Mutagenetix > Incidental Mutation

Incidental Mutation 'R4599:Lin7a'

345448

Institutional Source

Beutler Lab

Gene Symbol

Lin7a

Ensembl Gene

ENSMUSG00000019906

Gene Name

lin-7 homolog A (C. elegans)

Synonyms

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

MMRRC Submission

041815-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4599 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107271686-107421474 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 107412166 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 111 (S111P)

Ref Sequence

ENSEMBL: ENSMUSP00000151715 (fasta)

Gene Model

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

AlphaFold

Q8JZS0

Predicted Effect

unknown
Transcript: ENSMUST00000020057
AA Change: S233P

SMART Domains

Protein: ENSMUSP00000020057
Gene: ENSMUSG00000019906
AA Change: S233P

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

unknown
Transcript: ENSMUST00000105280
AA Change: S111P

SMART Domains

Protein: ENSMUSP00000100916
Gene: ENSMUSG00000019906
AA Change: S111P

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

Predicted Effect

unknown
Transcript: ENSMUST00000218031
AA Change: S111P

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	T	C	7: 120,255,403	V930A	probably benign	Het
Ankrd13b	T	C	11: 77,471,668	R677G	probably benign	Het
Apc	T	A	18: 34,317,987	Y2611*	probably null	Het
Apold1	A	G	6: 134,984,069	Y162C	probably damaging	Het
Atp6v0a4	T	C	6: 38,078,802	I325V	probably benign	Het
Cab39	A	G	1: 85,848,329	Y249C	probably damaging	Het
Cd22	T	A	7: 30,875,900	H239L	probably damaging	Het
Chrna7	A	G	7: 63,103,790	M327T	probably damaging	Het
Clock	T	C	5: 76,235,810	M499V	probably benign	Het
Clspn	A	G	4: 126,581,460	E1002G	probably benign	Het
Clta	C	T	4: 44,012,819	P10S	probably damaging	Het
Col5a3	A	G	9: 20,774,559		probably null	Het
Coq6	T	C	12: 84,362,139	V30A	probably benign	Het
Csmd2	G	T	4: 127,988,128	R20L	probably benign	Het
D430041D05Rik	A	T	2: 104,208,183	V1547D	probably damaging	Het
Dapk1	C	T	13: 60,718,047	P153S	probably benign	Het
Dock2	T	A	11: 34,239,536	Y1545F	probably damaging	Het
Dpp6	G	T	5: 27,634,548	G354C	probably damaging	Het
Dyrk1b	T	C	7: 28,182,431	L105P	probably damaging	Het
Epor	A	G	9: 21,961,859	S86P	probably benign	Het
Fam166b	T	C	4: 43,427,574	H250R	possibly damaging	Het
Gale	C	A	4: 135,967,837	S341*	probably null	Het
Galnt4	T	A	10: 99,109,493	V360E	probably damaging	Het
Gart	A	T	16: 91,622,945	C24*	probably null	Het
Gcnt2	G	T	13: 40,887,490	V42L	probably benign	Het
Herc6	A	G	6: 57,659,713	I805V	probably benign	Het
Ints12	T	A	3: 133,098,453	I67N	probably benign	Het
Irx1	C	A	13: 71,960,113	R150L	probably damaging	Het
Kif26b	A	G	1: 178,530,459	Y45C	unknown	Het
Krt35	T	C	11: 100,094,008	T275A	probably damaging	Het
Laptm5	G	T	4: 130,916,005		probably benign	Het
Med27	A	G	2: 29,524,458	D159G	probably damaging	Het
Msh2	A	G	17: 87,708,578	K546R	probably damaging	Het
Myo1a	A	T	10: 127,720,151		probably null	Het
Myo1c	T	C	11: 75,668,193	F604L	probably damaging	Het
Myrip	A	G	9: 120,464,784	K782E	probably damaging	Het
Ndc80	T	C	17: 71,521,068	D88G	probably damaging	Het
Nrxn2	A	G	19: 6,455,252	D375G	probably damaging	Het
Olfr1380	T	C	11: 49,564,718	S266P	probably damaging	Het
Olfr676	A	G	7: 105,036,073	I292V	probably benign	Het
Padi3	T	C	4: 140,798,111	H187R	probably damaging	Het
Pcdhgb1	A	T	18: 37,681,557	N367I	probably damaging	Het
Pdrg1	T	C	2: 153,012,390	I77V	probably benign	Het
Pfas	T	C	11: 68,991,069	E930G	probably benign	Het
Pik3cb	C	T	9: 99,061,764	R662Q	probably benign	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plxnd1	A	T	6: 115,994,276	V177E	probably damaging	Het
Prmt7	A	G	8: 106,250,329	S558G	possibly damaging	Het
Pspc1	A	C	14: 56,777,789		probably null	Het
Rilp	T	C	11: 75,512,760	S343P	probably benign	Het
Ror1	A	G	4: 100,407,910	M194V	probably damaging	Het
Rsu1	T	C	2: 13,170,004	Y225C	probably damaging	Het
Rundc1	A	G	11: 101,433,926	N486S	probably damaging	Het
Sema6d	T	A	2: 124,654,231	I65N	probably damaging	Het
Slc5a11	A	G	7: 123,258,378	E230G	probably benign	Het
Spint1	T	C	2: 119,246,460	S342P	probably damaging	Het
Stard3nl	A	G	13: 19,367,753	S214P	probably damaging	Het
Tcp10a	A	C	17: 7,336,924	T271P	probably damaging	Het
Tie1	A	G	4: 118,472,634	Y1091H	probably benign	Het
Tlr12	T	C	4: 128,617,332	Y375C	probably benign	Het
Tmem107	T	A	11: 69,071,448	M77K	probably damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Tns3	T	C	11: 8,531,747	K202E	probably damaging	Het
Tspoap1	C	T	11: 87,779,521	P1634L	probably damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Ush2a	A	G	1: 188,911,647	N4402S	probably benign	Het
Vmn2r13	A	T	5: 109,156,456	I703N	probably damaging	Het
Xrcc4	A	G	13: 90,062,007		probably null	Het
Zp3	A	T	5: 135,984,235	K168*	probably null	Het

