Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02193:Faxc'

283972

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Faxc

Ensembl Gene

ENSMUSG00000028246

Gene Name

failed axon connections homolog

Synonyms

6230409E13Rik

Accession Numbers

Essential gene?

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

Stock #

IGL02193

Quality Score

Status

Chromosome

Chromosomal Location

21931329-21996839 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 21993486 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 377 (N377D)

Ref Sequence

ENSEMBL: ENSMUSP00000029908 (fasta)

Gene Model

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

AlphaFold

Q3UMF9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000029908
AA Change: N377D

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000029908
Gene: ENSMUSG00000028246
AA Change: N377D

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

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agl	A	G	3: 116,572,815 (GRCm39)	L812P	probably damaging	Het
Ankmy1	A	T	1: 92,808,767 (GRCm39)	F714I	probably benign	Het
Armh3	G	T	19: 45,961,323 (GRCm39)	T118K	probably benign	Het
Celf5	A	G	10: 81,306,507 (GRCm39)	I52T	probably damaging	Het
Clstn1	T	C	4: 149,729,809 (GRCm39)	V771A	probably benign	Het
Enpep	G	T	3: 129,075,336 (GRCm39)	L661I	possibly damaging	Het
Gabrb3	A	G	7: 57,442,264 (GRCm39)	E190G	probably damaging	Het
Gm4787	C	T	12: 81,425,302 (GRCm39)	M285I	probably benign	Het
Gm5900	A	C	7: 104,599,231 (GRCm39)		noncoding transcript	Het
Gm6133	A	G	18: 78,393,308 (GRCm39)	N101D	probably benign	Het
Gtse1	A	G	15: 85,746,531 (GRCm39)	K116E	probably benign	Het
H2-D1	T	G	17: 35,484,785 (GRCm39)	H215Q	possibly damaging	Het
Hdc	A	T	2: 126,443,700 (GRCm39)		probably benign	Het
Hnrnph3	T	C	10: 62,853,056 (GRCm39)	H195R	probably damaging	Het
Ipo8	T	C	6: 148,678,782 (GRCm39)	T939A	probably damaging	Het
Irag1	A	T	7: 110,498,162 (GRCm39)	L411Q	probably damaging	Het
Krt79	G	T	15: 101,848,340 (GRCm39)	P104T	possibly damaging	Het
Lama4	A	T	10: 38,918,670 (GRCm39)	M384L	probably benign	Het
Lamb2	T	G	9: 108,366,559 (GRCm39)	D1590E	probably benign	Het
Ly6i	A	T	15: 74,854,879 (GRCm39)	C10*	probably null	Het
Mamdc4	G	A	2: 25,454,458 (GRCm39)	A1082V	probably benign	Het
Nlrp4a	T	A	7: 26,159,117 (GRCm39)	L799H	probably damaging	Het
Nlrp4a	G	T	7: 26,148,703 (GRCm39)	K103N	possibly damaging	Het
Or2y13	C	T	11: 49,414,571 (GRCm39)	T7I	possibly damaging	Het
Or5al6	A	T	2: 85,977,059 (GRCm39)	N6K	probably benign	Het
Or6b1	T	C	6: 42,815,753 (GRCm39)		probably benign	Het
Otud6b	T	C	4: 14,812,543 (GRCm39)	H268R	probably damaging	Het
Peg3	T	C	7: 6,714,927 (GRCm39)	E138G	probably damaging	Het
Phactr1	T	C	13: 42,863,176 (GRCm39)		probably benign	Het
Psmf1	A	G	2: 151,562,733 (GRCm39)		probably benign	Het
Rab32	T	C	10: 10,422,199 (GRCm39)		probably benign	Het
Rfwd3	C	T	8: 111,999,647 (GRCm39)		probably benign	Het
Scart2	A	G	7: 139,828,913 (GRCm39)	T191A	probably benign	Het
Slc25a3	A	G	10: 90,953,977 (GRCm39)	V245A	probably benign	Het
Srrm1	G	A	4: 135,052,415 (GRCm39)	P658L	unknown	Het
Thoc1	A	G	18: 9,992,863 (GRCm39)	D545G	probably benign	Het
Tpst1	T	A	5: 130,130,737 (GRCm39)	M69K	possibly damaging	Het
Trank1	T	C	9: 111,196,344 (GRCm39)	V1456A	probably benign	Het
Trappc6a	T	A	7: 19,249,144 (GRCm39)	C124S	possibly damaging	Het
Tsc22d2	T	A	3: 58,367,628 (GRCm39)		probably benign	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
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
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

Posted On

2015-04-16