Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01448:Lin7b'

84498

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Lin7b

Ensembl Gene

ENSMUSG00000003872

Gene Name

lin-7 homolog B (C. elegans)

Synonyms

LIN-7B, Veli2, MALS-2

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.491) question?

Stock #

IGL01448

Quality Score

Status

Chromosome

Chromosomal Location

45367891-45370583 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 45369200 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 12 (V12M)

Ref Sequence

ENSEMBL: ENSMUSP00000147294 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003961] [ENSMUST00000003971] [ENSMUST00000210865] [ENSMUST00000211067]

AlphaFold

O88951

Predicted Effect

probably benign
Transcript: ENSMUST00000003961

SMART Domains

Protein: ENSMUSP00000003961
Gene: ENSMUSG00000003863

Domain	Start	End	E-Value	Type
coiled coil region	27	129	N/A	INTRINSIC
coiled coil region	167	426	N/A	INTRINSIC
coiled coil region	448	500	N/A	INTRINSIC
low complexity region	534	550	N/A	INTRINSIC
coiled coil region	597	642	N/A	INTRINSIC
low complexity region	651	672	N/A	INTRINSIC
low complexity region	707	719	N/A	INTRINSIC
SAM	835	904	1.46e-10	SMART
SAM	950	1017	8.22e-5	SMART
SAM	1038	1110	3.58e-5	SMART
low complexity region	1156	1169	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000003971
AA Change: V127M

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000003971
Gene: ENSMUSG00000003872
AA Change: V127M

Domain	Start	End	E-Value	Type
L27	13	68	1.96e-12	SMART
low complexity region	71	84	N/A	INTRINSIC
PDZ	101	175	6.16e-24	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000058665

