Mutagenetix > Incidental Mutation

Incidental Mutation 'R1969:Fanca'

219477

Institutional Source

Beutler Lab

Gene Symbol

Fanca

Ensembl Gene

ENSMUSG00000032815

Gene Name

Fanconi anemia, complementation group A

Synonyms

MMRRC Submission

039982-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.678) question?

Stock #

R1969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

123995039-124045315 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 124014803 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 735 (M735K)

Ref Sequence

ENSEMBL: ENSMUSP00000116614 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035495] [ENSMUST00000127664] [ENSMUST00000127904]

AlphaFold

Q9JL70

Predicted Effect

probably benign
Transcript: ENSMUST00000035495
AA Change: M833K

PolyPhen 2 Score 0.147 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000045217
Gene: ENSMUSG00000032815
AA Change: M833K

Domain	Start	End	E-Value	Type
low complexity region	2	19	N/A	INTRINSIC
low complexity region	78	100	N/A	INTRINSIC
Pfam:Fanconi_A_N	167	520	3.7e-146	PFAM
low complexity region	645	660	N/A	INTRINSIC
low complexity region	778	790	N/A	INTRINSIC
low complexity region	1069	1079	N/A	INTRINSIC
low complexity region	1200	1225	N/A	INTRINSIC
Pfam:Fanconi_A	1246	1308	8.4e-36	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127904
AA Change: M735K

PolyPhen 2 Score 0.412 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000116614
Gene: ENSMUSG00000032815
AA Change: M735K

Domain	Start	End	E-Value	Type
low complexity region	547	562	N/A	INTRINSIC
low complexity region	680	692	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133950

