Mutagenetix > Incidental Mutation

Incidental Mutation 'R8280:Fam43b'

638143

Institutional Source

Beutler Lab

Gene Symbol

Fam43b

Ensembl Gene

ENSMUSG00000078235

Gene Name

family with sequence similarity 43, member B

Synonyms

OTTMUSG00000009974

MMRRC Submission

067703-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.603) question?

Stock #

R8280 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

138121403-138123769 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 138123281 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 13 (E13G)

Ref Sequence

ENSEMBL: ENSMUSP00000100649 (fasta)

Gene Model

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

AlphaFold

A2AM80

Predicted Effect

probably damaging
Transcript: ENSMUST00000105032
AA Change: E13G

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000100649
Gene: ENSMUSG00000078235
AA Change: E13G

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (47/47)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933427D14Rik	A	G	11: 72,086,667 (GRCm39)	V248A	possibly damaging	Het
Alpk2	A	G	18: 65,440,274 (GRCm39)	I373T	probably benign	Het
Anxa1	A	T	19: 20,352,650 (GRCm39)	M308K	possibly damaging	Het
Apob	T	C	12: 8,060,851 (GRCm39)	M3111T	possibly damaging	Het
Cacna1e	T	C	1: 154,344,839 (GRCm39)	D1095G	probably damaging	Het
Cacna2d3	C	T	14: 28,704,328 (GRCm39)	V818I	probably benign	Het
Ces1c	T	A	8: 93,825,809 (GRCm39)	H550L	possibly damaging	Het
Cluap1	A	G	16: 3,729,017 (GRCm39)		probably benign	Het
Cped1	G	T	6: 21,986,820 (GRCm39)	R4L	unknown	Het
Cyb561d1	A	G	3: 108,106,532 (GRCm39)	I229T	probably benign	Het
Cyb561d1	A	G	3: 108,106,713 (GRCm39)	C169R	probably damaging	Het
Dip2a	C	T	10: 76,100,610 (GRCm39)	V1522M	possibly damaging	Het
Diras2	A	G	13: 52,661,863 (GRCm39)	M148T	probably benign	Het
Dnah5	G	T	15: 28,408,538 (GRCm39)	A3508S	probably benign	Het
Farsa	T	G	8: 85,587,808 (GRCm39)	I113S	probably damaging	Het
Fcrl2	G	T	3: 87,166,364 (GRCm39)	S137*	probably null	Het
Fer1l4	T	C	2: 155,891,620 (GRCm39)	D114G	probably damaging	Het
Gm4181	A	T	14: 51,868,015 (GRCm39)	*185R	probably null	Het
Gm5901	G	A	7: 105,027,105 (GRCm39)		probably null	Het
Heatr4	C	A	12: 84,016,670 (GRCm39)	E532D	probably benign	Het
Il10	C	T	1: 130,947,749 (GRCm39)	P34L	possibly damaging	Het
Irag1	T	C	7: 110,522,828 (GRCm39)	E205G	possibly damaging	Het
Lilra6	A	G	7: 3,916,046 (GRCm39)	L271P	probably benign	Het
Mlh1	A	T	9: 111,078,286 (GRCm39)		probably null	Het
Naaa	T	C	5: 92,411,308 (GRCm39)	Y293C	probably damaging	Het
Ndufaf7	G	A	17: 79,251,275 (GRCm39)	G227R	possibly damaging	Het
Nmral1	A	G	16: 4,531,659 (GRCm39)	S199P	probably damaging	Het
Or1o11	T	C	17: 37,756,744 (GRCm39)	F100L	probably benign	Het
Or4c122	A	T	2: 89,079,234 (GRCm39)	I268K	probably damaging	Het
Or4k2	A	C	14: 50,423,723 (GRCm39)	L318*	probably null	Het
Or4x6	C	A	2: 89,949,742 (GRCm39)	V67L	probably benign	Het
Or6b2	T	C	1: 92,407,729 (GRCm39)	I205V	noncoding transcript	Het
Or8b52	T	A	9: 38,576,783 (GRCm39)	Y119F	probably damaging	Het
Or8g21	C	T	9: 38,906,075 (GRCm39)	V219I	probably benign	Het
Paxbp1	G	T	16: 90,831,123 (GRCm39)	H418N	probably benign	Het
Prtg	A	G	9: 72,813,433 (GRCm39)	Y931C	probably damaging	Het
Robo4	T	C	9: 37,315,372 (GRCm39)	S239P	probably benign	Het
Rragd	A	G	4: 32,995,112 (GRCm39)	R76G	probably benign	Het
Samd8	G	A	14: 21,830,219 (GRCm39)	W278*	probably null	Het
Slc22a8	T	A	19: 8,586,627 (GRCm39)	Y379*	probably null	Het
Taar8c	T	A	10: 23,976,835 (GRCm39)	I326F	probably benign	Het
Tmem245	A	T	4: 56,890,884 (GRCm39)	S715T	possibly damaging	Het
Tnnt3	A	G	7: 142,055,359 (GRCm39)	I1M	unknown	Het
Trio	A	G	15: 27,902,996 (GRCm39)	I214T	unknown	Het
Uqcrfs1	A	T	13: 30,729,071 (GRCm39)	S54T	probably benign	Het
Usf3	A	G	16: 44,038,864 (GRCm39)	T1115A	probably benign	Het
Zscan4f	A	T	7: 11,251,599 (GRCm39)	I212F	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
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

Predicted Primers

PCR Primer
(F):5'- AGGGTCAGTTTCATCTTCGTGC -3'
(R):5'- CTCTCACAAGGACTGTCTTCG -3'

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

Posted On

2020-07-28