Mutagenetix > Incidental Mutation

Incidental Mutation 'R1559:Fancm'

170513

Institutional Source

Beutler Lab

Gene Symbol

Fancm

Ensembl Gene

ENSMUSG00000055884

Gene Name

Fanconi anemia, complementation group M

Synonyms

D12Ertd364e, C730036B14Rik

MMRRC Submission

039598-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R1559 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

65122377-65178832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 65140463 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 395 (E395G)

Ref Sequence

ENSEMBL: ENSMUSP00000054797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058889] [ENSMUST00000222540]

AlphaFold

Q8BGE5

Predicted Effect

probably benign
Transcript: ENSMUST00000058889
AA Change: E395G

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: E395G

Domain	Start	End	E-Value	Type
DEXDc	75	275	5.6e-25	SMART
Blast:DEXDc	295	323	9e-6	BLAST
low complexity region	339	348	N/A	INTRINSIC
HELICc	475	566	5.64e-21	SMART
Pfam:FANCM-MHF_bd	657	770	8.5e-50	PFAM
low complexity region	850	866	N/A	INTRINSIC
low complexity region	974	987	N/A	INTRINSIC
low complexity region	1105	1120	N/A	INTRINSIC
low complexity region	1165	1178	N/A	INTRINSIC
PDB:4DAY\|C	1207	1238	1e-6	PDB
low complexity region	1489	1506	N/A	INTRINSIC
low complexity region	1572	1586	N/A	INTRINSIC
low complexity region	1669	1682	N/A	INTRINSIC
ERCC4	1780	1863	2.07e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000221937

Predicted Effect

probably benign
Transcript: ENSMUST00000222540
AA Change: E395G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223051

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223401

Meta Mutation Damage Score

0.0766

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.0%
20x: 84.8%

Validation Efficiency

95% (73/77)

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 M. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced female transmission, hypogonadism, premature death, and increased incidence of tumors. [provided by MGI curators]

Allele List at MGI

All alleles(39) : Targeted(4) Gene trapped(35)

