Mutagenetix > Incidental Mutation

Incidental Mutation 'R4243:Faxc'

320287

Institutional Source

Beutler Lab

Gene Symbol

Faxc

Ensembl Gene

ENSMUSG00000028246

Gene Name

failed axon connections homolog

Synonyms

6230409E13Rik

MMRRC Submission

041643-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.175) question?

Stock #

R4243 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

21931329-21996839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 21982491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 310 (R310Q)

Ref Sequence

ENSEMBL: ENSMUSP00000029908 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029908]

AlphaFold

Q3UMF9

Predicted Effect

probably benign
Transcript: ENSMUST00000029908
AA Change: R310Q

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: R310Q

Domain	Start	End	E-Value	Type
low complexity region	66	82	N/A	INTRINSIC
SCOP:d1k0ma2	93	172	1e-3	SMART
Pfam:GST_C_3	197	328	1.5e-34	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123481

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124440

Meta Mutation Damage Score

0.0691

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.0%

Validation Efficiency

100% (50/50)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1500011B03Rik	C	A	5: 114,951,855 (GRCm39)	R40L	possibly damaging	Het
4930449A18Rik	T	A	3: 59,733,203 (GRCm39)		noncoding transcript	Het
4930578I06Rik	C	T	14: 64,210,658 (GRCm39)	R190H	probably benign	Het
4933409G03Rik	C	T	2: 68,423,887 (GRCm39)		probably benign	Het
Actr1b	T	C	1: 36,740,911 (GRCm39)	Y171C	possibly damaging	Het
Birc2	T	C	9: 7,834,386 (GRCm39)	T32A	probably benign	Het
Cdh13	T	A	8: 119,968,996 (GRCm39)	V451E	probably damaging	Het
Cdh20	C	T	1: 104,869,868 (GRCm39)	T196I	probably damaging	Het
Cdt1	A	G	8: 123,298,157 (GRCm39)	M383V	probably benign	Het
Chrna9	T	C	5: 66,092,379 (GRCm39)		probably null	Het
Cpne9	C	T	6: 113,259,984 (GRCm39)		probably benign	Het
Cspg4	T	C	9: 56,795,141 (GRCm39)	S959P	probably benign	Het
Ctbp2	A	G	7: 132,600,583 (GRCm39)	I647T	probably benign	Het
Cyld	A	T	8: 89,457,383 (GRCm39)	R536*	probably null	Het
Ddx1	A	T	12: 13,290,910 (GRCm39)	C68*	probably null	Het
Dock10	T	A	1: 80,544,472 (GRCm39)	E905V	probably benign	Het
Dynlt1b	T	C	17: 6,697,639 (GRCm39)		probably null	Het
Fhdc1	C	A	3: 84,352,133 (GRCm39)	V1031F	probably benign	Het
Frmd5	C	A	2: 121,393,363 (GRCm39)		probably null	Het
Gm5174	C	A	10: 86,492,144 (GRCm39)		noncoding transcript	Het
Hspa12b	C	T	2: 130,983,778 (GRCm39)	H293Y	possibly damaging	Het
Jakmip2	A	G	18: 43,710,501 (GRCm39)	V234A	probably benign	Het
Jkamp	G	A	12: 72,140,799 (GRCm39)	V108I	probably benign	Het
Mettl23	T	C	11: 116,739,126 (GRCm39)	V72A	possibly damaging	Het
Morc2b	T	A	17: 33,355,375 (GRCm39)	Y799F	probably benign	Het
Mtmr11	T	A	3: 96,075,393 (GRCm39)	C358S	probably damaging	Het
Myo18b	G	A	5: 112,840,261 (GRCm39)	H2511Y	possibly damaging	Het
Mysm1	A	G	4: 94,857,248 (GRCm39)	V120A	probably benign	Het
Nhlrc1	C	T	13: 47,167,502 (GRCm39)	V252I	probably benign	Het
Or12j3	G	A	7: 139,952,857 (GRCm39)	A222V	probably benign	Het
Or2ak6	T	G	11: 58,593,277 (GRCm39)	L250R	probably damaging	Het
Or7g35	C	A	9: 19,495,854 (GRCm39)	T7K	probably damaging	Het
Pard3	G	A	8: 128,098,128 (GRCm39)	A390T	probably benign	Het
Pcdhga1	T	A	18: 37,796,605 (GRCm39)	D536E	probably damaging	Het
Phactr3	G	A	2: 177,924,982 (GRCm39)		probably null	Het
Pkn2	T	C	3: 142,526,339 (GRCm39)	N413D	possibly damaging	Het
Ppp1r12b	T	G	1: 134,709,846 (GRCm39)		probably benign	Het
Ptprf	A	G	4: 118,083,649 (GRCm39)		probably null	Het
Rab3gap1	T	C	1: 127,865,304 (GRCm39)		probably null	Het
Rasa1	A	G	13: 85,392,314 (GRCm39)	Y407H	probably damaging	Het
Rfx7	A	G	9: 72,499,051 (GRCm39)	T72A	possibly damaging	Het
Slc27a1	A	G	8: 72,037,617 (GRCm39)	T535A	probably benign	Het
Stra6	G	A	9: 58,050,309 (GRCm39)	A237T	probably benign	Het
Tor1aip2	A	G	1: 155,941,182 (GRCm39)	E496G	probably damaging	Het
Usp47	A	G	7: 111,707,836 (GRCm39)	D1294G	probably damaging	Het
Utp20	A	G	10: 88,643,187 (GRCm39)		probably null	Het
Vmn1r79	T	A	7: 11,910,971 (GRCm39)	C284*	probably null	Het
Zar1	T	C	5: 72,737,736 (GRCm39)	E121G	possibly damaging	Het
Zbtb40	C	T	4: 136,745,860 (GRCm39)	A58T	probably benign	Het
Zfhx3	A	G	8: 109,518,952 (GRCm39)	T25A	probably damaging	Het

