Mutagenetix > Incidental Mutation

Incidental Mutation 'R4639:Fam43b'

350822

Institutional Source

Beutler Lab

Gene Symbol

Fam43b

Ensembl Gene

ENSMUSG00000078235

Gene Name

family with sequence similarity 43, member B

Synonyms

OTTMUSG00000009974

MMRRC Submission

041901-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R4639 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

138121403-138123769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 138123278 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 14 (D14V)

Ref Sequence

ENSEMBL: ENSMUSP00000100649 (fasta)

Gene Model

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

AlphaFold

A2AM80

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000062902

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105032
AA Change: D14V

PolyPhen 2 Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000100649
Gene: ENSMUSG00000078235
AA Change: D14V

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

0.1278

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

97% (37/38)

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts16	G	A	13: 70,927,637 (GRCm39)		probably benign	Het
Atad2b	A	C	12: 5,068,053 (GRCm39)	H1017P	probably damaging	Het
Atp8a1	A	T	5: 67,813,317 (GRCm39)	V943D	probably benign	Het
Babam1	C	T	8: 71,856,951 (GRCm39)	A304V	probably damaging	Het
Cdk5rap2	G	T	4: 70,220,413 (GRCm39)	A584D	probably damaging	Het
Ddx21	A	T	10: 62,427,616 (GRCm39)	L429*	probably null	Het
Dsp	T	C	13: 38,380,760 (GRCm39)	Y2502H	probably damaging	Het
Eaf1	G	A	14: 31,226,333 (GRCm39)	D206N	probably benign	Het
Fanca	T	A	8: 124,044,889 (GRCm39)	K34I	probably damaging	Het
Fzd4	T	C	7: 89,056,525 (GRCm39)	Y191H	probably benign	Het
Gas2l3	CACTCGTCATACT	CACT	10: 89,266,820 (GRCm39)		probably benign	Het
Gm10479	A	G	12: 20,483,343 (GRCm39)	T55A	probably damaging	Het
Gsr	T	G	8: 34,187,284 (GRCm39)	I488M	probably damaging	Het
Mrs2	A	G	13: 25,185,767 (GRCm39)	I135T	probably damaging	Het
Myh13	T	C	11: 67,232,377 (GRCm39)	M517T	possibly damaging	Het
Naip1	C	G	13: 100,580,791 (GRCm39)	G152A	probably benign	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nat10	G	A	2: 103,565,234 (GRCm39)	T449I	probably benign	Het
Nin	A	G	12: 70,085,375 (GRCm39)	S1619P	probably damaging	Het
Or14c45	G	A	7: 86,175,969 (GRCm39)	M1I	probably null	Het
Or5m9b	A	G	2: 85,905,923 (GRCm39)	I280V	probably benign	Het
Pcdh15	A	G	10: 74,479,439 (GRCm39)	T448A	probably benign	Het
Pcolce2	A	G	9: 95,519,930 (GRCm39)		probably null	Het
Pnp	C	T	14: 51,188,380 (GRCm39)	R207*	probably null	Het
Ppl	A	G	16: 4,907,310 (GRCm39)	V995A	probably damaging	Het
Ppp2r2a	G	A	14: 67,276,406 (GRCm39)	T33I	probably damaging	Het
Pramel20	C	T	4: 143,298,467 (GRCm39)	R137C	probably benign	Het
Pyroxd1	C	G	6: 142,300,467 (GRCm39)	S199*	probably null	Het
Rgs16	G	T	1: 153,617,781 (GRCm39)	C97F	probably damaging	Het
Sacs	T	A	14: 61,444,717 (GRCm39)	D2254E	probably benign	Het
Slc6a17	T	C	3: 107,381,597 (GRCm39)	M495V	probably benign	Het
Svep1	T	C	4: 58,082,724 (GRCm39)	I1967V	probably benign	Het
Sympk	G	T	7: 18,777,385 (GRCm39)	R545L	possibly damaging	Het
Tcp11l2	A	G	10: 84,420,800 (GRCm39)	D13G	probably damaging	Het
Vmn1r167	T	C	7: 23,205,011 (GRCm39)	I2V	probably benign	Het
Vwa5a	T	C	9: 38,638,410 (GRCm39)		probably null	Het
Wdr95	T	C	5: 149,505,279 (GRCm39)		probably benign	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
R4868:Fam43b	UTSW	4	138,123,108 (GRCm39)	missense	probably benign	0.32
R5129:Fam43b	UTSW	4	138,122,783 (GRCm39)	nonsense	probably null
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'- GGTCAGTTTCATCTTCGTGC -3'
(R):5'- TCACAAGGACTGTCTTCGGC -3'

Sequencing Primer
(F):5'- TTGCCCAGGTACCACACG -3'
(R):5'- TTTGGCCTTTCCAGGAC -3'

Posted On

2015-10-08