Mutagenetix > Incidental Mutation

Incidental Mutation 'R3856:Fam43b'

359696

Institutional Source

Beutler Lab

Gene Symbol

Fam43b

Ensembl Gene

ENSMUSG00000078235

Gene Name

family with sequence similarity 43, member B

Synonyms

OTTMUSG00000009974

MMRRC Submission

040902-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R3856 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

138121403-138123769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 138122409 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 304 (R304G)

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 benign
Transcript: ENSMUST00000105032
AA Change: R304G

PolyPhen 2 Score 0.246 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000100649
Gene: ENSMUSG00000078235
AA Change: R304G

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

0.0639

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.7%
20x: 92.4%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acod1	T	C	14: 103,292,882 (GRCm39)	S469P	possibly damaging	Het
Adgrf5	A	T	17: 43,757,927 (GRCm39)	N787I	possibly damaging	Het
Ank2	T	C	3: 126,723,493 (GRCm39)	T945A	probably benign	Het
Aox4	T	A	1: 58,293,093 (GRCm39)	I863N	probably damaging	Het
Ap3d1	A	G	10: 80,548,019 (GRCm39)	I891T	probably benign	Het
Apex1	A	G	14: 51,163,714 (GRCm39)	T109A	probably benign	Het
Arhgef1	G	A	7: 24,618,697 (GRCm39)	G107S	probably damaging	Het
Atxn7l1	A	G	12: 33,417,599 (GRCm39)	T587A	probably damaging	Het
Atxn7l3	T	C	11: 102,184,729 (GRCm39)	D128G	probably damaging	Het
Cacna1h	T	C	17: 25,611,427 (GRCm39)	Y457C	probably damaging	Het
Ccdc60	A	C	5: 116,310,514 (GRCm39)	C183G	probably damaging	Het
Cep131	G	A	11: 119,958,011 (GRCm39)	R772*	probably null	Het
Cnst	C	T	1: 179,407,279 (GRCm39)	P109S	probably benign	Het
Crtc2	G	T	3: 90,169,877 (GRCm39)	L509F	probably damaging	Het
Ctsr	A	T	13: 61,309,750 (GRCm39)	I153N	possibly damaging	Het
Dffa	A	T	4: 149,188,708 (GRCm39)	M1L	possibly damaging	Het
Dnajc16	G	A	4: 141,490,964 (GRCm39)	R729*	probably null	Het
Eef2k	T	A	7: 120,498,594 (GRCm39)	C91*	probably null	Het
Eml5	T	C	12: 98,782,283 (GRCm39)	D1336G	probably damaging	Het
F12	G	A	13: 55,569,035 (GRCm39)		probably null	Het
Fbxo40	A	T	16: 36,789,445 (GRCm39)	L555Q	probably damaging	Het
Frmpd1	T	C	4: 45,283,698 (GRCm39)	S840P	probably damaging	Het
Gadd45a	C	T	6: 67,013,989 (GRCm39)		probably null	Het
Galnt7	T	C	8: 57,985,658 (GRCm39)		probably benign	Het
Gm5592	G	A	7: 40,807,259 (GRCm39)		probably benign	Het
Gpr171	T	C	3: 59,005,506 (GRCm39)	T90A	probably damaging	Het
Gpr82	A	T	X: 13,531,577 (GRCm39)	T42S	probably benign	Het
H2-M10.6	T	A	17: 37,123,396 (GRCm39)	I30N	probably benign	Het
Hk2	T	C	6: 82,713,657 (GRCm39)	E447G	possibly damaging	Het
Hspa4l	C	A	3: 40,739,821 (GRCm39)	H698Q	probably benign	Het
Idi1	G	T	13: 8,935,968 (GRCm39)	A25S	probably benign	Het
Kdm4a	C	T	4: 118,010,428 (GRCm39)	R605H	probably damaging	Het
Nhlrc2	T	C	19: 56,576,703 (GRCm39)		probably null	Het
Nt5c2	A	G	19: 46,884,957 (GRCm39)	V252A	probably damaging	Het
Or52ae7	T	A	7: 103,119,867 (GRCm39)	V207E	probably damaging	Het
Pbp2	A	G	6: 135,287,143 (GRCm39)	L68P	probably benign	Het
Pcnx3	G	T	19: 5,728,995 (GRCm39)	T547K	probably benign	Het
Ppp1r12a	T	C	10: 108,089,362 (GRCm39)		probably benign	Het
Prmt9	G	A	8: 78,294,894 (GRCm39)	V413I	probably benign	Het
Pudp	T	C	18: 50,701,124 (GRCm39)	N203S	probably benign	Het
Rnf213	T	C	11: 119,371,765 (GRCm39)		probably benign	Het
Sall3	G	A	18: 81,015,717 (GRCm39)	T737M	probably damaging	Het
Scn2b	A	G	9: 45,036,759 (GRCm39)	N89S	possibly damaging	Het
Sgsm1	A	G	5: 113,411,125 (GRCm39)	V580A	probably benign	Het
Slc13a4	C	A	6: 35,248,539 (GRCm39)		probably null	Het
Slc4a4	A	C	5: 89,380,698 (GRCm39)	S1015R	probably benign	Het
Slc8a1	T	C	17: 81,955,803 (GRCm39)	T412A	probably benign	Het
Spag17	A	T	3: 100,014,075 (GRCm39)	D2116V	probably damaging	Het
Trim55	T	C	3: 19,727,120 (GRCm39)	F396L	probably benign	Het
Usp54	C	A	14: 20,638,488 (GRCm39)	M197I	probably damaging	Het
Vmn1r189	A	T	13: 22,286,439 (GRCm39)	F133I	possibly damaging	Het
Zfp735	T	C	11: 73,602,282 (GRCm39)	S409P	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
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
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'- AGGCGACCATTACAGTGAC -3'
(R):5'- AGTCTTCACCTGGGTCTACC -3'

Sequencing Primer
(F):5'- GACCATTACAGTGACCGCGAG -3'
(R):5'- TTCAGCGACTTCAAGCGG -3'

Posted On

2015-11-30