Mutagenetix > Incidental Mutation

Incidental Mutation 'R0003:Fmnl3'

32352

Institutional Source

Beutler Lab

Gene Symbol

Fmnl3

Ensembl Gene

ENSMUSG00000023008

Gene Name

formin-like 3

Synonyms

2700073B04Rik, Wbp3

MMRRC Submission

038299-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.772) question?

Stock #

R0003 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

99215106-99268363 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 99219013 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 807 (T807A)

Ref Sequence

ENSEMBL: ENSMUSP00000113094 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023745] [ENSMUST00000081224] [ENSMUST00000088233] [ENSMUST00000118287] [ENSMUST00000120633] [ENSMUST00000126955] [ENSMUST00000136980] [ENSMUST00000150636] [ENSMUST00000145482]

AlphaFold

Q6ZPF4

Predicted Effect

probably benign
Transcript: ENSMUST00000023745

SMART Domains

Protein: ENSMUSP00000023745
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	693	776	N/A	INTRINSIC
low complexity region	777	796	N/A	INTRINSIC
low complexity region	809	825	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081224
AA Change: T756A

PolyPhen 2 Score 0.346 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000079984
Gene: ENSMUSG00000023008
AA Change: T756A

Domain	Start	End	E-Value	Type
Drf_GBD	26	227	2.99e-88	SMART
Drf_FH3	230	421	6.1e-71	SMART
low complexity region	448	497	N/A	INTRINSIC
FH2	510	944	9.85e-141	SMART
low complexity region	960	975	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000088233
AA Change: T807A

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085566
Gene: ENSMUSG00000023008
AA Change: T807A

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000118287

SMART Domains

Protein: ENSMUSP00000113282
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	694	777	N/A	INTRINSIC
low complexity region	778	797	N/A	INTRINSIC
low complexity region	810	826	N/A	INTRINSIC
low complexity region	845	866	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000120633
AA Change: T807A

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000113094
Gene: ENSMUSG00000023008
AA Change: T807A

Domain	Start	End	E-Value	Type
Drf_GBD	26	278	3.91e-92	SMART
Drf_FH3	281	472	6.1e-71	SMART
low complexity region	499	548	N/A	INTRINSIC
FH2	561	995	9.85e-141	SMART
low complexity region	1011	1026	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126955

Predicted Effect

probably benign
Transcript: ENSMUST00000134034

SMART Domains

Protein: ENSMUSP00000120030
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
Pfam:FF	11	62	2.2e-7	PFAM
low complexity region	77	92	N/A	INTRINSIC
low complexity region	103	164	N/A	INTRINSIC
low complexity region	165	184	N/A	INTRINSIC
low complexity region	197	213	N/A	INTRINSIC
low complexity region	232	253	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150641

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139767

Predicted Effect

probably benign
Transcript: ENSMUST00000136980

SMART Domains

Protein: ENSMUSP00000122649
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
low complexity region	1	18	N/A	INTRINSIC
low complexity region	22	46	N/A	INTRINSIC
low complexity region	50	81	N/A	INTRINSIC
WW	87	119	7.6e-9	SMART
WW	128	160	1.75e-8	SMART
low complexity region	176	206	N/A	INTRINSIC
low complexity region	249	261	N/A	INTRINSIC
FF	270	324	2.36e-14	SMART
FF	404	464	6.94e-3	SMART
FF	484	544	1.41e0	SMART
FF	613	669	3.41e-11	SMART
low complexity region	681	764	N/A	INTRINSIC
low complexity region	765	784	N/A	INTRINSIC
low complexity region	797	813	N/A	INTRINSIC
low complexity region	832	853	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150636

SMART Domains

Protein: ENSMUSP00000119295
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
Pfam:FF	1	52	1.2e-7	PFAM
low complexity region	67	82	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000145482

SMART Domains

Protein: ENSMUSP00000115869
Gene: ENSMUSG00000023007

Domain	Start	End	E-Value	Type
low complexity region	1	24	N/A	INTRINSIC
low complexity region	28	52	N/A	INTRINSIC
low complexity region	56	87	N/A	INTRINSIC
WW	93	125	7.6e-9	SMART
WW	134	166	1.75e-8	SMART
low complexity region	182	212	N/A	INTRINSIC
low complexity region	255	267	N/A	INTRINSIC
FF	276	330	2.36e-14	SMART
FF	410	470	6.94e-3	SMART
FF	490	550	1.41e0	SMART
low complexity region	557	568	N/A	INTRINSIC
FF	626	682	3.41e-11	SMART
low complexity region	693	708	N/A	INTRINSIC
low complexity region	719	780	N/A	INTRINSIC
low complexity region	781	800	N/A	INTRINSIC
low complexity region	813	829	N/A	INTRINSIC
low complexity region	848	869	N/A	INTRINSIC