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	T	A	11: 9,349,180 (GRCm39)	W3585R	probably null	Het
Ajm1	G	T	2: 25,467,043 (GRCm39)	S956*	probably null	Het
Babam1	G	C	8: 71,850,424 (GRCm39)	E18Q	probably damaging	Het
Bcan	G	T	3: 87,901,519 (GRCm39)	S394R	probably damaging	Het
Birc6	T	A	17: 74,999,232 (GRCm39)	F4653L	probably damaging	Het
Camsap2	A	T	1: 136,209,832 (GRCm39)	H559Q	probably benign	Het
Cars2	G	T	8: 11,580,430 (GRCm39)		probably null	Het
Ccdc93	T	A	1: 121,389,712 (GRCm39)		probably benign	Het
Ccna2	C	A	3: 36,624,879 (GRCm39)		probably benign	Het
Cdc6	T	A	11: 98,803,037 (GRCm39)	L326I	probably damaging	Het
Cdh23	A	T	10: 60,255,478 (GRCm39)		probably benign	Het
Cenpe	T	A	3: 134,976,661 (GRCm39)	S2423T	probably benign	Het
Cftr	A	G	6: 18,225,936 (GRCm39)	M295V	probably benign	Het
Cxcl2	A	G	5: 91,051,871 (GRCm39)	H23R	probably benign	Het
Cyp4a12b	A	G	4: 115,291,181 (GRCm39)	T370A	probably damaging	Het
Daam2	A	G	17: 49,803,148 (GRCm39)		probably benign	Het
Dclk3	T	C	9: 111,298,276 (GRCm39)	F607L	probably damaging	Het
Des	T	G	1: 75,337,230 (GRCm39)	S57A	probably benign	Het
Drd1	A	T	13: 54,206,964 (GRCm39)	S410T	probably damaging	Het
Ecm1	G	A	3: 95,643,275 (GRCm39)	R342C	probably damaging	Het
Fanci	T	C	7: 79,082,941 (GRCm39)	L639P	probably damaging	Het
Grik3	A	G	4: 125,601,790 (GRCm39)	D889G	probably benign	Het
Heyl	A	G	4: 123,135,192 (GRCm39)	S62G	probably damaging	Het
Hmox1	C	T	8: 75,826,577 (GRCm39)	P267L	probably damaging	Het
Ifi213	A	C	1: 173,394,784 (GRCm39)	S584A	probably benign	Het
Il12rb2	G	T	6: 67,333,576 (GRCm39)	F234L	probably benign	Het
Il4i1	T	A	7: 44,488,811 (GRCm39)	S233T	probably damaging	Het
Itga4	A	G	2: 79,146,032 (GRCm39)	S745G	probably benign	Het
Kalrn	T	A	16: 33,830,918 (GRCm39)	I734F	possibly damaging	Het
Klk1b16	T	C	7: 43,790,425 (GRCm39)	I200T	probably benign	Het
Lrrc4c	T	A	2: 97,461,117 (GRCm39)	M581K	probably benign	Het
M6pr	A	T	6: 122,292,033 (GRCm39)	I122L	probably benign	Het
Magi3	T	C	3: 103,954,169 (GRCm39)		probably benign	Het
Mybpc2	T	G	7: 44,163,111 (GRCm39)	T480P	probably benign	Het
Or14c44	T	C	7: 86,061,575 (GRCm39)	S43P	probably benign	Het
Or1j17	A	G	2: 36,578,770 (GRCm39)	Y252C	probably damaging	Het
Or51ab3	A	T	7: 103,201,372 (GRCm39)	I127F	possibly damaging	Het
Or8g23	T	C	9: 38,971,437 (GRCm39)	N175S	probably benign	Het
Pcx	T	A	19: 4,669,114 (GRCm39)	I704N	probably damaging	Het
Pde3a	G	T	6: 141,404,824 (GRCm39)	A350S	probably damaging	Het
Ppox	A	T	1: 171,107,580 (GRCm39)		probably benign	Het
Prb1a	T	A	6: 132,185,507 (GRCm39)	Y42F	unknown	Het
Rsph4a	T	A	10: 33,785,727 (GRCm39)	V546E	probably damaging	Het
Saxo4	T	C	19: 10,458,770 (GRCm39)	T87A	probably benign	Het
Sf3b1	C	G	1: 55,058,554 (GRCm39)	E12Q	possibly damaging	Het
Sh3tc1	A	G	5: 35,860,693 (GRCm39)		probably null	Het
Slc22a2	T	C	17: 12,803,298 (GRCm39)	F44S	probably damaging	Het
Slco6c1	T	A	1: 97,026,223 (GRCm39)	D334V	probably damaging	Het
Smim19	T	C	8: 22,953,352 (GRCm39)	D105G	probably damaging	Het
Smpdl3a	A	G	10: 57,683,588 (GRCm39)	T233A	probably damaging	Het
St8sia5	G	A	18: 77,299,460 (GRCm39)		probably null	Het
Stk32a	C	A	18: 43,376,149 (GRCm39)	Q73K	probably benign	Het
Tmem129	G	T	5: 33,815,100 (GRCm39)		probably null	Het
Traf3ip3	A	T	1: 192,860,599 (GRCm39)	L441Q	probably damaging	Het
Ttn	C	T	2: 76,731,305 (GRCm39)		probably benign	Het
Unc45b	T	C	11: 82,808,672 (GRCm39)	S253P	possibly damaging	Het
Vars2	A	G	17: 35,977,150 (GRCm39)		probably benign	Het
Vmn2r51	C	T	7: 9,836,372 (GRCm39)	M136I	possibly damaging	Het
Vmn2r51	A	G	7: 9,836,373 (GRCm39)	M136T	possibly damaging	Het
Zfp595	T	C	13: 67,465,127 (GRCm39)	I379V	possibly damaging	Het