Other mutations in Faxc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Faxc	APN	4	21,948,725 (GRCm39)	missense	probably damaging	1.00
IGL00418:Faxc	APN	4	21,958,490 (GRCm39)	missense	possibly damaging	0.55
IGL01714:Faxc	APN	4	21,936,688 (GRCm39)	missense	probably damaging	1.00
IGL02193:Faxc	APN	4	21,993,486 (GRCm39)	missense	possibly damaging	0.69
IGL02290:Faxc	APN	4	21,993,390 (GRCm39)	missense	possibly damaging	0.73
IGL03271:Faxc	APN	4	21,948,757 (GRCm39)	missense	possibly damaging	0.74
R0131:Faxc	UTSW	4	21,936,659 (GRCm39)	missense	probably damaging	1.00
R0409:Faxc	UTSW	4	21,948,751 (GRCm39)	missense	probably benign	0.00
R0615:Faxc	UTSW	4	21,958,608 (GRCm39)	missense	probably benign	0.01
R1973:Faxc	UTSW	4	21,993,405 (GRCm39)	missense	probably benign	0.35
R2027:Faxc	UTSW	4	21,958,439 (GRCm39)	splice site	probably benign
R2181:Faxc	UTSW	4	21,931,591 (GRCm39)	missense	probably benign	0.02
R4845:Faxc	UTSW	4	21,993,358 (GRCm39)	missense	probably damaging	1.00
R5260:Faxc	UTSW	4	21,948,744 (GRCm39)	missense	probably damaging	1.00
R5306:Faxc	UTSW	4	21,931,557 (GRCm39)	utr 5 prime	probably benign
R6187:Faxc	UTSW	4	21,958,445 (GRCm39)	missense	possibly damaging	0.52
R6237:Faxc	UTSW	4	21,993,376 (GRCm39)	missense	possibly damaging	0.95
R6721:Faxc	UTSW	4	21,982,672 (GRCm39)	splice site	probably null
R6825:Faxc	UTSW	4	21,931,672 (GRCm39)	missense	probably benign	0.00
R7841:Faxc	UTSW	4	21,958,584 (GRCm39)	missense	probably benign	0.12
R8351:Faxc	UTSW	4	21,932,046 (GRCm39)	splice site	probably null
R8491:Faxc	UTSW	4	21,993,319 (GRCm39)	missense	probably damaging	0.97
R8905:Faxc	UTSW	4	21,982,398 (GRCm39)	missense	probably damaging	1.00
R9715:Faxc	UTSW	4	21,993,307 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGTAGTGAGGATGCGCTTAG -3'
(R):5'- CTGGCTTTGGAACAGTCCTAG -3'

Sequencing Primer
(F):5'- CTTAGACAGTGTGGGTCATCC -3'
(R):5'- TGGAACAGTCCTAGATTATCCAGGC -3'

Posted On

2015-06-12