Meta Mutation Damage Score

0.9057

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.7%

Validation Efficiency

94% (82/87)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene contains a formin homology 2 domain and has high sequence identity to the mouse Wbp3 protein. Two alternative transcripts encoding different isoforms have been described. [provided by RefSeq, Jul 2008]

Allele List at MGI

All alleles(2) : Targeted, other(2)

Other mutations in this stock

Total: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam19	T	A	11: 46,019,616 (GRCm39)	C439S	probably damaging	Het
Adnp2	T	C	18: 80,174,205 (GRCm39)	Y68C	probably damaging	Het
Ahctf1	A	T	1: 179,591,038 (GRCm39)	D1247E	probably benign	Het
Alms1	T	A	6: 85,606,192 (GRCm39)	M2614K	possibly damaging	Het
Alx3	A	G	3: 107,512,292 (GRCm39)	H310R	probably damaging	Het
Ambra1	C	T	2: 91,741,773 (GRCm39)	T1016M	probably damaging	Het
Ankrd35	A	G	3: 96,591,331 (GRCm39)	E539G	probably damaging	Het
Aptx	A	G	4: 40,695,145 (GRCm39)		probably benign	Het
Arsi	C	T	18: 61,050,058 (GRCm39)	R314C	probably benign	Het
Atp1a3	T	C	7: 24,688,989 (GRCm39)		probably benign	Het
Avl9	G	T	6: 56,713,468 (GRCm39)	R242L	probably benign	Het
Bicra	G	T	7: 15,705,812 (GRCm39)	T1543K	probably benign	Het
Bltp2	T	A	11: 78,177,404 (GRCm39)	V1903E	possibly damaging	Het
Bzw2	A	C	12: 36,180,014 (GRCm39)	I71S	probably damaging	Het
Camk2a	C	T	18: 61,093,079 (GRCm39)	A302V	probably damaging	Het
Ccdc12	A	G	9: 110,485,665 (GRCm39)	E12G	possibly damaging	Het
Cd300lb	A	T	11: 114,819,164 (GRCm39)	F19Y	probably benign	Het
Clcn3	A	T	8: 61,380,330 (GRCm39)	C535*	probably null	Het
Cntnap5c	A	G	17: 58,506,012 (GRCm39)	T679A	probably benign	Het
Cpsf7	G	A	19: 10,516,993 (GRCm39)	S365N	possibly damaging	Het
Cspg4b	T	A	13: 113,505,310 (GRCm39)	S2146R	probably benign	Het
Cyp20a1	T	C	1: 60,426,285 (GRCm39)		probably benign	Het
Decr2	A	T	17: 26,302,027 (GRCm39)	N234K	probably benign	Het
Def8	G	A	8: 124,183,234 (GRCm39)	A278T	probably damaging	Het
Dnah12	T	C	14: 26,494,601 (GRCm39)	F1300L	probably damaging	Het
Dock1	T	C	7: 134,331,793 (GRCm39)		probably benign	Het
Dpy19l4	A	T	4: 11,267,619 (GRCm39)	N440K	probably damaging	Het
Eprs1	T	C	1: 185,146,588 (GRCm39)	V1206A	probably damaging	Het
Exoc6b	A	G	6: 84,831,681 (GRCm39)		probably null	Het
Fam184b	A	G	5: 45,712,536 (GRCm39)		probably benign	Het
Fcho1	A	T	8: 72,161,597 (GRCm39)	S858T	probably damaging	Het
Fgfr1	A	G	8: 26,058,214 (GRCm39)	D430G	possibly damaging	Het
Gabra5	T	C	7: 57,063,476 (GRCm39)	Y316C	probably damaging	Het
Gh	A	G	11: 106,192,346 (GRCm39)	L16P	probably damaging	Het
Glipr2	A	T	4: 43,970,532 (GRCm39)	I87F	probably damaging	Het
Glrb	T	A	3: 80,763,221 (GRCm39)	I259F	probably damaging	Het
Gpr63	T	C	4: 25,007,651 (GRCm39)	L125P	probably damaging	Het
Grb2	A	G	11: 115,546,251 (GRCm39)	Y37H	probably damaging	Het
Haus2	G	A	2: 120,449,449 (GRCm39)		probably benign	Het
Hmgcr	T	C	13: 96,788,653 (GRCm39)	N749S	probably damaging	Het