Other mutations in Fancm

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00158:Fancm	APN	12	65,122,510 (GRCm39)	missense	possibly damaging	0.50
IGL00489:Fancm	APN	12	65,152,967 (GRCm39)	missense	probably benign	0.01
IGL00529:Fancm	APN	12	65,177,191 (GRCm39)	utr 3 prime	probably benign
IGL00898:Fancm	APN	12	65,152,774 (GRCm39)	missense	probably benign	0.01
IGL01805:Fancm	APN	12	65,160,635 (GRCm39)	critical splice donor site	probably null
IGL01986:Fancm	APN	12	65,173,429 (GRCm39)	nonsense	probably null
IGL02026:Fancm	APN	12	65,152,508 (GRCm39)	missense	probably benign	0.03
IGL02069:Fancm	APN	12	65,122,685 (GRCm39)	missense	probably benign	0.05
IGL02103:Fancm	APN	12	65,142,558 (GRCm39)	missense	probably benign	0.38
IGL02133:Fancm	APN	12	65,153,249 (GRCm39)	missense	probably benign	0.04
IGL02400:Fancm	APN	12	65,160,589 (GRCm39)	missense	probably damaging	1.00
IGL02478:Fancm	APN	12	65,123,864 (GRCm39)	missense	probably damaging	1.00
IGL02479:Fancm	APN	12	65,153,259 (GRCm39)	missense	probably damaging	0.98
IGL02563:Fancm	APN	12	65,139,236 (GRCm39)	missense	probably damaging	1.00
IGL02606:Fancm	APN	12	65,122,913 (GRCm39)	missense	possibly damaging	0.90
IGL02731:Fancm	APN	12	65,135,079 (GRCm39)	missense	probably benign	0.00
IGL02809:Fancm	APN	12	65,168,441 (GRCm39)	missense	possibly damaging	0.54
IGL02953:Fancm	APN	12	65,168,740 (GRCm39)	missense	probably benign	0.27
IGL03066:Fancm	APN	12	65,171,888 (GRCm39)	nonsense	probably null
IGL03073:Fancm	APN	12	65,148,406 (GRCm39)	missense	probably damaging	1.00
Fancypants	UTSW	12	65,153,235 (GRCm39)	missense	probably damaging	1.00
Mylord	UTSW	12	65,163,197 (GRCm39)	nonsense	probably null
R0041_fancm_712	UTSW	12	65,153,217 (GRCm39)	nonsense	probably null
R7172_Fancm_370	UTSW	12	65,152,828 (GRCm39)	missense	possibly damaging	0.95
BB005:Fancm	UTSW	12	65,152,898 (GRCm39)	missense	unknown
BB015:Fancm	UTSW	12	65,152,898 (GRCm39)	missense	unknown
PIT4131001:Fancm	UTSW	12	65,152,196 (GRCm39)	missense	probably benign	0.03
R0041:Fancm	UTSW	12	65,153,217 (GRCm39)	nonsense	probably null
R0041:Fancm	UTSW	12	65,153,217 (GRCm39)	nonsense	probably null
R0125:Fancm	UTSW	12	65,168,730 (GRCm39)	missense	possibly damaging	0.68
R0201:Fancm	UTSW	12	65,148,406 (GRCm39)	missense	probably damaging	1.00
R0360:Fancm	UTSW	12	65,122,724 (GRCm39)	missense	probably damaging	1.00
R0491:Fancm	UTSW	12	65,152,835 (GRCm39)	missense	probably benign	0.32
R0557:Fancm	UTSW	12	65,165,216 (GRCm39)	critical splice donor site	probably null
R0617:Fancm	UTSW	12	65,144,091 (GRCm39)	nonsense	probably null
R1201:Fancm	UTSW	12	65,153,542 (GRCm39)	missense	possibly damaging	0.66