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155488

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000212953

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The Fanconi anemia complementation group (FANC) currently includes FANCA, FANCB, FANCC, FANCD1 (also called BRCA2), FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ (also called BRIP1), FANCL, FANCM and FANCN (also called PALB2). The previously defined group FANCH is the same as FANCA. Fanconi anemia is a genetically heterogeneous recessive disorder characterized by cytogenetic instability, hypersensitivity to DNA crosslinking agents, increased chromosomal breakage, and defective DNA repair. The members of the Fanconi anemia complementation group do not share sequence similarity; they are related by their assembly into a common nuclear protein complex. This gene encodes the protein for complementation group A. Alternative splicing results in multiple transcript variants encoding different isoforms. Mutations in this gene are the most common cause of Fanconi anemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mutants show variably: growth retardation, microphthalmia, craniofacial malformations and hematological changes, depending on allele and strain background. Both sexes show hypogonadism, including diminished primordial germ cells and impaired fertility. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059E24Rik	T	C	19: 21,575,609 (GRCm39)		probably benign	Het
Apoh	G	A	11: 108,298,288 (GRCm39)	R196Q	probably benign	Het
Arnt	C	T	3: 95,355,704 (GRCm39)	S16L	possibly damaging	Het
B4galnt4	T	C	7: 140,644,761 (GRCm39)	F194L	probably benign	Het
BC034090	A	T	1: 155,100,972 (GRCm39)	L431M	possibly damaging	Het
Bdh2	G	T	3: 134,994,040 (GRCm39)	A31S	probably damaging	Het
Brd10	C	T	19: 29,694,075 (GRCm39)	S1873N	possibly damaging	Het
Cacna1s	T	C	1: 136,046,833 (GRCm39)	S1821P	probably benign	Het
Caskin1	A	T	17: 24,725,824 (GRCm39)	Q1370L	possibly damaging	Het
Ccdc83	T	A	7: 89,893,362 (GRCm39)	S132C	probably damaging	Het
Cdk15	A	T	1: 59,370,110 (GRCm39)	H384L	probably damaging	Het
Col24a1	T	C	3: 145,020,691 (GRCm39)	I354T	probably benign	Het
Coro7	T	C	16: 4,451,620 (GRCm39)	I451V	probably benign	Het
Ctnna2	T	C	6: 77,735,483 (GRCm39)	E65G	probably damaging	Het
Ctsll3	A	T	13: 60,948,162 (GRCm39)	W172R	probably benign	Het
D630045J12Rik	T	C	6: 38,145,078 (GRCm39)	D1316G	probably damaging	Het
Ddx19b	C	T	8: 111,734,890 (GRCm39)	A493T	probably benign	Het
Ddx4	C	T	13: 112,736,547 (GRCm39)	V608I	probably damaging	Het
Ddx4	T	A	13: 112,757,276 (GRCm39)	H348L	probably damaging	Het
Dnah17	G	C	11: 117,995,361 (GRCm39)	Q996E	probably benign	Het
Dnah9	G	C	11: 65,739,197 (GRCm39)	N4180K	probably damaging	Het
Dok7	A	G	5: 35,234,610 (GRCm39)		probably null	Het
Dpf3	T	A	12: 83,371,809 (GRCm39)		probably null	Het
Efcab3	A	G	11: 104,637,090 (GRCm39)	I988M	probably damaging	Het
Elfn1	G	C	5: 139,958,604 (GRCm39)	R536P	probably damaging	Het
Eml6	A	G	11: 29,783,075 (GRCm39)	V602A	probably benign	Het
Enpp2	T	C	15: 54,746,378 (GRCm39)	D296G	probably damaging	Het
Evi5	A	T	5: 107,896,230 (GRCm39)	F738I	probably benign	Het
Eya2	T	C	2: 165,558,039 (GRCm39)	S212P	probably benign	Het
Fam83a	T	C	15: 57,849,498 (GRCm39)	L14P	probably damaging	Het
Fancm	T	A	12: 65,148,466 (GRCm39)	S694T	probably benign	Het
Fibcd1	G	A	2: 31,706,673 (GRCm39)	T386I	probably damaging	Het
Foxd4	A	G	19: 24,877,178 (GRCm39)	S341P	probably benign	Het
Foxp4	C	T	17: 48,186,796 (GRCm39)	R378Q	unknown	Het
Fryl	A	T	5: 73,255,609 (GRCm39)	S807R	probably benign	Het
Fscb	T	C	12: 64,520,008 (GRCm39)	E486G	unknown	Het
Galnt17	A	G	5: 131,179,782 (GRCm39)	S122P	probably benign	Het
Ghitm	A	G	14: 36,853,586 (GRCm39)	F85L	probably benign	Het
Ghrh	C	A	2: 157,175,386 (GRCm39)	V32L	probably benign	Het
Gli2	C	T	1: 118,765,430 (GRCm39)	R907H	probably benign	Het
Gm28042	A	G	2: 119,872,096 (GRCm39)	*1015W	probably null	Het
