Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00960:Fmnl2'

26970

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fmnl2

Ensembl Gene

ENSMUSG00000036053

Gene Name

formin-like 2

Synonyms

man, 5430425K04Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00960

Quality Score

Status

Chromosome

Chromosomal Location

52747872-53023816 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53013494 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 951 (D951G)

Ref Sequence

ENSEMBL: ENSMUSP00000047260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000049483] [ENSMUST00000050719] [ENSMUST00000090952] [ENSMUST00000127122] [ENSMUST00000134459] [ENSMUST00000155586]

AlphaFold

A2APV2

Predicted Effect

probably damaging
Transcript: ENSMUST00000049483
AA Change: D951G

PolyPhen 2 Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000047260
Gene: ENSMUSG00000036053
AA Change: D951G

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	8e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000050719
AA Change: D917G

PolyPhen 2 Score 0.522 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000057084
Gene: ENSMUSG00000036053
AA Change: D917G

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
low complexity region	549	568	N/A	INTRINSIC
FH2	581	1018	1.66e-124	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000090952
AA Change: D951G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000088472
Gene: ENSMUSG00000036053
AA Change: D951G

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	6e-3	SMART
FH2	615	1052	1.66e-124	SMART
low complexity region	1063	1075	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000127122
AA Change: D951G

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000118658
Gene: ENSMUSG00000036053
AA Change: D951G

Domain	Start	End	E-Value	Type
Drf_GBD	23	275	1.19e-96	SMART
Drf_FH3	278	482	8.68e-76	SMART
low complexity region	518	540	N/A	INTRINSIC
SCOP:d1jvr__	549	588	7e-3	SMART
FH2	615	1052	1.66e-124	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000134459

SMART Domains

Protein: ENSMUSP00000114995
Gene: ENSMUSG00000036053

Domain	Start	End	E-Value	Type
Blast:FH2	1	68	1e-37	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000155586
AA Change: D951G

PolyPhen 2 Score 0.055 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000117822
Gene: ENSMUSG00000036053
AA Change: D951G

Domain	Start	End	E-Value	Type
Pfam:FH2	1	131	2e-33	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a formin-related protein. Formin-related proteins have been implicated in morphogenesis, cytokinesis, and cell polarity. Alternatively spliced transcript variants encoding different isoforms have been described but their full-length nature has yet to be determined. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc10	C	A	17: 46,634,671 (GRCm39)	R444L	probably damaging	Het
Baiap2	T	A	11: 119,890,118 (GRCm39)	S460T	possibly damaging	Het
Cckar	A	G	5: 53,858,634 (GRCm39)	Y158H	probably damaging	Het
Cdk4	A	G	10: 126,900,166 (GRCm39)	Y21C	probably damaging	Het
Entpd1	C	T	19: 40,699,714 (GRCm39)	P42S	probably benign	Het
Epha8	A	T	4: 136,679,150 (GRCm39)		probably null	Het
Fastkd1	A	T	2: 69,524,997 (GRCm39)		probably benign	Het
Hnrnpm	C	A	17: 33,868,876 (GRCm39)	R517L	probably damaging	Het
Kcnj5	T	A	9: 32,233,719 (GRCm39)	T199S	probably damaging	Het
Med13	T	C	11: 86,181,866 (GRCm39)		probably benign	Het
Mycbp2	G	T	14: 103,466,820 (GRCm39)	H1314Q	possibly damaging	Het
Ncapd2	A	T	6: 125,150,811 (GRCm39)	S795T	probably benign	Het
Nf1	T	C	11: 79,335,947 (GRCm39)	S1042P	probably damaging	Het
Nlgn1	C	A	3: 25,966,861 (GRCm39)	L197F	probably damaging	Het
Nsun7	A	G	5: 66,446,846 (GRCm39)	Y428C	probably benign	Het
Or10d5j	A	G	9: 39,867,455 (GRCm39)	Y259H	probably damaging	Het
Parp14	T	C	16: 35,661,589 (GRCm39)	D1453G	probably benign	Het
Pcdhb8	A	T	18: 37,489,026 (GRCm39)	I235F	probably benign	Het
Pclo	T	C	5: 14,725,234 (GRCm39)	V1364A	unknown	Het
Polq	T	C	16: 36,880,874 (GRCm39)	S734P	probably damaging	Het
Sco1	T	C	11: 66,954,864 (GRCm39)	*290Q	probably null	Het
Slc22a3	A	T	17: 12,644,497 (GRCm39)	I496N	probably damaging	Het
Slc5a8	T	G	10: 88,757,627 (GRCm39)	I539S	probably benign	Het
Tecta	A	G	9: 42,270,376 (GRCm39)	F1311L	possibly damaging	Het
Tex261	A	T	6: 83,752,650 (GRCm39)	I19N	possibly damaging	Het
Tfr2	T	C	5: 137,569,954 (GRCm39)	V120A	probably benign	Het
Vmn2r71	A	T	7: 85,273,582 (GRCm39)	S799C	probably damaging	Het
Zar1	G	A	5: 72,734,628 (GRCm39)	T197I	probably damaging	Het
Zfa-ps	A	G	10: 52,420,043 (GRCm39)		noncoding transcript	Het