Igf1r	T	C	7: 67,814,990 (GRCm39)	V297A	probably damaging	Het
Il12rb2	G	T	6: 67,293,270 (GRCm39)	P69H	probably damaging	Het
Ints3	C	A	3: 90,315,818 (GRCm39)	M315I	probably benign	Het
Izumo2	C	T	7: 44,364,833 (GRCm39)	T116I	probably benign	Het
Kctd19	A	C	8: 106,121,993 (GRCm39)	Y185D	probably damaging	Het
Lama4	A	G	10: 38,936,218 (GRCm39)	N631S	possibly damaging	Het
Lama5	T	G	2: 179,819,872 (GRCm39)		probably null	Het
Lamc1	A	C	1: 153,138,185 (GRCm39)	L223R	probably damaging	Het
Lgr4	G	A	2: 109,828,010 (GRCm39)		probably null	Het
Loxhd1	T	C	18: 77,427,196 (GRCm39)	L398P	probably damaging	Het
Mapk9	T	A	11: 49,757,866 (GRCm39)	D103E	possibly damaging	Het
Marchf6	T	C	15: 31,469,678 (GRCm39)		probably benign	Het
Mlxipl	G	A	5: 135,162,043 (GRCm39)		probably benign	Het
Mrgbp	C	A	2: 180,225,231 (GRCm39)	D62E	probably benign	Het
Mtap	A	T	4: 89,070,235 (GRCm39)		probably benign	Het
Myt1	G	A	2: 181,443,664 (GRCm39)	G497S	probably damaging	Het
Naa25	T	G	5: 121,545,247 (GRCm39)		probably benign	Het
Nfat5	C	T	8: 108,065,707 (GRCm39)	R156W	probably damaging	Het
Nkpd1	T	C	7: 19,253,852 (GRCm39)	C73R	probably benign	Het
Nup210l	T	C	3: 90,027,218 (GRCm39)	I200T	probably damaging	Het
Nvl	C	A	1: 180,941,698 (GRCm39)	D581Y	probably damaging	Het
Or51a6	T	C	7: 102,604,185 (GRCm39)	M208V	probably benign	Het
Or51f2	T	C	7: 102,527,068 (GRCm39)	V247A	probably benign	Het
Or5t17	T	A	2: 86,832,710 (GRCm39)	Y132*	probably null	Het
Or8b1c	A	G	9: 38,384,612 (GRCm39)	T190A	probably benign	Het
Or9q1	T	C	19: 13,805,050 (GRCm39)	T237A	probably damaging	Het
Pcdh7	G	T	5: 58,070,590 (GRCm39)	E1089D	probably benign	Het
Pik3cd	A	G	4: 149,740,836 (GRCm39)		probably null	Het
Plekhh2	A	T	17: 84,864,820 (GRCm39)	K69N	probably damaging	Het
Ptgdr2	G	A	19: 10,917,792 (GRCm39)	C103Y	probably damaging	Het
Rrad	A	C	8: 105,355,299 (GRCm39)	H236Q	probably benign	Het
Rslcan18	C	T	13: 67,246,533 (GRCm39)	A236T	probably benign	Het
Ryr2	C	A	13: 11,839,265 (GRCm39)	D503Y	probably damaging	Het
Siglec1	T	C	2: 130,916,980 (GRCm39)	T1092A	probably benign	Het
Siglecf	A	G	7: 43,005,350 (GRCm39)	T437A	probably benign	Het
Spta1	A	T	1: 174,032,839 (GRCm39)	Q965H	probably damaging	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tfg	T	C	16: 56,511,351 (GRCm39)	Y326C	possibly damaging	Het
Tpp2	T	A	1: 43,999,299 (GRCm39)	S358T	possibly damaging	Het
Trim25	G	T	11: 88,906,598 (GRCm39)	V437L	probably benign	Het
Ttn	T	C	2: 76,574,027 (GRCm39)	D25622G	probably damaging	Het
Ube3b	T	A	5: 114,536,912 (GRCm39)	S303R	probably benign	Het
Ush2a	T	A	1: 188,310,688 (GRCm39)	V2088D	probably damaging	Het
Vmn2r103	A	G	17: 20,032,241 (GRCm39)	T672A	probably damaging	Het
Wdr11	G	T	7: 129,200,785 (GRCm39)	G79C	probably damaging	Het
Wdr89	T	A	12: 75,679,367 (GRCm39)	T296S	probably benign	Het
Zdhhc24	T	A	19: 4,930,402 (GRCm39)	L179M	possibly damaging	Het
Zfp981	T	C	4: 146,622,217 (GRCm39)	C381R	probably damaging	Het
Zim1	A	G	7: 6,679,947 (GRCm39)	I572T	probably benign	Het

