Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03058:Fem1al'

409350

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fem1al

Ensembl Gene

ENSMUSG00000078157

Gene Name

fem-1 homolog A like

Synonyms

4931440F15Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.112) question?

Stock #

IGL03058

Quality Score

Status

Chromosome

Chromosomal Location

29772395-29775668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29774656 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 267 (D267G)

Ref Sequence

ENSEMBL: ENSMUSP00000100568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058902] [ENSMUST00000104962]

AlphaFold

Q8C0T1

Predicted Effect

probably benign
Transcript: ENSMUST00000058902

SMART Domains

Protein: ENSMUSP00000051080
Gene: ENSMUSG00000044072

Domain	Start	End	E-Value	Type
low complexity region	36	47	N/A	INTRINSIC
WD40	49	91	1.79e-1	SMART
WD40	94	136	1.42e-4	SMART
WD40	139	178	5.31e-4	SMART
WD40	184	224	8.84e1	SMART
WD40	225	263	3.75e-4	SMART
WD40	313	353	4.69e-5	SMART
WD40	356	394	2.22e0	SMART
WD40	397	436	1.72e0	SMART
WD40	505	546	1.7e2	SMART
WD40	552	592	4.55e-3	SMART
low complexity region	613	625	N/A	INTRINSIC
Pfam:HELP	653	715	1.9e-22	PFAM
WD40	716	757	9.24e-1	SMART
WD40	760	802	6.53e-4	SMART
WD40	805	844	2.98e-1	SMART
WD40	856	891	8.52e1	SMART
WD40	892	929	2.09e-2	SMART
WD40	986	1026	1.18e-1	SMART
WD40	1032	1068	3.44e0	SMART
WD40	1071	1111	2.58e-1	SMART
WD40	1180	1221	9.24e-1	SMART
WD40	1227	1267	3.85e-1	SMART
low complexity region	1280	1291	N/A	INTRINSIC
Pfam:HELP	1329	1402	5e-15	PFAM
WD40	1404	1447	2.66e0	SMART
WD40	1450	1492	1.85e0	SMART
WD40	1495	1534	2.97e0	SMART
WD40	1543	1582	7.1e1	SMART
WD40	1584	1629	9.51e1	SMART
WD40	1675	1715	3.05e-4	SMART
WD40	1718	1758	8.84e1	SMART
WD40	1759	1798	7.16e-1	SMART
WD40	1869	1910	1.53e1	SMART
WD40	1916	1956	4.62e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000104962
AA Change: D267G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: D267G

Domain	Start	End	E-Value	Type
ANK	19	50	1.53e3	SMART
ANK	57	87	1.7e-3	SMART
ANK	99	128	3.6e-2	SMART
ANK	132	162	3.31e-1	SMART
ANK	166	195	8.19e-6	SMART
ANK	199	228	7.83e-3	SMART
ANK	231	260	1.8e-2	SMART
low complexity region	297	306	N/A	INTRINSIC
low complexity region	434	445	N/A	INTRINSIC
low complexity region	496	507	N/A	INTRINSIC
ANK	536	578	8.39e-3	SMART
ANK	582	611	3.91e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109452