Gpr179	T	C	11: 97,228,784 (GRCm39)	T1124A	probably benign	Het
Grid2	C	A	6: 63,885,902 (GRCm39)	C99*	probably null	Het
Grin1	A	T	2: 25,187,927 (GRCm39)	M523K	probably benign	Het
Gucy2g	T	C	19: 55,211,328 (GRCm39)	Y634C	possibly damaging	Het
Gucy2g	T	G	19: 55,221,485 (GRCm39)	T339P	probably benign	Het
Haus6	A	T	4: 86,522,483 (GRCm39)	L116H	probably damaging	Het
Hey1	T	C	3: 8,731,879 (GRCm39)	T18A	probably benign	Het
Hipk3	T	C	2: 104,264,186 (GRCm39)	N792D	probably damaging	Het
Il19	A	T	1: 130,866,893 (GRCm39)	L29Q	probably damaging	Het
Il21r	A	G	7: 125,228,144 (GRCm39)	Q205R	probably damaging	Het
Kcnip2	T	C	19: 45,782,122 (GRCm39)	D169G	probably null	Het
Kctd18	T	C	1: 58,006,779 (GRCm39)	I24V	probably benign	Het
Lcp1	T	C	14: 75,437,946 (GRCm39)	S119P	probably damaging	Het
Lig3	G	C	11: 82,686,544 (GRCm39)	D642H	probably benign	Het
Lrba	A	G	3: 86,515,696 (GRCm39)	K2166E	probably damaging	Het
Lrrn2	T	C	1: 132,866,972 (GRCm39)	V679A	probably benign	Het
Lyst	G	A	13: 13,904,929 (GRCm39)	R3202H	probably damaging	Het
Micall2	A	G	5: 139,721,885 (GRCm39)	C11R	probably damaging	Het
Morc2b	T	G	17: 33,356,065 (GRCm39)	Q569P	probably benign	Het
Mtrf1	A	G	14: 79,639,111 (GRCm39)	E81G	probably damaging	Het
Myh2	G	T	11: 67,080,004 (GRCm39)	S1099I	possibly damaging	Het
Nap1l1	T	A	10: 111,326,914 (GRCm39)	D158E	probably benign	Het
Nckap5l	T	A	15: 99,320,699 (GRCm39)	T1285S	probably damaging	Het
Nsrp1	A	T	11: 76,936,612 (GRCm39)	M528K	probably damaging	Het
Numa1	C	T	7: 101,658,529 (GRCm39)	A1605V	probably damaging	Het
Nutm2	T	C	13: 50,627,878 (GRCm39)	L453P	probably damaging	Het
Ofd1	T	C	X: 165,210,210 (GRCm39)	Y205C	probably benign	Het
Or2ag12	T	A	7: 106,276,877 (GRCm39)	N272I	probably damaging	Het
Or2n1c	A	G	17: 38,519,355 (GRCm39)	Y73C	probably damaging	Het
Or4c125	T	A	2: 89,170,640 (GRCm39)	N2I	probably damaging	Het
Or52k2	A	T	7: 102,253,777 (GRCm39)	D72V	probably damaging	Het
Or7a40	T	A	16: 16,491,447 (GRCm39)	M133L	probably benign	Het
Patl1	T	C	19: 11,898,782 (GRCm39)	L159P	probably benign	Het
Paxip1	G	A	5: 27,949,134 (GRCm39)	T1045I	probably damaging	Het
Phaf1	T	A	8: 105,973,132 (GRCm39)	D247E	possibly damaging	Het
Pik3ca	A	G	3: 32,505,903 (GRCm39)		probably null	Het
Pkhd1	T	A	1: 20,451,747 (GRCm39)	I2183F	probably damaging	Het
Plec	C	T	15: 76,073,372 (GRCm39)	R319H	probably damaging	Het
Pnkd	G	A	1: 74,391,008 (GRCm39)	G334D	probably damaging	Het
Prss50	A	G	9: 110,691,449 (GRCm39)	Y251C	probably damaging	Het
Rab11b	A	T	17: 33,979,209 (GRCm39)	Y10N	probably damaging	Het
Rfc1	G	A	5: 65,476,867 (GRCm39)	R4W	probably damaging	Het
Rgs19	A	T	2: 181,331,276 (GRCm39)	F119Y	probably damaging	Het
Safb	A	G	17: 56,912,821 (GRCm39)	H883R	probably benign	Het
Serpine1	G	A	5: 137,096,601 (GRCm39)	Q227*	probably null	Het
Slc25a13	A	G	6: 6,096,668 (GRCm39)		probably null	Het
Slc6a18	T	A	13: 73,812,308 (GRCm39)	T502S	possibly damaging	Het
Sox4	T	C	13: 29,136,631 (GRCm39)	D125G	probably damaging	Het
Spata31d1e	T	C	13: 59,890,599 (GRCm39)	D407G	probably damaging	Het
Stag3	C	T	5: 138,298,400 (GRCm39)	T731I	probably damaging	Het
Thada	G	T	17: 84,617,470 (GRCm39)	P1349T	probably damaging	Het
Tmem245	C	A	4: 56,937,964 (GRCm39)	V195F	probably benign	Het
Tnxb	A	G	17: 34,898,055 (GRCm39)	H901R	probably benign	Het
Trim39	A	T	17: 36,579,645 (GRCm39)	D103E	probably benign	Het
Ttn	A	T	2: 76,562,304 (GRCm39)	V28847E	probably damaging	Het
Tubb1	A	T	2: 174,297,484 (GRCm39)	D31V	possibly damaging	Het
Ush1g	A	G	11: 115,209,280 (GRCm39)	S305P	probably damaging	Het
Vmn1r191	A	T	13: 22,362,952 (GRCm39)	N267K	possibly damaging	Het
Vmn1r59	A	T	7: 5,457,038 (GRCm39)	Y241N	probably damaging	Het
Vmn2r49	T	C	7: 9,720,235 (GRCm39)	N419D	probably damaging	Het
Vps35	T	C	8: 86,005,623 (GRCm39)	D326G	possibly damaging	Het
Xdh	A	G	17: 74,199,746 (GRCm39)	S1187P	possibly damaging	Het
Xpc	A	C	6: 91,478,007 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,282 (GRCm39)	Y104H	probably damaging	Het

