Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03351:Faap24'

419708

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Faap24

Ensembl Gene

ENSMUSG00000030493

Gene Name

Fanconi anemia core complex associated protein 24

Synonyms

C230052I12Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.203) question?

Stock #

IGL03351

Quality Score

Status

Chromosome

Chromosomal Location

35091577-35096192 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 35094734 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 58 (C58*)

Ref Sequence

ENSEMBL: ENSMUSP00000115766 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032704] [ENSMUST00000032705] [ENSMUST00000079414] [ENSMUST00000085556] [ENSMUST00000154597] [ENSMUST00000206854] [ENSMUST00000141704]

AlphaFold

Q8BHL6

Predicted Effect

probably null
Transcript: ENSMUST00000032704
AA Change: C58*

SMART Domains

Protein: ENSMUSP00000032704
Gene: ENSMUSG00000030493
AA Change: C58*

Domain	Start	End	E-Value	Type
Pfam:HHH_2	162	219	1.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000032705

SMART Domains

Protein: ENSMUSP00000032705
Gene: ENSMUSG00000030494

Domain	Start	End	E-Value	Type
Hr1	38	101	2.42e-12	SMART
BRO1	111	513	1.27e-167	SMART
PDZ	524	594	1.73e-9	SMART
low complexity region	623	637	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000079414

SMART Domains

Protein: ENSMUSP00000078383
Gene: ENSMUSG00000023072

Domain	Start	End	E-Value	Type
low complexity region	27	62	N/A	INTRINSIC
low complexity region	181	190	N/A	INTRINSIC
coiled coil region	252	291	N/A	INTRINSIC
coiled coil region	372	598	N/A	INTRINSIC
coiled coil region	670	732	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000085556

SMART Domains

Protein: ENSMUSP00000082692
Gene: ENSMUSG00000030494

Domain	Start	End	E-Value	Type
Hr1	38	101	2.42e-12	SMART
BRO1	111	513	1.27e-167	SMART
PDZ	524	594	1.73e-9	SMART
low complexity region	623	637	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125041

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129064

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141001

Predicted Effect

probably null
Transcript: ENSMUST00000154597
AA Change: C58*

SMART Domains

Protein: ENSMUSP00000115766
Gene: ENSMUSG00000030493
AA Change: C58*

Domain	Start	End	E-Value	Type
Pfam:HHH_2	162	219	2.3e-13	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000206854

