G

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (63/63)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is involved in generating and maintaining the asymmetric distribution of channels and receptors at the cell membrane. The encoded protein also is required for the localization of some specific channels and can be part of a protein complex that couples synaptic vesicle exocytosis to cell adhesion in the brain. [provided by RefSeq, May 2016]
PHENOTYPE: Mice homozygous for disruptions in this gene display a normal phenotype. [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
Abca1	C	T	4: 53,143,925 (GRCm39)		probably benign	Het
Chaf1b	C	T	16: 93,701,908 (GRCm39)	T510I	probably benign	Het
Chrd	T	A	16: 20,554,487 (GRCm39)		probably benign	Het
Dennd2d	A	G	3: 106,393,580 (GRCm39)	Q11R	probably benign	Het
Dmrta1	A	C	4: 89,579,950 (GRCm39)	R303S	probably benign	Het
Emsy	A	G	7: 98,264,768 (GRCm39)	I543T	possibly damaging	Het
Fbxw2	G	A	2: 34,712,844 (GRCm39)		probably benign	Het
Fndc1	A	G	17: 7,992,181 (GRCm39)	V505A	unknown	Het
Foxf1	T	C	8: 121,811,919 (GRCm39)	V261A	probably damaging	Het
Fyb1	T	C	15: 6,681,972 (GRCm39)	V773A	probably damaging	Het
Gask1b	A	G	3: 79,794,426 (GRCm39)	E298G	probably benign	Het
Glp2r	G	T	11: 67,653,555 (GRCm39)	P77T	probably damaging	Het
Gpam	C	A	19: 55,066,950 (GRCm39)	D522Y	probably damaging	Het
Hpgd	T	A	8: 56,760,709 (GRCm39)	N135K	probably damaging	Het
Hsph1	T	A	5: 149,550,789 (GRCm39)	R437W	probably damaging	Het
Kif1c	G	A	11: 70,615,659 (GRCm39)	V588I	probably benign	Het
Klhdc4	T	A	8: 122,523,380 (GRCm39)	E554V	possibly damaging	Het
Krt33a	A	G	11: 99,904,961 (GRCm39)	S182P	probably damaging	Het
Lad1	A	G	1: 135,754,970 (GRCm39)	D82G	probably benign	Het
Lmna	A	G	3: 88,391,920 (GRCm39)		probably null	Het
Lrrc8b	T	C	5: 105,628,188 (GRCm39)	V178A	probably benign	Het
Lrwd1	T	C	5: 136,152,037 (GRCm39)	R647G	possibly damaging	Het
Mapt	A	G	11: 104,201,203 (GRCm39)	E153G	probably damaging	Het
Mefv	C	T	16: 3,528,842 (GRCm39)	C563Y	probably benign	Het
Myo7b	T	C	18: 32,097,490 (GRCm39)	N1792S	probably benign	Het
Nkx6-3	C	T	8: 23,646,274 (GRCm39)	T148M	probably damaging	Het
Nomo1	T	A	7: 45,707,911 (GRCm39)	S573T	probably benign	Het
Ntrk3	G	T	7: 78,005,841 (GRCm39)	R507S	probably damaging	Het
Or2v2	A	C	11: 49,003,938 (GRCm39)	I205S	probably benign	Het
Or4k15	T	A	14: 50,364,666 (GRCm39)	F211I	probably damaging	Het
Or52e5	T	A	7: 104,719,479 (GRCm39)	N268K	possibly damaging	Het
Or6c200-ps1	A	G	10: 128,870,042 (GRCm39)	V223A	probably benign	Het
Or7e168	A	T	9: 19,719,885 (GRCm39)	R90S	probably benign	Het
Or8g21	A	G	9: 38,905,879 (GRCm39)	M284T	possibly damaging	Het
Pcdhb8	A	G	18: 37,488,699 (GRCm39)	I126V	probably benign	Het
Phactr4	A	G	4: 132,092,884 (GRCm39)		probably null	Het
Pign	T	C	1: 105,485,634 (GRCm39)		probably benign	Het
Plekhn1	A	G	4: 156,316,655 (GRCm39)	L342P	probably damaging	Het
Pomk	G	A	8: 26,476,407 (GRCm39)	A49V	probably benign	Het
Prss50	A	G	9: 110,687,480 (GRCm39)	D141G	probably benign	Het
Ralgps1	A	C	2: 33,045,329 (GRCm39)	F406L	probably benign	Het
Rexo5	G	A	7: 119,448,011 (GRCm39)	S752N	probably benign	Het
Rin3	A	T	12: 102,335,537 (GRCm39)	I483L	probably benign	Het
Scn1a	T	A	2: 66,156,466 (GRCm39)	D481V	probably benign	Het
Scnn1a	T	C	6: 125,320,208 (GRCm39)	I554T	probably damaging	Het
Shc2	A	G	10: 79,458,150 (GRCm39)	V511A	probably damaging	Het
Slc18a2	C	T	19: 59,261,713 (GRCm39)	S200F	probably damaging	Het
Slc25a38	A	G	9: 119,949,845 (GRCm39)	D208G	probably damaging	Het
Smok3c	C	A	5: 138,063,537 (GRCm39)	D341E	probably damaging	Het
Tfcp2	A	G	15: 100,410,989 (GRCm39)	I373T	probably damaging	Het
Tnpo3	T	A	6: 29,589,182 (GRCm39)	D56V	probably damaging	Het
Trrap	T	A	5: 144,781,021 (GRCm39)	Y3261N	probably damaging	Het
Ttll12	A	T	15: 83,465,993 (GRCm39)		probably benign	Het
Ulk4	A	G	9: 121,033,804 (GRCm39)	C612R	probably damaging	Het
Ush1g	G	T	11: 115,210,007 (GRCm39)	D62E	probably damaging	Het
Vmn2r124	A	G	17: 18,283,299 (GRCm39)	N331S		Het
Vmn2r4	T	C	3: 64,314,058 (GRCm39)	I308V	probably damaging	Het
Vwa8	T	A	14: 79,184,702 (GRCm39)	V400E	probably benign	Het
Washc2	A	G	6: 116,235,916 (GRCm39)	D1129G	probably benign	Het
Washc5	G	T	15: 59,206,971 (GRCm39)	Q1101K	probably damaging	Het
Wfdc17	G	T	11: 83,594,938 (GRCm39)	L7F	probably benign	Het
Xpo4	T	C	14: 57,835,413 (GRCm39)	K636R	probably damaging	Het
Zan	T	A	5: 137,454,936 (GRCm39)	T1367S	unknown	Het
Zfp691	A	T	4: 119,027,861 (GRCm39)	S124T	probably damaging	Het