Other mutations in Fanca

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02348:Fanca	APN	8	124,032,002 (GRCm39)	missense	probably damaging	1.00
IGL02805:Fanca	APN	8	124,016,233 (GRCm39)	missense	probably damaging	0.99
IGL03280:Fanca	APN	8	124,043,198 (GRCm39)	unclassified	probably benign
PIT4402001:Fanca	UTSW	8	124,039,803 (GRCm39)	missense	possibly damaging	0.83
R0114:Fanca	UTSW	8	124,015,230 (GRCm39)	splice site	probably null
R0115:Fanca	UTSW	8	123,995,278 (GRCm39)	missense	probably benign	0.00
R0271:Fanca	UTSW	8	123,999,180 (GRCm39)	unclassified	probably benign
R0330:Fanca	UTSW	8	124,000,911 (GRCm39)	nonsense	probably null
R0345:Fanca	UTSW	8	124,031,552 (GRCm39)	missense	probably damaging	1.00
R0570:Fanca	UTSW	8	124,033,169 (GRCm39)	missense	probably benign	0.01
R0601:Fanca	UTSW	8	124,035,252 (GRCm39)	missense	probably damaging	0.99
R0617:Fanca	UTSW	8	124,014,809 (GRCm39)	missense	probably damaging	0.99
R0639:Fanca	UTSW	8	124,016,098 (GRCm39)	critical splice donor site	probably null
R0943:Fanca	UTSW	8	124,000,925 (GRCm39)	missense	probably damaging	1.00
R1140:Fanca	UTSW	8	124,039,868 (GRCm39)	splice site	probably null
R1364:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1366:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1367:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1368:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
R1992:Fanca	UTSW	8	124,024,551 (GRCm39)	missense	possibly damaging	0.94
R2060:Fanca	UTSW	8	124,001,220 (GRCm39)	missense	probably damaging	1.00
R2174:Fanca	UTSW	8	123,998,009 (GRCm39)	missense	probably benign	0.00
R2261:Fanca	UTSW	8	124,016,098 (GRCm39)	critical splice donor site	probably null
R3957:Fanca	UTSW	8	124,043,102 (GRCm39)	missense	probably benign	0.00
R4062:Fanca	UTSW	8	124,001,911 (GRCm39)	missense	probably benign	0.00
R4153:Fanca	UTSW	8	124,031,617 (GRCm39)	missense	possibly damaging	0.89
R4270:Fanca	UTSW	8	123,995,533 (GRCm39)	missense	probably damaging	1.00
R4424:Fanca	UTSW	8	124,015,532 (GRCm39)	missense	probably benign	0.11
R4581:Fanca	UTSW	8	124,001,077 (GRCm39)	splice site	probably null
R4639:Fanca	UTSW	8	124,044,889 (GRCm39)	missense	probably damaging	0.98
R4664:Fanca	UTSW	8	123,995,711 (GRCm39)	missense	probably damaging	0.99
R4665:Fanca	UTSW	8	123,995,711 (GRCm39)	missense	probably damaging	0.99
R4666:Fanca	UTSW	8	123,995,711 (GRCm39)	missense	probably damaging	0.99
R4686:Fanca	UTSW	8	123,995,673 (GRCm39)	splice site	probably benign
R4775:Fanca	UTSW	8	124,023,045 (GRCm39)	missense	probably damaging	0.99
R4782:Fanca	UTSW	8	124,014,941 (GRCm39)	missense	probably damaging	1.00
R4799:Fanca	UTSW	8	124,014,941 (GRCm39)	missense	probably damaging	1.00