Other mutations in Fmnl3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00648:Fmnl3	APN	15	99,220,551 (GRCm39)	missense	probably damaging	1.00
IGL00672:Fmnl3	APN	15	99,223,562 (GRCm39)	missense	probably damaging	1.00
IGL00727:Fmnl3	APN	15	99,220,551 (GRCm39)	missense	probably damaging	1.00
IGL00754:Fmnl3	APN	15	99,220,551 (GRCm39)	missense	probably damaging	1.00
IGL00927:Fmnl3	APN	15	99,235,509 (GRCm39)	critical splice donor site	probably null
IGL02376:Fmnl3	APN	15	99,216,844 (GRCm39)	missense	possibly damaging	0.51
IGL02607:Fmnl3	APN	15	99,222,653 (GRCm39)	missense	probably damaging	1.00
IGL03323:Fmnl3	APN	15	99,219,162 (GRCm39)	missense	probably damaging	1.00
C9142:Fmnl3	UTSW	15	99,235,508 (GRCm39)	splice site	probably null
PIT4280001:Fmnl3	UTSW	15	99,219,134 (GRCm39)	critical splice donor site	probably null
R0003:Fmnl3	UTSW	15	99,219,013 (GRCm39)	missense	probably damaging	0.99
R0116:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0117:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0137:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0138:Fmnl3	UTSW	15	99,220,619 (GRCm39)	splice site	probably benign
R0701:Fmnl3	UTSW	15	99,219,188 (GRCm39)	missense	probably damaging	0.99
R2338:Fmnl3	UTSW	15	99,268,108 (GRCm39)	missense	probably benign	0.01
R3729:Fmnl3	UTSW	15	99,219,745 (GRCm39)	missense	probably damaging	0.99
R4707:Fmnl3	UTSW	15	99,221,362 (GRCm39)	missense	probably benign	0.00
R5346:Fmnl3	UTSW	15	99,229,871 (GRCm39)	missense	probably damaging	1.00
R5655:Fmnl3	UTSW	15	99,219,743 (GRCm39)	missense	probably damaging	0.99
R5916:Fmnl3	UTSW	15	99,219,709 (GRCm39)	missense	probably damaging	0.99
R5951:Fmnl3	UTSW	15	99,223,791 (GRCm39)	missense	probably damaging	1.00
R5954:Fmnl3	UTSW	15	99,223,791 (GRCm39)	missense	probably damaging	1.00
R5957:Fmnl3	UTSW	15	99,223,791 (GRCm39)	missense	probably damaging	1.00
R6334:Fmnl3	UTSW	15	99,235,534 (GRCm39)	missense	probably damaging	1.00
R6891:Fmnl3	UTSW	15	99,223,754 (GRCm39)	missense	probably damaging	1.00
R7182:Fmnl3	UTSW	15	99,219,663 (GRCm39)	missense	probably damaging	0.99
R7423:Fmnl3	UTSW	15	99,227,281 (GRCm39)	missense	probably damaging	0.99
R7952:Fmnl3	UTSW	15	99,220,518 (GRCm39)	missense	probably damaging	0.97
R7977:Fmnl3	UTSW	15	99,225,979 (GRCm39)	missense	possibly damaging	0.89
R7987:Fmnl3	UTSW	15	99,225,979 (GRCm39)	missense	possibly damaging	0.89
R8749:Fmnl3	UTSW	15	99,219,322 (GRCm39)	missense	possibly damaging	0.88
R9397:Fmnl3	UTSW	15	99,225,938 (GRCm39)	critical splice donor site	probably null
R9598:Fmnl3	UTSW	15	99,223,210 (GRCm39)	missense	probably damaging	1.00
X0009:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0010:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0011:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0012:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0014:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0017:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0021:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99,223,165 (GRCm39)	missense	probably damaging	1.00
X0023:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0028:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0033:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0060:Fmnl3	UTSW	15	99,217,919 (GRCm39)	missense	possibly damaging	0.69
X0064:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00
X0067:Fmnl3	UTSW	15	99,220,208 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGAGCACATGGAAGGCTCAC -3'
(R):5'- ACAGATCATCCTTGCATTGGGGAAC -3'

Sequencing Primer
(F):5'- GCCCCTGCTCATAGATTTAGTAGTG -3'
(R):5'- CTTGCATTGGGGAACTACATGAAC -3'

Posted On

2013-05-09