Predicted Effect

probably benign
Transcript: ENSMUST00000141704

SMART Domains

Protein: ENSMUSP00000121393
Gene: ENSMUSG00000023072

Domain	Start	End	E-Value	Type
low complexity region	27	62	N/A	INTRINSIC
low complexity region	181	190	N/A	INTRINSIC
coiled coil region	252	291	N/A	INTRINSIC
coiled coil region	372	598	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] FAAP24 is a component of the Fanconi anemia (FA) core complex (see MIM 227650), which plays a crucial role in DNA damage response (Ciccia et al., 2007 [PubMed 17289582]).[supplied by OMIM, Mar 2008]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,561,427 (GRCm39)	D251E	probably benign	Het
5730460C07Rik	C	T	3: 153,495,595 (GRCm39)		noncoding transcript	Het
Coch	G	A	12: 51,649,989 (GRCm39)	R326Q	probably benign	Het
Cpa3	A	G	3: 20,270,126 (GRCm39)	V366A	probably benign	Het
Csf1r	C	T	18: 61,250,180 (GRCm39)	Q382*	probably null	Het
Csta1	C	A	16: 35,951,411 (GRCm39)	G4*	probably null	Het
Cts7	T	C	13: 61,504,417 (GRCm39)	R49G	probably damaging	Het
Dlg5	A	G	14: 24,220,522 (GRCm39)	V575A	probably benign	Het
Ero1a	G	T	14: 45,531,990 (GRCm39)	N227K	probably benign	Het
Hfm1	G	A	5: 107,059,441 (GRCm39)	Q194*	probably null	Het
Hs3st5	T	A	10: 36,709,319 (GRCm39)	Y285N	probably damaging	Het
Hyal6	G	A	6: 24,743,428 (GRCm39)	G375R	probably damaging	Het
Itgb5	T	C	16: 33,730,922 (GRCm39)	S93P	probably benign	Het
Kcnj6	A	T	16: 94,633,442 (GRCm39)	M205K	probably damaging	Het
Kdm6a	C	T	X: 18,113,343 (GRCm39)	Q92*	probably null	Het
Klhl38	A	G	15: 58,186,726 (GRCm39)	M1T	probably null	Het
Krtap7-1	T	C	16: 89,304,884 (GRCm39)		probably benign	Het
L1cam	T	C	X: 72,906,634 (GRCm39)	T270A	probably damaging	Het
Lmod2	A	G	6: 24,598,015 (GRCm39)	N45S	probably benign	Het
Magea13	G	A	X: 57,964,297 (GRCm39)	V19I	probably benign	Het
Mmp2	A	G	8: 93,565,970 (GRCm39)	I424V	probably benign	Het
Myh8	A	G	11: 67,194,739 (GRCm39)	Q1650R	possibly damaging	Het
Naalad2	T	A	9: 18,275,483 (GRCm39)	E313V	possibly damaging	Het
Nipsnap3a	A	G	4: 52,994,134 (GRCm39)	T74A	probably benign	Het
Npr2	G	T	4: 43,640,652 (GRCm39)	M368I	probably benign	Het
Nup58	T	C	14: 60,466,224 (GRCm39)	T445A	probably benign	Het
Or14a256	A	G	7: 86,264,885 (GRCm39)	Y323H	possibly damaging	Het
Or52r1b	A	G	7: 102,691,337 (GRCm39)	D212G	probably damaging	Het
Pkp3	A	G	7: 140,662,606 (GRCm39)	T73A	probably benign	Het
Pole	A	G	5: 110,449,864 (GRCm39)		probably benign	Het
Ppp2r3d	C	T	9: 101,088,391 (GRCm39)	G644D	probably benign	Het
Pramel23	G	A	4: 143,423,658 (GRCm39)	T377I	possibly damaging	Het
Ptprb	T	C	10: 116,175,487 (GRCm39)	Y1161H	probably benign	Het
Ptprs	T	A	17: 56,744,943 (GRCm39)	K264N	probably damaging	Het
Rasal2	T	C	1: 157,020,311 (GRCm39)		probably benign	Het
Serpina6	A	T	12: 103,613,172 (GRCm39)	I376N	probably damaging	Het
Setx	T	G	2: 29,051,811 (GRCm39)	I2062M	probably benign	Het
Slc9c1	A	G	16: 45,363,531 (GRCm39)	D99G	probably benign	Het
Spata31h1	T	C	10: 82,119,401 (GRCm39)		probably benign	Het
Taok1	A	G	11: 77,451,154 (GRCm39)	Y309H	probably damaging	Het
Trappc10	T	C	10: 78,024,595 (GRCm39)	D1178G	probably damaging	Het
Trav5-1	G	A	14: 52,860,302 (GRCm39)	E36K	probably damaging	Het
Vmn1r237	T	C	17: 21,535,099 (GRCm39)	V274A	probably benign	Het
Vmn1r29	A	T	6: 58,284,735 (GRCm39)	S152C	probably damaging	Het
Washc5	C	A	15: 59,235,199 (GRCm39)		probably benign	Het
Zfp369	T	G	13: 65,443,967 (GRCm39)	L370R	possibly damaging	Het
Zfp750	T	C	11: 121,404,173 (GRCm39)	Y234C	probably damaging	Het

Other mutations in Faap24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02265:Faap24	APN	7	35,095,689 (GRCm39)	missense	probably benign	0.01
IGL02951:Faap24	APN	7	35,092,376 (GRCm39)	missense	probably damaging	0.98
R0030:Faap24	UTSW	7	35,092,285 (GRCm39)	missense	probably damaging	0.97
R0606:Faap24	UTSW	7	35,094,388 (GRCm39)	unclassified	probably benign
R1378:Faap24	UTSW	7	35,092,326 (GRCm39)	missense	probably benign	0.06
R3749:Faap24	UTSW	7	35,092,437 (GRCm39)	missense	possibly damaging	0.94
R4661:Faap24	UTSW	7	35,094,509 (GRCm39)	missense	probably benign	0.00
R6279:Faap24	UTSW	7	35,095,709 (GRCm39)	missense	possibly damaging	0.90
R7025:Faap24	UTSW	7	35,092,296 (GRCm39)	missense	possibly damaging	0.84
R7074:Faap24	UTSW	7	35,094,527 (GRCm39)	missense	possibly damaging	0.92
R7171:Faap24	UTSW	7	35,092,279 (GRCm39)	nonsense	probably null
R7249:Faap24	UTSW	7	35,094,485 (GRCm39)	missense	probably benign
R7566:Faap24	UTSW	7	35,092,465 (GRCm39)	missense	probably benign	0.01
R9641:Faap24	UTSW	7	35,094,494 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02