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	A	G	5: 105,109,112 (GRCm39)	V395A	probably benign	Het
Adck1	A	T	12: 88,425,900 (GRCm39)	T443S	probably benign	Het
Axdnd1	G	A	1: 156,204,233 (GRCm39)	A541V	probably benign	Het
B020011L13Rik	A	G	1: 117,710,699 (GRCm39)	D35G	possibly damaging	Het
Bmp3	T	G	5: 99,019,953 (GRCm39)	I125M	probably damaging	Het
Cdc40	T	C	10: 40,725,824 (GRCm39)	E215G	probably benign	Het
Ces1f	A	G	8: 93,996,600 (GRCm39)		probably null	Het
Chd8	A	C	14: 52,455,730 (GRCm39)	V986G	probably damaging	Het
Clca4a	A	T	3: 144,667,595 (GRCm39)		probably benign	Het
Crhbp	T	A	13: 95,580,306 (GRCm39)	E91V	probably damaging	Het
Dgkh	T	A	14: 78,865,237 (GRCm39)	H53L	probably benign	Het
Dnajc1	T	C	2: 18,222,132 (GRCm39)	D532G	possibly damaging	Het
Dot1l	T	C	10: 80,626,831 (GRCm39)	S230P	probably benign	Het
Evi5	C	T	5: 107,896,017 (GRCm39)	V809M	probably damaging	Het
Fbn1	T	A	2: 125,245,120 (GRCm39)	M256L	probably benign	Het
Fgfr2	C	T	7: 129,784,422 (GRCm39)	D292N	probably damaging	Het
Fmn1	C	T	2: 113,272,159 (GRCm39)		probably benign	Het
Htatsf1	T	A	X: 56,104,281 (GRCm39)	D203E	probably damaging	Het
Kcnh1	T	A	1: 192,117,199 (GRCm39)	L51Q	probably damaging	Het
Lamp5	A	T	2: 135,911,047 (GRCm39)	H260L	probably benign	Het
Mindy4	T	A	6: 55,285,183 (GRCm39)	V659D	probably damaging	Het
Mkks	C	A	2: 136,718,090 (GRCm39)	L397F	probably damaging	Het
Ncan	G	A	8: 70,560,582 (GRCm39)	S795F	possibly damaging	Het
Or13c7d	A	C	4: 43,770,255 (GRCm39)	F252C	probably damaging	Het
Or9g4	T	C	2: 85,505,025 (GRCm39)	I157V	probably benign	Het
Papolg	T	C	11: 23,845,029 (GRCm39)	M4V	probably benign	Het
Pdk3	A	T	X: 92,845,892 (GRCm39)	I143N	probably benign	Het
Polr2a	A	T	11: 69,635,873 (GRCm39)		probably null	Het
Prc1	C	T	7: 79,950,873 (GRCm39)	T78I	probably benign	Het
Ret	C	A	6: 118,152,028 (GRCm39)	D569Y	probably damaging	Het
Samd9l	G	T	6: 3,374,980 (GRCm39)	N760K	probably damaging	Het
Slc5a12	T	A	2: 110,471,137 (GRCm39)	S460T	probably benign	Het
Slco1c1	A	G	6: 141,508,913 (GRCm39)	I573M	probably benign	Het
Spata31f1e	G	A	4: 42,793,764 (GRCm39)	L123F	probably damaging	Het
Steap4	A	G	5: 8,025,664 (GRCm39)	D75G	probably benign	Het
Tcf20	A	G	15: 82,736,205 (GRCm39)	F1749L	probably damaging	Het
Thbs2	T	C	17: 14,910,231 (GRCm39)	T123A	possibly damaging	Het
Tmc3	T	C	7: 83,265,094 (GRCm39)	S663P	possibly damaging	Het
Vmn2r121	G	T	X: 123,042,618 (GRCm39)	H180N	probably benign	Het
Vnn1	T	C	10: 23,780,442 (GRCm39)	F477L	probably benign	Het
Xpnpep2	A	G	X: 47,214,302 (GRCm39)		probably null	Het
Zfand4	T	C	6: 116,265,038 (GRCm39)	F168L	probably benign	Het

Other mutations in Fem1al

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00481:Fem1al	APN	11	29,774,755 (GRCm39)	missense	probably damaging	1.00
IGL01560:Fem1al	APN	11	29,774,643 (GRCm39)	nonsense	probably null
IGL02160:Fem1al	APN	11	29,773,593 (GRCm39)	nonsense	probably null
IGL03107:Fem1al	APN	11	29,774,360 (GRCm39)	missense	probably damaging	1.00
R0504:Fem1al	UTSW	11	29,774,990 (GRCm39)	missense	probably damaging	1.00
R0615:Fem1al	UTSW	11	29,774,515 (GRCm39)	missense	probably damaging	1.00
R1167:Fem1al	UTSW	11	29,773,567 (GRCm39)	missense	probably damaging	1.00
R1329:Fem1al	UTSW	11	29,773,553 (GRCm39)	missense	probably benign	0.01
R1525:Fem1al	UTSW	11	29,773,994 (GRCm39)	missense	probably benign	0.11
R1745:Fem1al	UTSW	11	29,774,723 (GRCm39)	missense	probably benign
R1917:Fem1al	UTSW	11	29,774,039 (GRCm39)	missense	probably benign	0.00
R1918:Fem1al	UTSW	11	29,774,039 (GRCm39)	missense	probably benign	0.00
R2338:Fem1al	UTSW	11	29,773,718 (GRCm39)	missense	probably benign	0.01
R4359:Fem1al	UTSW	11	29,774,669 (GRCm39)	missense	probably benign	0.12
R4757:Fem1al	UTSW	11	29,775,454 (GRCm39)	start codon destroyed	probably null	1.00
R4859:Fem1al	UTSW	11	29,775,178 (GRCm39)	missense	probably damaging	1.00
R5595:Fem1al	UTSW	11	29,774,288 (GRCm39)	missense	probably benign	0.00
R7084:Fem1al	UTSW	11	29,775,009 (GRCm39)	missense	probably damaging	0.99
R7447:Fem1al	UTSW	11	29,774,122 (GRCm39)	missense	probably benign
R8098:Fem1al	UTSW	11	29,774,450 (GRCm39)	missense	possibly damaging	0.78
R8825:Fem1al	UTSW	11	29,773,696 (GRCm39)	missense	probably benign	0.00
R9389:Fem1al	UTSW	11	29,775,107 (GRCm39)	missense	probably damaging	1.00
R9418:Fem1al	UTSW	11	29,774,632 (GRCm39)	missense	probably damaging	0.98
R9784:Fem1al	UTSW	11	29,775,253 (GRCm39)	missense	probably damaging	1.00
Z1088:Fem1al	UTSW	11	29,775,007 (GRCm39)	missense	probably damaging	1.00

Posted On

2016-08-02