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209226

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209424

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209756

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210216

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210360

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210586

Predicted Effect

probably damaging
Transcript: ENSMUST00000210865
AA Change: V12M

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211416

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211463

Coding Region Coverage

Validation Efficiency

MGI Phenotype

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020A23Rik	A	T	2: 130,405,847 (GRCm38)	E75D	possibly damaging	Het
1700084J12Rik	A	G	15: 33,405,633 (GRCm38)		probably benign	Het
2610303G11Rik	T	A	9: 98,186,709 (GRCm38)		noncoding transcript	Het
4931414P19Rik	T	C	14: 54,585,960 (GRCm38)	D320G	possibly damaging	Het
Adamts6	G	A	13: 104,297,164 (GRCm38)	E34K	probably damaging	Het
Alms1	T	A	6: 85,677,899 (GRCm38)	N3142K	possibly damaging	Het
Anapc7	G	A	5: 122,428,213 (GRCm38)	A62T	probably damaging	Het
Atp8b3	G	A	10: 80,520,422 (GRCm38)	P1152L	probably benign	Het
Cc2d2a	C	T	5: 43,684,185 (GRCm38)	T181I	possibly damaging	Het
Celsr2	A	G	3: 108,393,239 (GRCm38)	L2835P	probably damaging	Het
Ctns	A	T	11: 73,188,722 (GRCm38)	V99D	possibly damaging	Het
Dchs1	T	C	7: 105,771,927 (GRCm38)	R429G	probably damaging	Het
Ddx11	T	C	17: 66,134,137 (GRCm38)	V218A	probably damaging	Het
Eftud2	G	A	11: 102,865,563 (GRCm38)		probably benign	Het
Erich1	G	T	8: 14,078,853 (GRCm38)	T29N	possibly damaging	Het
Exosc8	T	C	3: 54,729,265 (GRCm38)	E215G	probably damaging	Het
Fam184a	G	T	10: 53,698,949 (GRCm38)	A188E	probably benign	Het
Fign	A	G	2: 63,979,688 (GRCm38)	S413P	probably damaging	Het
Fkbp6	A	G	5: 135,349,696 (GRCm38)	S33P	probably damaging	Het
Glb1	A	G	9: 114,450,677 (GRCm38)		probably benign	Het
H2-Q1	T	C	17: 35,323,461 (GRCm38)		probably benign	Het
Helz2	T	C	2: 181,233,977 (GRCm38)	T1575A	probably damaging	Het
Il18r1	A	G	1: 40,474,730 (GRCm38)	E32G	probably damaging	Het
Ints5	C	T	19: 8,895,487 (GRCm38)	P270L	possibly damaging	Het
Itga7	G	T	10: 128,949,468 (GRCm38)	E847*	probably null	Het
Kcns3	A	C	12: 11,091,643 (GRCm38)	S352A	possibly damaging	Het
Kiz	A	G	2: 146,863,801 (GRCm38)	K94E	probably benign	Het
Myo18b	A	T	5: 112,811,704 (GRCm38)	I1409N	probably damaging	Het
Myo5b	A	G	18: 74,644,090 (GRCm38)	H407R	probably damaging	Het
Nelfa	T	C	5: 33,898,802 (GRCm38)	T506A	probably damaging	Het
Olfr497	T	A	7: 108,423,028 (GRCm38)	Y152*	probably null	Het
Olfr763	A	G	10: 129,011,860 (GRCm38)	T192A	probably damaging	Het
Olfr816	A	G	10: 129,912,245 (GRCm38)	I11T	possibly damaging	Het
Olfr984	A	T	9: 40,101,082 (GRCm38)	M136K	probably damaging	Het
Pclo	A	C	5: 14,676,394 (GRCm38)		probably benign	Het
Pes1	G	A	11: 3,977,979 (GRCm38)	E544K	possibly damaging	Het
Rabgap1l	A	G	1: 160,740,745 (GRCm38)		probably benign	Het
Rapgef2	T	C	3: 79,068,937 (GRCm38)	M1521V	probably benign	Het
Rapgef2	C	T	3: 79,103,962 (GRCm38)		probably null	Het
Reln	A	G	5: 22,040,405 (GRCm38)	V735A	probably benign	Het
Slc2a4	A	G	11: 69,945,076 (GRCm38)	S316P	possibly damaging	Het
Smarce1	C	T	11: 99,210,187 (GRCm38)	G373E	possibly damaging	Het
Spata31d1a	T	A	13: 59,701,559 (GRCm38)	R918S	probably benign	Het
St3gal4	T	C	9: 35,052,331 (GRCm38)	K227R	probably benign	Het
Stra6l	T	A	4: 45,864,864 (GRCm38)		probably null	Het
Stxbp5l	T	C	16: 37,215,979 (GRCm38)	I425V	probably damaging	Het
Tcaf2	T	C	6: 42,630,328 (GRCm38)	T231A	probably benign	Het
Tiparp	G	T	3: 65,552,609 (GRCm38)	G442*	probably null	Het
Tnks	A	G	8: 34,839,982 (GRCm38)	Y1138H	probably damaging	Het
Vezt	T	A	10: 93,996,857 (GRCm38)	I231F	probably damaging	Het
Vmn2r4	A	T	3: 64,406,395 (GRCm38)	N388K	probably damaging	Het
Zbed3	A	G	13: 95,336,634 (GRCm38)	K189E	possibly damaging	Het
Zfp512b	T	C	2: 181,587,785 (GRCm38)	T625A	possibly damaging	Het
Zfp827	A	T	8: 79,060,733 (GRCm38)	Q176L	possibly damaging	Het

Other mutations in Lin7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0539:Lin7b	UTSW	7	45,369,902 (GRCm38)	unclassified	probably benign
R1730:Lin7b	UTSW	7	45,369,927 (GRCm38)	missense	probably benign
R1783:Lin7b	UTSW	7	45,369,927 (GRCm38)	missense	probably benign
R2330:Lin7b	UTSW	7	45,369,913 (GRCm38)	critical splice donor site	probably null
R2920:Lin7b	UTSW	7	45,368,397 (GRCm38)	missense	possibly damaging	0.48
R5646:Lin7b	UTSW	7	45,369,193 (GRCm38)	missense	probably damaging	0.96
R7155:Lin7b	UTSW	7	45,370,227 (GRCm38)	missense	probably damaging	0.99
R7487:Lin7b	UTSW	7	45,369,940 (GRCm38)	missense	possibly damaging	0.81
R7576:Lin7b	UTSW	7	45,369,225 (GRCm38)	nonsense	probably null
R7603:Lin7b	UTSW	7	45,368,432 (GRCm38)	unclassified	probably benign

Posted On

2013-11-11