Mutagenetix > Incidental Mutation

Incidental Mutation 'R7603:Lin7b'

628338

Institutional Source

Beutler Lab

Gene Symbol

Lin7b

Ensembl Gene

ENSMUSG00000003872

Gene Name

lin-7 homolog B, crumbs cell polarity complex component

Synonyms

Veli2, LIN-7B, MALS-2

MMRRC Submission

045713-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.572) question?

Stock #

R7603 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

45017315-45019988 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

T to C at 45017856 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148200 (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

silent
Transcript: ENSMUST00000003971

SMART Domains

Protein: ENSMUSP00000003971
Gene: ENSMUSG00000003872

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

unknown
Transcript: ENSMUST00000210865
AA Change: N51S

Predicted Effect

probably benign
Transcript: ENSMUST00000211067

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (47/48)

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: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	T	C	11: 110,071,084 (GRCm39)	K1536E	possibly damaging	Het
Abhd16a	T	A	17: 35,320,936 (GRCm39)		probably null	Het
Actrt3	C	T	3: 30,652,696 (GRCm39)	A133T	probably benign	Het
Adcy10	C	T	1: 165,391,806 (GRCm39)	R1329W	probably damaging	Het
Apol7b	T	C	15: 77,307,656 (GRCm39)	M280V	possibly damaging	Het
Canx	A	T	11: 50,202,455 (GRCm39)	D50E	probably benign	Het
Csmd1	A	T	8: 16,338,696 (GRCm39)	D470E	probably damaging	Het
Cyp2c23	C	T	19: 44,003,369 (GRCm39)	D269N	probably damaging	Het
Ddah1	T	C	3: 145,464,774 (GRCm39)	V53A	probably benign	Het
Epha7	C	T	4: 28,871,937 (GRCm39)	S422L	probably benign	Het
Fastkd5	A	G	2: 130,456,961 (GRCm39)	V543A	possibly damaging	Het
Fggy	G	A	4: 95,657,743 (GRCm39)	G295R	probably damaging	Het
Frs2	T	C	10: 116,909,968 (GRCm39)	T465A	probably benign	Het
Glipr1	A	T	10: 111,824,737 (GRCm39)	N156K	probably benign	Het
Gnpnat1	C	T	14: 45,622,074 (GRCm39)	V40I	probably benign	Het
H2-Q7	T	C	17: 35,658,939 (GRCm39)	L130P	probably damaging	Het
Herc1	T	A	9: 66,358,665 (GRCm39)	L86*	probably null	Het
Hspg2	T	C	4: 137,275,679 (GRCm39)	L2778P	probably damaging	Het
Hspg2	T	A	4: 137,284,503 (GRCm39)	I3487N	possibly damaging	Het
Htra4	T	G	8: 25,515,716 (GRCm39)	I441L	probably benign	Het
Ints7	A	T	1: 191,328,336 (GRCm39)	H203L	probably damaging	Het
Lama2	T	C	10: 27,142,676 (GRCm39)	T601A	possibly damaging	Het
Lmbr1l	G	A	15: 98,806,572 (GRCm39)	Q280*	probably null	Het
Lpin3	G	T	2: 160,745,674 (GRCm39)		probably null	Het
Map1lc3b	A	T	8: 122,320,268 (GRCm39)	H27L	possibly damaging	Het
Mfsd14a	C	A	3: 116,427,532 (GRCm39)	V369F	probably damaging	Het
Ndufa12	C	T	10: 94,056,641 (GRCm39)	A123V	probably benign	Het
Nek9	A	G	12: 85,350,288 (GRCm39)	F929L	probably benign	Het
Nup210	A	T	6: 91,053,679 (GRCm39)	D279E	probably benign	Het
Or52m2	A	G	7: 102,264,145 (GRCm39)	V17A	probably benign	Het
Parp1	T	C	1: 180,427,777 (GRCm39)		probably null	Het
Phc3	T	C	3: 30,961,601 (GRCm39)	I944V	probably damaging	Het
Phf20	C	T	2: 156,144,771 (GRCm39)	A793V	probably benign	Het
Phf21a	A	C	2: 92,187,352 (GRCm39)	R540S	probably benign	Het
Pogk	A	G	1: 166,229,480 (GRCm39)	C124R	probably benign	Het
Rif1	C	T	2: 51,966,187 (GRCm39)	S93L	probably damaging	Het
Sanbr	T	C	11: 23,516,191 (GRCm39)	T709A	probably benign	Het
Sele	A	G	1: 163,877,084 (GRCm39)	E120G	probably damaging	Het
Slc4a1ap	T	C	5: 31,703,539 (GRCm39)	L49P		Het
Snap47	T	C	11: 59,319,373 (GRCm39)	D255G	probably damaging	Het
Tcstv3	T	C	13: 120,779,146 (GRCm39)	V15A	probably damaging	Het
Tmcc1	A	T	6: 116,020,092 (GRCm39)	Y453*	probably null	Het
Tpsg1	G	T	17: 25,592,184 (GRCm39)	G86V	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Usp20	T	A	2: 30,901,486 (GRCm39)	V459E	probably damaging	Het
Vmn1r202	A	T	13: 22,685,790 (GRCm39)	L209Q	probably damaging	Het
Vps13b	T	C	15: 35,576,585 (GRCm39)	S998P	probably damaging	Het

Other mutations in Lin7b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01448:Lin7b	APN	7	45,018,624 (GRCm39)	missense	probably damaging	1.00
R0539:Lin7b	UTSW	7	45,019,326 (GRCm39)	unclassified	probably benign
R1730:Lin7b	UTSW	7	45,019,351 (GRCm39)	missense	probably benign
R1783:Lin7b	UTSW	7	45,019,351 (GRCm39)	missense	probably benign
R2330:Lin7b	UTSW	7	45,019,337 (GRCm39)	critical splice donor site	probably null
R2920:Lin7b	UTSW	7	45,017,821 (GRCm39)	missense	possibly damaging	0.48
R5646:Lin7b	UTSW	7	45,018,617 (GRCm39)	missense	probably damaging	0.96
R7155:Lin7b	UTSW	7	45,019,651 (GRCm39)	missense	probably damaging	0.99
R7487:Lin7b	UTSW	7	45,019,364 (GRCm39)	missense	possibly damaging	0.81
R7576:Lin7b	UTSW	7	45,018,649 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- AAATGTTGAAGGCCGCTGTG -3'
(R):5'- TGTGCCTAAAGTTGGTGATCCAC -3'

Sequencing Primer
(F):5'- CACTGGCCTGATTTGGGTATCTAAG -3'
(R):5'- TGCCTAAAGTTGGTGATCCACTAGAG -3'

Posted On

2020-03-09