Mutagenetix > Incidental Mutation

Incidental Mutation 'R5595:Fem1al'

437785

Institutional Source

Beutler Lab

Gene Symbol

Fem1al

Ensembl Gene

ENSMUSG00000078157

Gene Name

fem-1 homolog A like

Synonyms

4931440F15Rik

MMRRC Submission

043147-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.103) question?

Stock #

R5595 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29772395-29775668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 29774288 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Aspartic acid at position 390 (N390D)

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: N390D

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

SMART Domains

Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: N390D

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

1x: 99.9%
3x: 99.7%
10x: 98.7%
20x: 96.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,682,143 (GRCm39)	F991S	probably benign	Het
4931406B18Rik	A	G	7: 43,147,296 (GRCm39)	I218T	possibly damaging	Het
9930111J21Rik2	C	T	11: 48,910,538 (GRCm39)	A632T	possibly damaging	Het
Akt1	A	T	12: 112,625,050 (GRCm39)	L166Q	probably null	Het
Alpk2	A	T	18: 65,399,319 (GRCm39)	D2086E	probably damaging	Het
Ankrd11	A	T	8: 123,621,043 (GRCm39)	C915*	probably null	Het
Ankrd44	T	C	1: 54,801,506 (GRCm39)	T274A	probably damaging	Het
Ankrd44	A	T	1: 54,774,209 (GRCm39)	I398K	probably damaging	Het
Arhgef2	A	G	3: 88,550,283 (GRCm39)	T663A	probably benign	Het
Btbd16	G	A	7: 130,425,033 (GRCm39)	M471I	possibly damaging	Het
Btbd16	C	A	7: 130,425,034 (GRCm39)	Q472K	probably damaging	Het
Cdc37	G	A	9: 21,054,509 (GRCm39)	R39C	probably damaging	Het
Cnnm1	A	G	19: 43,453,596 (GRCm39)	N537S	possibly damaging	Het
Cop1	T	A	1: 159,077,643 (GRCm39)	D159E	probably benign	Het
Crtac1	C	T	19: 42,402,390 (GRCm39)	V73I	probably benign	Het
Cryz	T	A	3: 154,312,155 (GRCm39)	V84E	probably damaging	Het
Ctnnd2	C	T	15: 30,669,689 (GRCm39)	L433F	probably benign	Het
Ctsq	C	A	13: 61,184,874 (GRCm39)	D271Y	probably benign	Het
Cyp3a25	A	C	5: 145,931,673 (GRCm39)		probably null	Het
Dmbt1	G	C	7: 130,655,797 (GRCm39)	W412C	probably benign	Het
Eif4e1b	G	A	13: 54,934,529 (GRCm39)	V131I	possibly damaging	Het
Epha1	A	G	6: 42,341,568 (GRCm39)	V494A	possibly damaging	Het
Fbxl4	T	C	4: 22,433,641 (GRCm39)	S593P	probably damaging	Het
Fbxo41	G	A	6: 85,456,883 (GRCm39)	P429S	probably benign	Het
Fgfr3	G	A	5: 33,887,347 (GRCm39)	C204Y	probably damaging	Het
Gbf1	T	C	19: 46,272,861 (GRCm39)	V1665A	possibly damaging	Het
Htt	T	A	5: 35,062,741 (GRCm39)	V2825E	probably damaging	Het
Irs1	A	T	1: 82,267,646 (GRCm39)	V190E	probably damaging	Het
Kics2	T	C	10: 121,576,052 (GRCm39)		probably benign	Het
Klk1	T	C	7: 43,878,161 (GRCm39)		probably null	Het
Kmt2d	T	C	15: 98,747,905 (GRCm39)		probably benign	Het
Meox1	T	C	11: 101,770,169 (GRCm39)	E186G	probably damaging	Het
Micu2	G	A	14: 58,209,201 (GRCm39)	R86W	probably damaging	Het
Mrgprb1	A	T	7: 48,097,432 (GRCm39)	I160K	probably damaging	Het
Nckap1l	T	A	15: 103,384,085 (GRCm39)	M561K	possibly damaging	Het
Or4c104	A	T	2: 88,586,749 (GRCm39)	I90N	probably damaging	Het
Or52s6	A	T	7: 103,091,635 (GRCm39)	S232T	probably damaging	Het
Or56b35	A	T	7: 104,963,213 (GRCm39)	M1L	probably benign	Het
Otoa	T	A	7: 120,721,200 (GRCm39)	L405H	probably damaging	Het
Phyhip	A	T	14: 70,704,314 (GRCm39)	M178L	probably benign	Het
Pkd1l3	A	T	8: 110,382,152 (GRCm39)	N1630I	probably damaging	Het
Plek2	T	A	12: 78,940,883 (GRCm39)	T247S	probably benign	Het
Rhbdl3	T	C	11: 80,228,409 (GRCm39)	V293A	probably damaging	Het
Rock2	T	A	12: 16,992,810 (GRCm39)	F193Y	probably damaging	Het
Scn3a	C	T	2: 65,291,057 (GRCm39)	M1896I	probably benign	Het
Snrnp200	T	C	2: 127,067,933 (GRCm39)	V810A	probably damaging	Het
Taar4	G	A	10: 23,836,639 (GRCm39)	S83N	probably damaging	Het
Tdpoz4	A	T	3: 93,704,806 (GRCm39)	T368S	probably benign	Het
Tec	T	A	5: 72,926,087 (GRCm39)	I322F	possibly damaging	Het
Teddm2	T	C	1: 153,726,146 (GRCm39)	I190V	probably benign	Het
Tmem117	A	G	15: 94,992,765 (GRCm39)	E475G	probably damaging	Het
Trip10	T	A	17: 57,569,460 (GRCm39)	Y495N	probably damaging	Het
Ush2a	T	C	1: 188,638,695 (GRCm39)	V4035A	possibly damaging	Het
Utrn	C	T	10: 12,558,062 (GRCm39)	V1466M	possibly damaging	Het
Vasp	A	G	7: 18,991,816 (GRCm39)		probably benign	Het
Vmn1r89	A	T	7: 12,953,857 (GRCm39)	M130L	possibly damaging	Het
Vmn2r2	A	T	3: 64,034,036 (GRCm39)	D495E	possibly damaging	Het
Zfp213	A	G	17: 23,780,160 (GRCm39)	V120A	possibly damaging	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
IGL03058:Fem1al	APN	11	29,774,656 (GRCm39)	missense	probably benign	0.01
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
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

Predicted Primers

PCR Primer
(F):5'- TGAACTGTGCGGAGTCATCC -3'
(R):5'- TCTGGCCTATGACTATTCCAGGG -3'

Sequencing Primer
(F):5'- TTGCTGAGCACACCTATGAG -3'
(R):5'- CCTATGACTATTCCAGGGAGGTGAC -3'

Posted On

2016-10-26