Mutagenetix > Incidental Mutation

Incidental Mutation 'R6137:Fancm'

488422

Institutional Source

Beutler Lab

Gene Symbol

Fancm

Ensembl Gene

ENSMUSG00000055884

Gene Name

Fanconi anemia, complementation group M

Synonyms

D12Ertd364e, C730036B14Rik

MMRRC Submission

044284-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.911) question?

Stock #

R6137 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

65122377-65178832 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 65177156 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 2000 (L2000P)

Ref Sequence

ENSEMBL: ENSMUSP00000054797 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000052201] [ENSMUST00000058889] [ENSMUST00000222540]

AlphaFold

Q8BGE5

Predicted Effect

probably benign
Transcript: ENSMUST00000052201

SMART Domains

Protein: ENSMUSP00000052109
Gene: ENSMUSG00000047534

Domain	Start	End	E-Value	Type
low complexity region	319	332	N/A	INTRINSIC
Pfam:SANTA	336	425	1.4e-27	PFAM
coiled coil region	428	448	N/A	INTRINSIC
coiled coil region	645	668	N/A	INTRINSIC
SANT	742	794	9.48e-6	SMART
low complexity region	874	884	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000058889
AA Change: L2000P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000054797
Gene: ENSMUSG00000055884
AA Change: L2000P