Other mutations in Lin7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01951:Lin7a	APN	10	107412025	missense	possibly damaging	0.94
R1226:Lin7a	UTSW	10	107271919	missense	probably benign
R1386:Lin7a	UTSW	10	107412122	missense	unknown
R1449:Lin7a	UTSW	10	107323952	missense	probably damaging	0.99
R1543:Lin7a	UTSW	10	107412069	missense	possibly damaging	0.46
R1845:Lin7a	UTSW	10	107412059	missense	probably damaging	1.00
R5001:Lin7a	UTSW	10	107382669	nonsense	probably null
R6324:Lin7a	UTSW	10	107380215	splice site	probably null
R6700:Lin7a	UTSW	10	107380306	splice site	probably null
R7023:Lin7a	UTSW	10	107382628	missense	possibly damaging	0.65
R7670:Lin7a	UTSW	10	107382691	missense	possibly damaging	0.91
R7902:Lin7a	UTSW	10	107323982	missense	possibly damaging	0.88
R8355:Lin7a	UTSW	10	107382636	missense	probably damaging	1.00
R8841:Lin7a	UTSW	10	107382663	missense	possibly damaging	0.95
R9229:Lin7a	UTSW	10	107411983	missense	probably damaging	0.97
R9456:Lin7a	UTSW	10	107382622	missense	possibly damaging	0.82
R9733:Lin7a	UTSW	10	107412044	missense	possibly damaging	0.50

Predicted Primers

PCR Primer
(F):5'- AGCACCATGAGAAAGCTGTG -3'
(R):5'- TTCCATATGCGGAGACTGTAGC -3'

Sequencing Primer
(F):5'- CCATGAGAAAGCTGTGGAACTTCTC -3'
(R):5'- ACTGTAGCTGAATGACTCATGG -3'

Posted On

2015-09-25