Mutagenetix > Incidental Mutation

Incidental Mutation 'R8491:Faxc'

657982

Institutional Source

Beutler Lab

Gene Symbol

Faxc

Ensembl Gene

ENSMUSG00000028246

Gene Name

failed axon connections homolog

Synonyms

6230409E13Rik

MMRRC Submission

067933-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.169) question?

Stock #

R8491 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

21931329-21996839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 21993319 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 321 (M321K)

Ref Sequence

ENSEMBL: ENSMUSP00000029908 (fasta)

Gene Model

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

AlphaFold

Q3UMF9

Predicted Effect

probably damaging
Transcript: ENSMUST00000029908
AA Change: M321K

PolyPhen 2 Score 0.969 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: M321K

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (52/52)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aard	A	T	15: 51,903,708 (GRCm39)	I44F	unknown	Het
Agap1	A	G	1: 89,537,294 (GRCm39)	E100G	probably damaging	Het
Aoc3	G	T	11: 101,223,042 (GRCm39)	R426L	probably benign	Het
Aspm	T	G	1: 139,385,433 (GRCm39)	L359R	probably damaging	Het
Atp8b2	A	G	3: 89,865,676 (GRCm39)	S75P	probably damaging	Het
Bcl9l	A	G	9: 44,412,065 (GRCm39)	E17G	probably benign	Het
Casc3	G	T	11: 98,713,977 (GRCm39)	R403L	probably benign	Het
Cdh16	T	C	8: 105,343,681 (GRCm39)	D605G	probably damaging	Het
Cdh2	A	G	18: 16,757,775 (GRCm39)		probably null	Het
Cers5	T	A	15: 99,638,831 (GRCm39)	K161N	probably damaging	Het
Cfap57	C	T	4: 118,472,128 (GRCm39)	V84I	probably benign	Het
Cntnap3	A	T	13: 64,933,157 (GRCm39)	D454E	probably damaging	Het
Cxcl15	T	A	5: 90,943,089 (GRCm39)	C30*	probably null	Het
Cyp4a12a	C	A	4: 115,158,650 (GRCm39)		probably null	Het
Dlc1	A	T	8: 37,052,000 (GRCm39)	I577N	probably benign	Het
Dusp6	C	A	10: 99,102,081 (GRCm39)	R210S	possibly damaging	Het
Fez2	C	A	17: 78,692,200 (GRCm39)	V340L	probably benign	Het
G530012D18Rik	C	G	1: 85,504,935 (GRCm39)	D113E	unknown	Het
Gdnf	A	G	15: 7,864,272 (GRCm39)	I228V	possibly damaging	Het
Gm12258	A	G	11: 58,745,122 (GRCm39)	T18A		Het
Gm5460	T	C	14: 33,761,740 (GRCm39)	L194P	probably damaging	Het
Gm6040	T	G	8: 21,407,135 (GRCm39)	R28S	possibly damaging	Het
Gmps	A	G	3: 63,921,779 (GRCm39)	E594G	probably benign	Het
Hspg2	T	C	4: 137,281,030 (GRCm39)	V3334A	probably benign	Het
Idh3a	T	C	9: 54,506,963 (GRCm39)		probably null	Het
Ins1	A	G	19: 52,252,808 (GRCm39)		probably benign	Het
Mug1	A	T	6: 121,859,688 (GRCm39)	D1229V	probably damaging	Het
Ndufs1	T	C	1: 63,196,384 (GRCm39)	D347G	probably damaging	Het
Or52d3	G	A	7: 104,229,242 (GRCm39)	V130I	probably damaging	Het
Or8k25	A	G	2: 86,244,099 (GRCm39)	I99T	probably benign	Het
Pclo	C	A	5: 14,565,244 (GRCm39)	N3K	unknown	Het
Pigl	A	G	11: 62,364,293 (GRCm39)	R112G	probably null	Het
Prkcq	T	C	2: 11,284,335 (GRCm39)	Y502H	probably damaging	Het
Psg16	T	C	7: 16,824,437 (GRCm39)	Y74H	probably damaging	Het
Psme4	G	A	11: 30,722,161 (GRCm39)	G60D	possibly damaging	Het
Rpp14	A	T	14: 8,083,925 (GRCm38)	Q27L	possibly damaging	Het
Serpini2	A	C	3: 75,159,822 (GRCm39)	C315G	probably damaging	Het
Slitrk3	A	G	3: 72,958,592 (GRCm39)	I60T	possibly damaging	Het
Svil	T	C	18: 5,106,678 (GRCm39)	Y1436H	probably damaging	Het
Tmem245	T	C	4: 56,906,261 (GRCm39)	Q548R	probably benign	Het
Tob1	A	G	11: 94,105,115 (GRCm39)	D217G	probably benign	Het
Trim21	A	C	7: 102,208,689 (GRCm39)	D343E	probably benign	Het
Triobp	C	T	15: 78,878,326 (GRCm39)	H1750Y	possibly damaging	Het
Trmt13	T	C	3: 116,376,228 (GRCm39)	R388G	probably benign	Het
Ubqlnl	A	G	7: 103,798,582 (GRCm39)	V305A	probably benign	Het
Ushbp1	A	G	8: 71,845,041 (GRCm39)	V244A	probably benign	Het
Vdac2	T	A	14: 21,887,838 (GRCm39)	N60K	possibly damaging	Het
Vwa5a	A	G	9: 38,652,476 (GRCm39)	E753G	probably damaging	Het
Washc4	A	G	10: 83,411,987 (GRCm39)	D706G	probably benign	Het
Zbtb5	T	C	4: 44,995,090 (GRCm39)	D98G	probably damaging	Het
Zfp53	A	G	17: 21,729,621 (GRCm39)	I551M	probably benign	Het
Zfp958	G	T	8: 4,676,215 (GRCm39)	R61I	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
R4243:Faxc	UTSW	4	21,982,491 (GRCm39)	missense	probably benign	0.01
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
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'- CTAGCTGAGCCTTGTTTTGGAG -3'
(R):5'- TGGGGTCCTGGAGAAACTGT -3'

Sequencing Primer
(F):5'- CTATGTGAGCAAGTTCCCGAG -3'
(R):5'- GAAACTGTTCTCAGCCCCC -3'

Posted On

2021-01-18