Mutagenetix > Incidental Mutation

Incidental Mutation 'R7566:Faap24'

585450

Institutional Source

Beutler Lab

Gene Symbol

Faap24

Ensembl Gene

ENSMUSG00000030493

Gene Name

Fanconi anemia core complex associated protein 24

Synonyms

C230052I12Rik

MMRRC Submission

045628-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R7566 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35091577-35096192 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 35092465 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 151 (R151S)

Ref Sequence

ENSEMBL: ENSMUSP00000032704 (fasta)

Gene Model

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

AlphaFold

Q8BHL6

Predicted Effect

probably benign
Transcript: ENSMUST00000032704
AA Change: R151S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000032704
Gene: ENSMUSG00000030493
AA Change: R151S

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

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

Predicted Effect

probably benign
Transcript: ENSMUST00000154597
AA Change: R151S

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000115766
Gene: ENSMUSG00000030493
AA Change: R151S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000206854

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (57/57)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A830018L16Rik	T	G	1: 12,021,252 (GRCm39)	S420R	probably damaging	Het
Acat2	C	T	17: 13,166,346 (GRCm39)	D219N	probably damaging	Het
Anapc10	G	A	8: 80,446,308 (GRCm39)	R46Q	possibly damaging	Het
Ankub1	G	A	3: 57,573,039 (GRCm39)	R228*	probably null	Het
Arhgap21	T	C	2: 20,917,102 (GRCm39)	N91S	probably benign	Het
Arhgap32	T	A	9: 32,162,018 (GRCm39)	V323D	probably benign	Het
Bcas1	C	T	2: 170,212,369 (GRCm39)		probably null	Het
Cd109	C	T	9: 78,588,119 (GRCm39)	P716S	probably damaging	Het
Chd4	C	T	6: 125,078,866 (GRCm39)	P267L	possibly damaging	Het
Cpne7	G	T	8: 123,860,552 (GRCm39)	V502F	probably damaging	Het
Cracd	G	A	5: 77,014,122 (GRCm39)		probably null	Het
Dlgap4	C	T	2: 156,604,657 (GRCm39)	A921V	probably benign	Het
Fam98a	A	G	17: 75,854,657 (GRCm39)	S51P	probably damaging	Het
Fbxl8	A	G	8: 105,994,938 (GRCm39)	D150G	possibly damaging	Het
Fut10	A	G	8: 31,749,950 (GRCm39)	K412R	probably benign	Het
G0s2	T	C	1: 192,955,076 (GRCm39)	S3G	probably benign	Het
Gm1527	T	C	3: 28,974,767 (GRCm39)	Y527H	probably benign	Het
Gsdmc3	T	C	15: 63,733,510 (GRCm39)	K227R	possibly damaging	Het
Gtf2ird2	A	G	5: 134,242,848 (GRCm39)	Y354C	probably damaging	Het
Hmcn2	T	A	2: 31,344,869 (GRCm39)	N4685K	probably damaging	Het
Itgad	A	T	7: 127,791,279 (GRCm39)	Y717F	probably benign	Het
Kcnh5	C	T	12: 75,161,166 (GRCm39)	W247*	probably null	Het
Kcnt1	C	A	2: 25,806,048 (GRCm39)	S1212R	probably benign	Het
Kirrel1	A	G	3: 86,995,791 (GRCm39)	V381A	probably damaging	Het
Loxl1	T	A	9: 58,219,481 (GRCm39)	Q230L	probably damaging	Het
Magi1	T	C	6: 93,655,308 (GRCm39)	E1446G	probably benign	Het
Man1a	A	G	10: 53,795,330 (GRCm39)	V550A	possibly damaging	Het
Mgat4d	T	C	8: 84,084,652 (GRCm39)	S132P	probably damaging	Het
Muc16	T	A	9: 18,549,925 (GRCm39)	H5456L	probably benign	Het
Nhsl1	A	G	10: 18,391,867 (GRCm39)	K207R	probably damaging	Het
Nlrp4a	A	C	7: 26,148,670 (GRCm39)		probably null	Het
Nr6a1	T	C	2: 38,621,085 (GRCm39)	M407V	possibly damaging	Het
Or13c7b	A	G	4: 43,820,711 (GRCm39)	S217P	probably damaging	Het
Or2b2b	T	G	13: 21,858,737 (GRCm39)	I126L	possibly damaging	Het
Or2z2	G	T	11: 58,346,489 (GRCm39)	F95L	probably benign	Het
Or6c206	T	C	10: 129,097,469 (GRCm39)	I213T	probably damaging	Het
Ovgp1	A	G	3: 105,881,626 (GRCm39)		probably benign	Het
Ovol3	G	T	7: 29,933,791 (GRCm39)	F110L	probably damaging	Het
Pcsk5	T	C	19: 17,549,821 (GRCm39)	T724A	probably benign	Het
Phtf2	G	T	5: 20,970,799 (GRCm39)	T653N	probably damaging	Het
Plch1	A	T	3: 63,688,663 (GRCm39)		probably null	Het
Prkce	A	T	17: 86,800,757 (GRCm39)	E391V	probably benign	Het
Prob1	A	G	18: 35,788,038 (GRCm39)	V72A	probably benign	Het
Prrc2b	C	A	2: 32,084,402 (GRCm39)	P289Q	probably benign	Het
Ptbp3	A	T	4: 59,514,280 (GRCm39)	N114K	probably benign	Het
Rho	T	A	6: 115,909,135 (GRCm39)	L57H	probably damaging	Het
Slc44a5	A	C	3: 153,975,626 (GRCm39)	D679A	probably damaging	Het
Slit2	A	T	5: 48,407,239 (GRCm39)	D898V	probably damaging	Het
Spag16	C	T	1: 69,909,487 (GRCm39)	R195C	probably damaging	Het
Tmprss11a	T	G	5: 86,591,993 (GRCm39)	D60A	possibly damaging	Het
Ttn	T	A	2: 76,565,293 (GRCm39)	R28311S	probably damaging	Het
Wfikkn1	T	C	17: 26,097,352 (GRCm39)	D324G	probably damaging	Het
Zan	A	C	5: 137,410,845 (GRCm39)		probably null	Het
Zfp945	A	T	17: 23,070,727 (GRCm39)	C412S	possibly 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
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
R9641:Faap24	UTSW	7	35,094,494 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCTGAAGGCAGAGTCAGCTG -3'
(R):5'- AGCCACACAGATATTTGGGG -3'

Sequencing Primer
(F):5'- TCGCTTAGGCTGGGTGAAGAAG -3'
(R):5'- CCATTCAGGTTCAAGAGC -3'

Posted On

2019-10-17