Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02951:Faap24'

365992

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: 0.173) question?

Stock #

IGL02951

Quality Score

Status

Chromosome

Chromosomal Location

35091577-35096192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35092376 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 180 (K180N)

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 damaging
Transcript: ENSMUST00000032704
AA Change: K180N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000032704
Gene: ENSMUSG00000030493
AA Change: K180N

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 damaging
Transcript: ENSMUST00000154597
AA Change: K180N

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000115766
Gene: ENSMUSG00000030493
AA Change: K180N

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: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610028H24Rik	C	A	10: 76,290,536 (GRCm39)		probably benign	Het
Acot10	G	A	15: 20,665,868 (GRCm39)	T291I	probably benign	Het
Adam34l	T	G	8: 44,080,125 (GRCm39)	H33P	possibly damaging	Het
Atp13a3	A	G	16: 30,157,439 (GRCm39)		probably null	Het
Atp2a1	C	T	7: 126,049,399 (GRCm39)	V548M	possibly damaging	Het
Bsn	G	A	9: 107,992,812 (GRCm39)	S980L	probably damaging	Het
Ccdc158	A	G	5: 92,797,865 (GRCm39)	M425T	probably damaging	Het
Cdh23	A	G	10: 60,147,143 (GRCm39)	L2733S	probably damaging	Het
Chd3	C	T	11: 69,251,874 (GRCm39)		probably null	Het
Cimap1d	T	C	10: 79,475,811 (GRCm39)	N251S	probably benign	Het
Dock2	T	C	11: 34,260,448 (GRCm39)		probably benign	Het
Elfn2	T	C	15: 78,556,082 (GRCm39)	K822E	probably damaging	Het
Eps15l1	G	A	8: 73,112,240 (GRCm39)	S764L	probably benign	Het
Etl4	C	A	2: 20,806,348 (GRCm39)		probably benign	Het
Fhod1	G	A	8: 106,057,862 (GRCm39)	R888W	probably damaging	Het
Fus	T	C	7: 127,581,009 (GRCm39)		probably benign	Het
Gm3453	T	C	14: 5,976,168 (GRCm38)	E201G	possibly damaging	Het
Gnpat	G	T	8: 125,597,644 (GRCm39)	D69Y	probably benign	Het
Gpaa1	T	A	15: 76,217,019 (GRCm39)		probably benign	Het
Gsta1	A	T	9: 78,149,819 (GRCm39)	K211*	probably null	Het
Lct	G	T	1: 128,227,948 (GRCm39)	Q1182K	probably damaging	Het
Mroh1	T	C	15: 76,311,836 (GRCm39)	L523P	probably damaging	Het
Mrpl46	A	G	7: 78,425,200 (GRCm39)		probably benign	Het
Mst1r	G	T	9: 107,785,403 (GRCm39)	V354F	possibly damaging	Het
Myo15b	A	G	11: 115,772,127 (GRCm39)	D299G	probably damaging	Het
Myo6	G	A	9: 80,171,516 (GRCm39)	V506I	possibly damaging	Het
Nadk	A	C	4: 155,671,933 (GRCm39)	K271Q	probably benign	Het
Nbas	A	G	12: 13,412,542 (GRCm39)	R954G	probably benign	Het
Nbr1	T	A	11: 101,462,805 (GRCm39)		probably null	Het
Nup88	T	C	11: 70,835,698 (GRCm39)	D587G	possibly damaging	Het
Oas1a	A	T	5: 121,043,727 (GRCm39)	F135Y	probably damaging	Het
Obscn	A	G	11: 58,885,339 (GRCm39)		probably benign	Het
Or4k42	T	G	2: 111,320,465 (GRCm39)	I13L	probably benign	Het
Parp14	G	A	16: 35,678,903 (GRCm39)	T355I	probably benign	Het
Pdgfd	G	T	9: 6,288,494 (GRCm39)	L43F	probably damaging	Het
Pou5f2	T	C	13: 78,173,237 (GRCm39)	S60P	probably benign	Het
Prp2	A	G	6: 132,576,788 (GRCm39)	N25S	unknown	Het
Ptprq	A	T	10: 107,503,321 (GRCm39)	F779Y	probably benign	Het
Rims2	C	T	15: 39,398,334 (GRCm39)	R1078C	probably damaging	Het
Rnf38	G	T	4: 44,129,619 (GRCm39)	S425*	probably null	Het
Rps21	T	A	2: 179,899,840 (GRCm39)	I59N	probably damaging	Het
Scn5a	A	T	9: 119,324,751 (GRCm39)	F1359Y	probably damaging	Het
Slc35b2	A	G	17: 45,875,694 (GRCm39)	E67G	probably damaging	Het
Slc37a2	A	G	9: 37,166,611 (GRCm39)	F15L	probably benign	Het
Snapc4	A	C	2: 26,260,847 (GRCm39)	N465K	probably benign	Het
Spata31f1a	C	T	4: 42,850,696 (GRCm39)	E487K	probably benign	Het
Stxbp2	A	T	8: 3,691,971 (GRCm39)	I538F	probably benign	Het
Taco1	A	G	11: 105,960,353 (GRCm39)	N98S	probably benign	Het
Tcea3	T	C	4: 135,985,299 (GRCm39)		probably null	Het
Thada	T	C	17: 84,751,456 (GRCm39)	S507G	probably benign	Het
Tmem132b	T	A	5: 125,864,611 (GRCm39)	C906S	probably damaging	Het
Trpm2	A	T	10: 77,765,112 (GRCm39)	I963N	possibly damaging	Het
Usp10	A	G	8: 120,673,825 (GRCm39)	T397A	probably benign	Het
Usp3	G	A	9: 66,449,832 (GRCm39)	R160*	probably null	Het
Utp15	T	C	13: 98,394,460 (GRCm39)	Y144C	probably damaging	Het
Xpc	G	A	6: 91,483,831 (GRCm39)	R172W	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
IGL03351:Faap24	APN	7	35,094,734 (GRCm39)	nonsense	probably null
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

2015-12-18