R1353:Fancm	UTSW	12	65,134,944 (GRCm39)	missense	probably damaging	1.00
R1456:Fancm	UTSW	12	65,165,125 (GRCm39)	missense	possibly damaging	0.48
R1468:Fancm	UTSW	12	65,146,067 (GRCm39)	missense	probably damaging	1.00
R1468:Fancm	UTSW	12	65,146,067 (GRCm39)	missense	probably damaging	1.00
R1521:Fancm	UTSW	12	65,168,478 (GRCm39)	missense	probably benign	0.25
R1530:Fancm	UTSW	12	65,139,264 (GRCm39)	critical splice donor site	probably null
R1632:Fancm	UTSW	12	65,177,105 (GRCm39)	missense	probably damaging	1.00
R1681:Fancm	UTSW	12	65,152,430 (GRCm39)	missense	probably benign	0.03
R1919:Fancm	UTSW	12	65,152,294 (GRCm39)	missense	possibly damaging	0.48
R1969:Fancm	UTSW	12	65,148,466 (GRCm39)	missense	probably benign	0.09
R1971:Fancm	UTSW	12	65,148,466 (GRCm39)	missense	probably benign	0.09
R2117:Fancm	UTSW	12	65,123,948 (GRCm39)	missense	probably damaging	1.00
R2510:Fancm	UTSW	12	65,160,544 (GRCm39)	splice site	probably benign
R2909:Fancm	UTSW	12	65,171,630 (GRCm39)	missense	probably damaging	1.00
R3155:Fancm	UTSW	12	65,163,195 (GRCm39)	missense	probably benign	0.32
R3405:Fancm	UTSW	12	65,122,546 (GRCm39)	missense	probably benign	0.00
R4133:Fancm	UTSW	12	65,167,304 (GRCm39)	missense	probably benign	0.44
R4308:Fancm	UTSW	12	65,173,305 (GRCm39)	missense	probably benign	0.14
R4588:Fancm	UTSW	12	65,165,215 (GRCm39)	critical splice donor site	probably null
R4602:Fancm	UTSW	12	65,171,718 (GRCm39)	missense	probably benign	0.12
R4653:Fancm	UTSW	12	65,129,828 (GRCm39)	missense	probably damaging	0.99
R4702:Fancm	UTSW	12	65,168,826 (GRCm39)	missense	possibly damaging	0.95
R4719:Fancm	UTSW	12	65,168,480 (GRCm39)	missense	possibly damaging	0.64
R4885:Fancm	UTSW	12	65,149,417 (GRCm39)	nonsense	probably null
R4896:Fancm	UTSW	12	65,122,605 (GRCm39)	missense	probably damaging	1.00
R4908:Fancm	UTSW	12	65,141,645 (GRCm39)	missense	probably benign	0.28
R4921:Fancm	UTSW	12	65,123,915 (GRCm39)	missense	probably benign	0.19
R4922:Fancm	UTSW	12	65,153,666 (GRCm39)	critical splice donor site	probably null
R4948:Fancm	UTSW	12	65,137,748 (GRCm39)	missense	probably damaging	1.00
R5103:Fancm	UTSW	12	65,152,632 (GRCm39)	missense	probably damaging	0.99
R5577:Fancm	UTSW	12	65,177,185 (GRCm39)	utr 3 prime	probably benign
R5631:Fancm	UTSW	12	65,160,617 (GRCm39)	missense	probably damaging	0.97
R5741:Fancm	UTSW	12	65,148,389 (GRCm39)	missense	probably benign	0.01
R6137:Fancm	UTSW	12	65,177,156 (GRCm39)	missense	probably damaging	1.00
R6167:Fancm	UTSW	12	65,141,669 (GRCm39)	missense	probably benign	0.42
R6242:Fancm	UTSW	12	65,163,216 (GRCm39)	missense	probably benign	0.01