Other mutations in Lin7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Lin7a	APN	10	107,247,886 (GRCm39)	missense	possibly damaging	0.94
R1226:Lin7a	UTSW	10	107,107,780 (GRCm39)	missense	probably benign
R1386:Lin7a	UTSW	10	107,247,983 (GRCm39)	missense	unknown
R1449:Lin7a	UTSW	10	107,159,813 (GRCm39)	missense	probably damaging	0.99
R1543:Lin7a	UTSW	10	107,247,930 (GRCm39)	missense	possibly damaging	0.46
R1845:Lin7a	UTSW	10	107,247,920 (GRCm39)	missense	probably damaging	1.00
R4599:Lin7a	UTSW	10	107,248,027 (GRCm39)	missense	unknown
R5001:Lin7a	UTSW	10	107,218,530 (GRCm39)	nonsense	probably null
R6324:Lin7a	UTSW	10	107,216,076 (GRCm39)	splice site	probably null
R6700:Lin7a	UTSW	10	107,216,167 (GRCm39)	splice site	probably null
R7023:Lin7a	UTSW	10	107,218,489 (GRCm39)	missense	possibly damaging	0.65
R7670:Lin7a	UTSW	10	107,218,552 (GRCm39)	missense	possibly damaging	0.91
R7902:Lin7a	UTSW	10	107,159,843 (GRCm39)	missense	possibly damaging	0.88
R8355:Lin7a	UTSW	10	107,218,497 (GRCm39)	missense	probably damaging	1.00
R9229:Lin7a	UTSW	10	107,247,844 (GRCm39)	missense	probably damaging	0.97
R9456:Lin7a	UTSW	10	107,218,483 (GRCm39)	missense	possibly damaging	0.82
R9733:Lin7a	UTSW	10	107,247,905 (GRCm39)	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- GAGATGTCTAAGACACTGTTTTCTG -3'
(R):5'- CCTGTGGAGATGGATATAAAATTGC -3'

Sequencing Primer
(F):5'- GTCTAAGACACTGTTTTCTGAAGATC -3'
(R):5'- GCTGTCTGTACTGTAATCTCAACAC -3'

Posted On

2021-07-15