Mutagenetix > Incidental Mutation

Incidental Mutation 'R2338:Fem1al'

246640

Institutional Source

Beutler Lab

Gene Symbol

Fem1al

Ensembl Gene

ENSMUSG00000078157

Gene Name

fem-1 homolog A like

Synonyms

4931440F15Rik

MMRRC Submission

040324-MU

Accession Numbers

Essential gene?

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

Stock #

R2338 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29772395-29775668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 29773718 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 580 (A580S)

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: A580S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: A580S

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

Meta Mutation Damage Score

0.0790

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.5%

Validation Efficiency

98% (53/54)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930474N05Rik	A	G	14: 35,817,109 (GRCm39)	D53G	probably benign	Het
A1cf	C	T	19: 31,909,945 (GRCm39)	P330S	probably benign	Het
Acta2	A	G	19: 34,225,941 (GRCm39)		probably benign	Het
Actrt3	A	G	3: 30,651,985 (GRCm39)	*370R	probably null	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Btbd8	T	C	5: 107,658,440 (GRCm39)	L1158S	probably damaging	Het
Cadps2	C	G	6: 23,838,977 (GRCm39)		probably benign	Het
Camsap3	C	T	8: 3,656,808 (GRCm39)	R1048C	probably damaging	Het
Cdkl2	C	T	5: 92,181,538 (GRCm39)	A148T	possibly damaging	Het
Dab2	T	A	15: 6,464,733 (GRCm39)	I395K	possibly damaging	Het
Dclk2	A	G	3: 86,706,324 (GRCm39)	F589S	probably damaging	Het
Ddx60	T	C	8: 62,465,470 (GRCm39)	S1376P	possibly damaging	Het
Eprs1	T	C	1: 185,148,005 (GRCm39)	F1256L	probably damaging	Het
Etaa1	A	T	11: 17,895,605 (GRCm39)		probably null	Het
Fat2	T	C	11: 55,202,727 (GRCm39)	T116A	possibly damaging	Het
Fmnl3	T	C	15: 99,268,108 (GRCm39)	T26A	probably benign	Het
Foxp1	A	G	6: 98,980,254 (GRCm39)	V158A	possibly damaging	Het
G6pd2	T	A	5: 61,967,351 (GRCm39)	D375E	probably benign	Het
Gne	C	T	4: 44,042,196 (GRCm39)	A460T	probably damaging	Het
Gprin1	T	A	13: 54,886,238 (GRCm39)		probably null	Het
Hecw2	T	C	1: 53,943,581 (GRCm39)	M949V	possibly damaging	Het
Herc1	G	A	9: 66,336,251 (GRCm39)	V1599M	possibly damaging	Het
Hk2	A	C	6: 82,708,096 (GRCm39)	N628K	probably damaging	Het
Hmcn1	T	C	1: 150,498,685 (GRCm39)	T4065A	possibly damaging	Het
Ipo8	T	A	6: 148,691,321 (GRCm39)	Q683L	probably benign	Het
Krt81	A	G	15: 101,361,217 (GRCm39)	I121T	probably benign	Het
Lamb2	T	C	9: 108,359,340 (GRCm39)	L322P	probably benign	Het
Lilrb4a	A	G	10: 51,367,796 (GRCm39)	M113V	probably benign	Het
Mnat1	G	A	12: 73,265,917 (GRCm39)		probably null	Het
Mucl1	T	A	15: 103,783,964 (GRCm39)	T68S	possibly damaging	Het
Npnt	G	T	3: 132,597,170 (GRCm39)	D461E	probably damaging	Het
Nrp1	A	T	8: 129,224,385 (GRCm39)	Q716L	probably benign	Het
Or11g25	A	G	14: 50,723,097 (GRCm39)	T61A	possibly damaging	Het
Or12k5	T	G	2: 36,895,159 (GRCm39)	S156R	probably damaging	Het
Or51b6b	A	T	7: 103,309,617 (GRCm39)	I280N	possibly damaging	Het
Podxl2	T	C	6: 88,826,178 (GRCm39)	Q376R	probably damaging	Het
Pudp	T	C	18: 50,701,646 (GRCm39)	D29G	probably benign	Het
Rrs1	C	A	1: 9,616,026 (GRCm39)		probably null	Het
S1pr3	T	C	13: 51,573,614 (GRCm39)	I265T	possibly damaging	Het
Scgb1b2	A	T	7: 30,991,038 (GRCm39)	C23*	probably null	Het
Spag8	G	T	4: 43,652,826 (GRCm39)	R212S	probably benign	Het
Tacc2	A	G	7: 130,335,299 (GRCm39)		probably null	Het
Trmt1l	C	T	1: 151,304,710 (GRCm39)		probably benign	Het
Trpa1	A	T	1: 14,954,469 (GRCm39)	L810Q	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ugt3a1	T	A	15: 9,292,059 (GRCm39)		probably benign	Het
Vmn2r23	T	G	6: 123,681,384 (GRCm39)	I97M	possibly damaging	Het
Vmn2r65	A	T	7: 84,590,051 (GRCm39)	F622I	possibly damaging	Het
Vps13a	C	T	19: 16,697,817 (GRCm39)	G766E	probably damaging	Het
Wnk1	T	C	6: 119,946,495 (GRCm39)	T553A	probably benign	Het
Xirp2	T	A	2: 67,341,114 (GRCm39)	D1118E	probably damaging	Het
Zfyve9	A	C	4: 108,517,811 (GRCm39)	D461E	probably 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
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

Predicted Primers

PCR Primer
(F):5'- AACTGGATGAAGGCCTCCAG -3'
(R):5'- AGTCTATCGCCTGCTCAAGTG -3'

Sequencing Primer
(F):5'- AGCTCCTCTGGGATGAAGC -3'
(R):5'- TGGCAAGAACGGCTTCAC -3'

Posted On

2014-10-30