Other mutations in Fmnl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00401:Fmnl2	APN	2	53,004,929 (GRCm39)	missense	probably damaging	1.00
IGL01343:Fmnl2	APN	2	53,013,557 (GRCm39)	missense	probably damaging	1.00
IGL01790:Fmnl2	APN	2	53,008,380 (GRCm39)	missense	probably damaging	1.00
IGL02555:Fmnl2	APN	2	53,016,863 (GRCm39)	critical splice acceptor site	probably null
IGL02613:Fmnl2	APN	2	52,963,747 (GRCm39)	critical splice donor site	probably null
IGL02712:Fmnl2	APN	2	52,926,510 (GRCm39)	splice site	probably benign
IGL02715:Fmnl2	APN	2	52,962,222 (GRCm39)	missense	possibly damaging	0.93
IGL02750:Fmnl2	APN	2	52,993,709 (GRCm39)	missense	possibly damaging	0.95
IGL02832:Fmnl2	APN	2	52,748,261 (GRCm39)	missense	possibly damaging	0.90
IGL02975:Fmnl2	APN	2	52,991,494 (GRCm39)	missense	probably benign	0.45
Beefeater	UTSW	2	52,963,666 (GRCm39)	missense	unknown
waterloo	UTSW	2	52,904,860 (GRCm39)	missense	probably damaging	1.00
PIT4280001:Fmnl2	UTSW	2	53,008,208 (GRCm39)	missense	unknown
R0529:Fmnl2	UTSW	2	52,932,377 (GRCm39)	missense	probably damaging	1.00
R0571:Fmnl2	UTSW	2	52,944,503 (GRCm39)	missense	probably benign	0.01
R0707:Fmnl2	UTSW	2	52,944,498 (GRCm39)	missense	possibly damaging	0.85
R1172:Fmnl2	UTSW	2	52,962,286 (GRCm39)	missense	probably damaging	1.00
R1473:Fmnl2	UTSW	2	52,748,219 (GRCm39)	missense	possibly damaging	0.53
R1533:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1536:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1537:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1547:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1548:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1549:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1604:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1608:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R1615:Fmnl2	UTSW	2	53,008,436 (GRCm39)	missense	probably damaging	1.00
R1792:Fmnl2	UTSW	2	52,932,329 (GRCm39)	missense	possibly damaging	0.79
R1965:Fmnl2	UTSW	2	53,004,880 (GRCm39)	missense	probably damaging	1.00
R1970:Fmnl2	UTSW	2	52,995,588 (GRCm39)	missense	possibly damaging	0.93
R2012:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2065:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2111:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2112:Fmnl2	UTSW	2	52,995,549 (GRCm39)	missense	probably damaging	1.00
R2427:Fmnl2	UTSW	2	53,006,991 (GRCm39)	missense	probably damaging	0.96
R4084:Fmnl2	UTSW	2	52,997,507 (GRCm39)	missense	possibly damaging	0.96
R4095:Fmnl2	UTSW	2	52,991,535 (GRCm39)	missense	probably damaging	0.99
