Mutagenetix > Incidental Mutation

Incidental Mutation 'R5129:Fam43b'

453543

Institutional Source

Beutler Lab

Gene Symbol

Fam43b

Ensembl Gene

ENSMUSG00000078235

Gene Name

family with sequence similarity 43, member B

Synonyms

OTTMUSG00000009974

MMRRC Submission

042717-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R5129 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

138121403-138123769 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 138122783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 179 (L179*)

Ref Sequence

ENSEMBL: ENSMUSP00000100649 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105032]

AlphaFold

A2AM80

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000062902

Predicted Effect

probably null
Transcript: ENSMUST00000105032
AA Change: L179*

SMART Domains

Protein: ENSMUSP00000100649
Gene: ENSMUSG00000078235
AA Change: L179*

Domain	Start	End	E-Value	Type
Pfam:PID_2	71	265	3.4e-75	PFAM
low complexity region	306	315	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (51/52)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	G	7: 29,260,786 (GRCm39)		noncoding transcript	Het
Abcf1	C	T	17: 36,271,687 (GRCm39)		probably benign	Het
Adamts14	T	A	10: 61,085,397 (GRCm39)	D209V	probably benign	Het
Aldh3b1	A	G	19: 3,965,336 (GRCm39)	F392L	probably benign	Het
Atp1a2	A	T	1: 172,103,522 (GRCm39)	D999E	probably benign	Het
Capn7	T	C	14: 31,066,468 (GRCm39)	V94A	probably damaging	Het
Cdh13	A	G	8: 119,821,954 (GRCm39)	D271G	probably damaging	Het
Cntnap5b	G	A	1: 100,306,815 (GRCm39)	G844D	probably damaging	Het
Col6a4	T	C	9: 105,890,576 (GRCm39)	E1906G	probably damaging	Het
Daw1	T	C	1: 83,183,624 (GRCm39)	Y225H	probably damaging	Het
Dvl3	T	A	16: 20,336,090 (GRCm39)	M49K	possibly damaging	Het
Eef1b2	T	G	1: 63,218,739 (GRCm39)	S175A	probably damaging	Het
Epb41l1	A	T	2: 156,351,201 (GRCm39)	Y425F	possibly damaging	Het
Fbxw28	A	G	9: 109,155,671 (GRCm39)	L314P	probably damaging	Het
Fstl4	C	A	11: 53,077,266 (GRCm39)	D674E	probably damaging	Het
G3bp1	T	C	11: 55,379,942 (GRCm39)	V92A	possibly damaging	Het
Gm3604	A	T	13: 62,517,588 (GRCm39)	Y257N	probably benign	Het
Gm5900	A	G	7: 104,599,223 (GRCm39)		noncoding transcript	Het
Hectd4	G	A	5: 121,481,573 (GRCm39)	V3041M	possibly damaging	Het
Hivep2	A	G	10: 14,006,608 (GRCm39)	K1069E	probably damaging	Het
Hlf	T	C	11: 90,281,078 (GRCm39)	D38G	probably benign	Het
Hsd3b7	C	A	7: 127,400,306 (GRCm39)	C18*	probably null	Het
Kdm5a	T	C	6: 120,381,983 (GRCm39)	C676R	probably damaging	Het
Klhdc7b	A	G	15: 89,272,751 (GRCm39)	Y1211C	probably damaging	Het
Krt78	C	A	15: 101,856,015 (GRCm39)	V599L	possibly damaging	Het
Mroh9	C	G	1: 162,888,329 (GRCm39)	G249R	probably damaging	Het
Nbas	T	C	12: 13,440,961 (GRCm39)	L1097P	probably damaging	Het
Nf2	A	C	11: 4,766,145 (GRCm39)	D87E	probably benign	Het
Or10d4c	T	A	9: 39,558,790 (GRCm39)	I256N	probably benign	Het
Or14j2	T	C	17: 37,886,071 (GRCm39)	Y81C	probably damaging	Het
Ppil3	A	G	1: 58,479,992 (GRCm39)		probably benign	Het
Prrc2a	T	C	17: 35,379,154 (GRCm39)	E276G	unknown	Het
Semp2l1	C	A	1: 32,584,560 (GRCm39)	R450M	probably damaging	Het
Semp2l1	T	A	1: 32,584,561 (GRCm39)	R450W	probably damaging	Het
Spata16	A	G	3: 26,721,713 (GRCm39)	E78G	probably damaging	Het
Tlr3	A	T	8: 45,856,018 (GRCm39)	I54K	probably damaging	Het
Tmem72	A	G	6: 116,678,974 (GRCm39)	L34P	probably damaging	Het
Triobp	A	G	15: 78,845,296 (GRCm39)	R213G	probably benign	Het
Tyrp1	T	A	4: 80,764,844 (GRCm39)	V7D	probably damaging	Het
Uhrf2	A	G	19: 30,052,621 (GRCm39)	I372V	probably benign	Het
Uty	T	C	Y: 1,158,592 (GRCm39)	T484A	probably benign	Het
Vcan	T	C	13: 89,838,359 (GRCm39)	D2395G	probably damaging	Het
Vmn1r225	T	A	17: 20,723,378 (GRCm39)	I273N	probably damaging	Het
Zfp451	C	T	1: 33,842,014 (GRCm39)		probably benign	Het
Zfp457	T	C	13: 67,441,420 (GRCm39)	E385G	probably benign	Het
Zfp74	C	T	7: 29,631,880 (GRCm39)	M121I	probably benign	Het
Zfp866	A	T	8: 70,220,359 (GRCm39)		probably null	Het
Zfp874a	A	T	13: 67,591,100 (GRCm39)	C195S	probably damaging	Het

Other mutations in Fam43b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R2128:Fam43b	UTSW	4	138,123,299 (GRCm39)	missense	possibly damaging	0.87
R2258:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R2281:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R2413:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R2416:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R2417:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3705:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3715:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3797:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3798:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3854:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R3856:Fam43b	UTSW	4	138,122,409 (GRCm39)	missense	probably benign	0.25
R4639:Fam43b	UTSW	4	138,123,278 (GRCm39)	missense	possibly damaging	0.66
R4868:Fam43b	UTSW	4	138,123,108 (GRCm39)	missense	probably benign	0.32
R6176:Fam43b	UTSW	4	138,122,522 (GRCm39)	missense	probably damaging	0.99
R7296:Fam43b	UTSW	4	138,123,152 (GRCm39)	missense	probably damaging	1.00
R8280:Fam43b	UTSW	4	138,123,281 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- ATTGAACTCCAGGTCAGTCTC -3'
(R):5'- CGAAGATGAAACTGACCCTGG -3'

Sequencing Primer
(F):5'- TCCTCCTGGATGCTGCTGAG -3'
(R):5'- ATCCGCATGCAGCCGAG -3'

Posted On

2017-02-10