R4926:Fanca	UTSW	8	124,030,724 (GRCm39)	missense	probably benign	0.05
R4973:Fanca	UTSW	8	124,035,261 (GRCm39)	missense	probably damaging	0.96
R5039:Fanca	UTSW	8	124,010,785 (GRCm39)	missense	probably benign
R5195:Fanca	UTSW	8	124,030,684 (GRCm39)	intron	probably benign
R5590:Fanca	UTSW	8	124,030,702 (GRCm39)	intron	probably benign
R5848:Fanca	UTSW	8	124,021,792 (GRCm39)	intron	probably benign
R5965:Fanca	UTSW	8	124,043,149 (GRCm39)	missense	possibly damaging	0.46
R6224:Fanca	UTSW	8	124,032,020 (GRCm39)	missense	possibly damaging	0.87
R6385:Fanca	UTSW	8	124,032,606 (GRCm39)	splice site	probably null
R6762:Fanca	UTSW	8	123,998,042 (GRCm39)	missense	probably benign	0.26
R6795:Fanca	UTSW	8	124,045,232 (GRCm39)	missense	probably benign	0.02
R6810:Fanca	UTSW	8	124,013,216 (GRCm39)	missense	probably damaging	0.99
R7153:Fanca	UTSW	8	124,043,164 (GRCm39)	missense	probably damaging	1.00
R7170:Fanca	UTSW	8	123,997,945 (GRCm39)	missense	probably damaging	1.00
R7204:Fanca	UTSW	8	124,013,216 (GRCm39)	missense	probably damaging	0.98
R7366:Fanca	UTSW	8	124,007,952 (GRCm39)	missense	probably benign	0.08
R7599:Fanca	UTSW	8	123,997,999 (GRCm39)	missense	probably benign
R7639:Fanca	UTSW	8	124,018,134 (GRCm39)	critical splice donor site	probably null
R7650:Fanca	UTSW	8	123,995,303 (GRCm39)	splice site	probably null
R8066:Fanca	UTSW	8	124,030,679 (GRCm39)	missense	unknown
R8247:Fanca	UTSW	8	124,010,694 (GRCm39)	unclassified	probably benign
R8312:Fanca	UTSW	8	123,996,549 (GRCm39)	intron	probably benign
R8327:Fanca	UTSW	8	124,039,984 (GRCm39)	nonsense	probably null
R8719:Fanca	UTSW	8	124,014,867 (GRCm39)	missense	probably benign	0.00
R8826:Fanca	UTSW	8	123,995,209 (GRCm39)	missense	probably benign	0.07
R8987:Fanca	UTSW	8	124,024,538 (GRCm39)	missense	probably damaging	1.00
R9017:Fanca	UTSW	8	124,035,307 (GRCm39)	missense	possibly damaging	0.69
R9319:Fanca	UTSW	8	124,018,190 (GRCm39)	missense	probably benign
R9471:Fanca	UTSW	8	124,000,897 (GRCm39)	missense	possibly damaging	0.88
R9542:Fanca	UTSW	8	124,023,078 (GRCm39)	missense	probably damaging	0.98
R9656:Fanca	UTSW	8	124,031,482 (GRCm39)	missense	probably benign	0.02
R9708:Fanca	UTSW	8	124,001,263 (GRCm39)	nonsense	probably null
V7732:Fanca	UTSW	8	124,031,020 (GRCm39)	splice site	probably benign
X0025:Fanca	UTSW	8	124,003,287 (GRCm39)	intron	probably benign
X0062:Fanca	UTSW	8	124,031,591 (GRCm39)	missense	possibly damaging	0.95
Z1177:Fanca	UTSW	8	124,039,368 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGAGGTGACCTAACTATTCTCCC -3'
(R):5'- TGAGCACCTCTCATGTCCTG -3'

Sequencing Primer
(F):5'- AACTATTCTCCCCTAGTTGGAAGG -3'
(R):5'- CTCATGTCCTGGGCTTGGC -3'

Posted On

2014-08-25