R4607:Fmnl2	UTSW	2	52,993,728 (GRCm39)	missense	possibly damaging	0.94
R4608:Fmnl2	UTSW	2	52,993,728 (GRCm39)	missense	possibly damaging	0.94
R4720:Fmnl2	UTSW	2	52,997,552 (GRCm39)	missense	possibly damaging	0.96
R4731:Fmnl2	UTSW	2	53,007,081 (GRCm39)	missense	possibly damaging	0.95
R4947:Fmnl2	UTSW	2	52,963,722 (GRCm39)	missense	probably benign	0.32
R5015:Fmnl2	UTSW	2	52,993,773 (GRCm39)	missense	possibly damaging	0.85
R5402:Fmnl2	UTSW	2	53,018,794 (GRCm39)	missense	probably damaging	0.97
R5731:Fmnl2	UTSW	2	53,008,149 (GRCm39)	splice site	probably null
R5766:Fmnl2	UTSW	2	52,991,466 (GRCm39)	missense	probably damaging	1.00
R5945:Fmnl2	UTSW	2	53,004,211 (GRCm39)	missense	probably damaging	0.99
R6093:Fmnl2	UTSW	2	53,004,880 (GRCm39)	missense	probably damaging	1.00
R6210:Fmnl2	UTSW	2	53,020,457 (GRCm39)	missense	possibly damaging	0.94
R6287:Fmnl2	UTSW	2	52,904,860 (GRCm39)	missense	probably damaging	1.00
R6661:Fmnl2	UTSW	2	52,998,297 (GRCm39)	missense	probably damaging	0.98
R6967:Fmnl2	UTSW	2	52,987,344 (GRCm39)	missense	possibly damaging	0.88
R7006:Fmnl2	UTSW	2	52,998,266 (GRCm39)	missense	probably benign	0.27
R7146:Fmnl2	UTSW	2	52,958,552 (GRCm39)	missense
R7173:Fmnl2	UTSW	2	53,004,202 (GRCm39)	missense	unknown
R7176:Fmnl2	UTSW	2	53,004,162 (GRCm39)	missense	unknown
R7182:Fmnl2	UTSW	2	52,997,453 (GRCm39)	missense	unknown
R7201:Fmnl2	UTSW	2	52,963,666 (GRCm39)	missense	unknown
R7470:Fmnl2	UTSW	2	52,932,377 (GRCm39)	missense	probably damaging	1.00
R7481:Fmnl2	UTSW	2	52,998,443 (GRCm39)	missense	unknown
R7691:Fmnl2	UTSW	2	52,991,510 (GRCm39)	missense	unknown
R7699:Fmnl2	UTSW	2	52,926,520 (GRCm39)	missense
R7700:Fmnl2	UTSW	2	52,926,520 (GRCm39)	missense
R7722:Fmnl2	UTSW	2	52,944,479 (GRCm39)	missense
R7775:Fmnl2	UTSW	2	52,963,692 (GRCm39)	missense	unknown
R7824:Fmnl2	UTSW	2	52,963,692 (GRCm39)	missense	unknown
R8282:Fmnl2	UTSW	2	52,997,678 (GRCm39)	critical splice donor site	probably null
R8774:Fmnl2	UTSW	2	52,932,321 (GRCm39)	missense
R8774-TAIL:Fmnl2	UTSW	2	52,932,321 (GRCm39)	missense
R8816:Fmnl2	UTSW	2	53,004,214 (GRCm39)	missense	unknown
R8832:Fmnl2	UTSW	2	52,944,584 (GRCm39)	missense
R8868:Fmnl2	UTSW	2	53,016,077 (GRCm39)	missense	unknown
R8990:Fmnl2	UTSW	2	53,016,971 (GRCm39)	missense	unknown
R9412:Fmnl2	UTSW	2	53,007,016 (GRCm39)	missense	unknown
R9502:Fmnl2	UTSW	2	52,998,312 (GRCm39)	missense	unknown
R9532:Fmnl2	UTSW	2	53,006,941 (GRCm39)	missense	unknown
R9602:Fmnl2	UTSW	2	53,013,587 (GRCm39)	critical splice donor site	probably null
R9760:Fmnl2	UTSW	2	52,944,527 (GRCm39)	missense
Z1188:Fmnl2	UTSW	2	53,004,883 (GRCm39)	missense	unknown

Posted On

2013-04-17