R6242:Fancm	UTSW	12	65,163,223 (GRCm39)	missense	probably benign	0.00
R6281:Fancm	UTSW	12	65,135,044 (GRCm39)	missense	probably damaging	1.00
R6325:Fancm	UTSW	12	65,171,826 (GRCm39)	missense	probably damaging	1.00
R6434:Fancm	UTSW	12	65,123,942 (GRCm39)	missense	probably damaging	1.00
R6493:Fancm	UTSW	12	65,144,262 (GRCm39)	missense	probably benign	0.04
R6542:Fancm	UTSW	12	65,144,203 (GRCm39)	missense	probably damaging	1.00
R6645:Fancm	UTSW	12	65,152,874 (GRCm39)	missense	probably damaging	0.99
R6878:Fancm	UTSW	12	65,163,197 (GRCm39)	nonsense	probably null
R7171:Fancm	UTSW	12	65,148,394 (GRCm39)	missense	probably damaging	0.99
R7172:Fancm	UTSW	12	65,152,828 (GRCm39)	missense	possibly damaging	0.95
R7498:Fancm	UTSW	12	65,146,165 (GRCm39)	missense	probably benign	0.01
R7585:Fancm	UTSW	12	65,153,021 (GRCm39)	missense	possibly damaging	0.62
R7610:Fancm	UTSW	12	65,152,454 (GRCm39)	missense	probably damaging	1.00
R7722:Fancm	UTSW	12	65,153,235 (GRCm39)	missense	probably damaging	1.00
R7740:Fancm	UTSW	12	65,173,321 (GRCm39)	missense	possibly damaging	0.90
R7867:Fancm	UTSW	12	65,165,173 (GRCm39)	missense	probably benign	0.12
R7867:Fancm	UTSW	12	65,163,240 (GRCm39)	critical splice donor site	probably null
R7882:Fancm	UTSW	12	65,173,568 (GRCm39)	missense	probably benign	0.12
R7928:Fancm	UTSW	12	65,152,898 (GRCm39)	missense	unknown
R8230:Fancm	UTSW	12	65,149,424 (GRCm39)	missense	probably benign	0.17
R8470:Fancm	UTSW	12	65,171,931 (GRCm39)	missense	probably damaging	1.00
R8553:Fancm	UTSW	12	65,173,469 (GRCm39)	missense	possibly damaging	0.62
R8695:Fancm	UTSW	12	65,171,947 (GRCm39)	missense	probably damaging	1.00
R8817:Fancm	UTSW	12	65,167,331 (GRCm39)	missense	probably damaging	1.00
R8878:Fancm	UTSW	12	65,173,522 (GRCm39)	missense	probably damaging	1.00
R9027:Fancm	UTSW	12	65,122,605 (GRCm39)	missense	probably damaging	1.00
R9223:Fancm	UTSW	12	65,149,358 (GRCm39)	missense	probably benign	0.12
R9280:Fancm	UTSW	12	65,153,612 (GRCm39)	missense	probably benign	0.16
R9487:Fancm	UTSW	12	65,153,388 (GRCm39)	nonsense	probably null
R9562:Fancm	UTSW	12	65,168,494 (GRCm39)	missense	probably damaging	1.00
R9565:Fancm	UTSW	12	65,168,494 (GRCm39)	missense	probably damaging	1.00
R9575:Fancm	UTSW	12	65,152,314 (GRCm39)	missense	possibly damaging	0.88
R9664:Fancm	UTSW	12	65,137,758 (GRCm39)	missense	probably benign	0.08
Z1176:Fancm	UTSW	12	65,141,700 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- AATGTGGAACTAGGGCAGATTATTGACG -3'
(R):5'- CTTAGCATTTCGCAAGACTGTGGC -3'

Sequencing Primer
(F):5'- GTCCACGTTAAATAGGAAAAGTTTGC -3'
(R):5'- ctttgatgttgctggagctg -3'

Posted On

2014-04-13