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

noncoding transcript
Transcript: ENSMUST00000140391

Predicted Effect

probably benign
Transcript: ENSMUST00000221175

Predicted Effect

probably benign
Transcript: ENSMUST00000222540

Meta Mutation Damage Score

0.7795

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.3%

Validation Efficiency

98% (58/59)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310057M21Rik	G	T	7: 130,959,342 (GRCm39)	H165Q	probably damaging	Het
Akap13	T	A	7: 75,327,164 (GRCm39)	F721Y	probably damaging	Het
Akap6	A	T	12: 53,187,137 (GRCm39)	D1517V	probably damaging	Het
Amigo3	T	A	9: 107,930,927 (GRCm39)	S117T	probably damaging	Het
Atf7ip2	T	A	16: 10,019,275 (GRCm39)	N34K	probably damaging	Het
Cacnb1	A	C	11: 97,896,608 (GRCm39)	V351G	probably damaging	Het
Casp9	T	A	4: 141,532,660 (GRCm39)		probably null	Het
Ccdc51	C	T	9: 108,918,483 (GRCm39)	T24I	probably benign	Het
Cdh23	T	A	10: 60,270,291 (GRCm39)	Y618F	probably damaging	Het
Chd1	T	A	17: 15,978,950 (GRCm39)	W1271R	probably damaging	Het
Dars1	T	C	1: 128,296,176 (GRCm39)	T386A	probably benign	Het
Dchs1	T	A	7: 105,414,313 (GRCm39)	D834V	probably damaging	Het
Dgkd	T	A	1: 87,864,103 (GRCm39)	V933E	possibly damaging	Het
Dnah17	A	G	11: 117,916,480 (GRCm39)	F4203S	probably damaging	Het
Fbxo11	A	T	17: 88,316,097 (GRCm39)	H444Q	probably benign	Het
Fbxw14	T	A	9: 109,105,290 (GRCm39)	T292S	probably damaging	Het
Fer1l6	T	C	15: 58,431,055 (GRCm39)	S237P	probably damaging	Het
Frem3	T	C	8: 81,341,676 (GRCm39)	I1323T	probably benign	Het
Grin2a	A	G	16: 9,471,313 (GRCm39)	F652L	probably benign	Het
Grin2b	T	A	6: 135,900,456 (GRCm39)	M142L	possibly damaging	Het
Helz	A	G	11: 107,509,886 (GRCm39)	Q503R	possibly damaging	Het
Ighv5-17	A	G	12: 113,822,915 (GRCm39)	Y69H	probably benign	Het
Il17ra	A	G	6: 120,452,543 (GRCm39)	N242S	probably benign	Het
Immp1l	G	C	2: 105,794,553 (GRCm39)	G117A	probably damaging	Het
Itm2c	T	C	1: 85,822,413 (GRCm39)	V10A	probably benign	Het
Kif1b	T	C	4: 149,322,883 (GRCm39)	K679E	possibly damaging	Het
Kng1	T	C	16: 22,893,395 (GRCm39)	V256A	possibly damaging	Het
Lamc2	T	G	1: 153,041,899 (GRCm39)	R78S	possibly damaging	Het
Loxl4	A	G	19: 42,587,232 (GRCm39)	F621S	probably damaging	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lypd3	T	C	7: 24,339,919 (GRCm39)	Y329H	probably benign	Het
Mettl13	T	C	1: 162,363,455 (GRCm39)	D225G	probably benign	Het
Myo7b	A	G	18: 32,133,027 (GRCm39)	F441L	probably damaging	Het
Nnt	T	A	13: 119,472,864 (GRCm39)	M699L	possibly damaging	Het
Nr1h3	A	T	2: 91,022,196 (GRCm39)	M144K	probably damaging	Het
Or2t46	A	T	11: 58,471,894 (GRCm39)	M75L	probably benign	Het
Or5al6	A	G	2: 85,976,313 (GRCm39)	V255A	probably benign	Het
Or6z6	T	C	7: 6,491,844 (GRCm39)	T3A	probably benign	Het
Pappa2	A	T	1: 158,699,113 (GRCm39)	Y667N	probably damaging	Het
Prps1l3	A	G	12: 57,285,674 (GRCm39)	I155V	probably benign	Het
Ptgs2	T	A	1: 149,976,744 (GRCm39)	N24K	probably benign	Het
Ralgds	A	T	2: 28,437,600 (GRCm39)	M514L	probably damaging	Het
Rbm47	G	C	5: 66,183,626 (GRCm39)	R326G	probably damaging	Het
Sacm1l	T	A	9: 123,398,070 (GRCm39)	V254D	probably damaging	Het
Selenot	A	T	3: 58,492,705 (GRCm39)	Q64L	probably damaging	Het
Sgsm2	G	A	11: 74,741,677 (GRCm39)	R1037W	probably damaging	Het
Slc22a12	A	G	19: 6,592,754 (GRCm39)	V10A	probably benign	Het
Spem2	G	T	11: 69,707,522 (GRCm39)	S481*	probably null	Het
Styk1	C	T	6: 131,287,979 (GRCm39)	G128D	probably damaging	Het
Tex54	A	T	19: 8,718,148 (GRCm39)	D6V	probably damaging	Het
Tmc6	A	T	11: 117,667,154 (GRCm39)	L148Q	probably damaging	Het
Tmem138	A	C	19: 10,552,199 (GRCm39)		probably null	Het
Tnpo3	A	G	6: 29,555,267 (GRCm39)	V772A	probably benign	Het
Topaz1	T	C	9: 122,626,821 (GRCm39)	F1483S	possibly damaging	Het
Tuba4a	C	A	1: 75,192,699 (GRCm39)	C305F	probably damaging	Het
Ubap1	T	G	4: 41,379,262 (GRCm39)	F159V	possibly damaging	Het
Vmn2r9	A	G	5: 108,996,882 (GRCm39)	I129T	probably benign	Het
Wwc2	A	T	8: 48,309,298 (GRCm39)	M828K	unknown	Het
Zfp236	A	T	18: 82,689,919 (GRCm39)	S187T	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
R1559:Fancm	UTSW	12	65,140,463 (GRCm39)	missense	probably benign	0.00
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
R6167:Fancm	UTSW	12	65,141,669 (GRCm39)	missense	probably benign	0.42
R6242:Fancm	UTSW	12	65,163,223 (GRCm39)	missense	probably benign	0.00
R6242:Fancm	UTSW	12	65,163,216 (GRCm39)	missense	probably benign	0.01
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'- TGCATCTCTATCATGAGCCAG -3'
(R):5'- AGTTTGTTTCACGGTCCAATC -3'

Sequencing Primer
(F):5'- GCTCCCCTGAAGAAATCT -3'
(R):5'- CACGGTCCAATCAAAATGATTATGG -3'

Posted On

2017-10-10