Mutagenetix > Incidental Mutation

Incidental Mutation 'R4359:Fem1al'

324817

Institutional Source

Beutler Lab

Gene Symbol

Fem1al

Ensembl Gene

ENSMUSG00000078157

Gene Name

fem-1 homolog A like

Synonyms

4931440F15Rik

MMRRC Submission

041670-MU

Accession Numbers

Essential gene?

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

Stock #

R4359 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

29772395-29775668 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 29774669 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 263 (S263T)

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: S263T

PolyPhen 2 Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000100568
Gene: ENSMUSG00000078157
AA Change: S263T

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: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	T	11: 9,247,629 (GRCm39)	V2459F	probably benign	Het
Acot1	T	C	12: 84,061,314 (GRCm39)	Y207H	probably damaging	Het
Anapc1	A	G	2: 128,465,476 (GRCm39)	V1668A	possibly damaging	Het
Atr	T	A	9: 95,833,589 (GRCm39)	I2613N	probably damaging	Het
Baz2b	A	G	2: 59,731,957 (GRCm39)	I2027T	possibly damaging	Het
C2cd3	T	G	7: 100,090,296 (GRCm39)	H466Q	probably damaging	Het
Cdc14b	T	A	13: 64,396,225 (GRCm39)	I15F	probably benign	Het
Cep135	G	T	5: 76,759,561 (GRCm39)	K438N	possibly damaging	Het
Cnot1	T	C	8: 96,466,476 (GRCm39)	D1587G	probably damaging	Het
Cxcl16	C	A	11: 70,349,631 (GRCm39)	V65L	possibly damaging	Het
Dhx36	T	A	3: 62,382,699 (GRCm39)	T783S	probably benign	Het
Disp3	T	C	4: 148,356,389 (GRCm39)	N157S	probably benign	Het
Efcab3	G	T	11: 104,624,547 (GRCm39)		probably null	Het
Gfod2	T	C	8: 106,444,177 (GRCm39)	N122S	possibly damaging	Het
Grin3b	T	A	10: 79,808,731 (GRCm39)	D160E	probably benign	Het
Grm7	G	T	6: 110,623,309 (GRCm39)	V161F	probably damaging	Het
Htr1b	C	A	9: 81,514,404 (GRCm39)	A68S	probably benign	Het
Ifit2	A	T	19: 34,550,544 (GRCm39)	D28V	possibly damaging	Het
Ifna15	G	T	4: 88,476,079 (GRCm39)	T135N	probably benign	Het
Igsf9b	G	A	9: 27,220,774 (GRCm39)	V47I	possibly damaging	Het
Kif24	A	G	4: 41,413,827 (GRCm39)		probably null	Het
Klhl25	T	C	7: 75,516,480 (GRCm39)	V462A	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
L3mbtl3	A	G	10: 26,203,639 (GRCm39)	V397A	unknown	Het
Lpcat2	C	A	8: 93,599,734 (GRCm39)	P234Q	probably benign	Het
Lrp1b	A	C	2: 40,793,077 (GRCm39)	C2532W	probably damaging	Het
Malt1	T	C	18: 65,609,300 (GRCm39)	V768A	probably benign	Het
Mindy3	A	T	2: 12,401,020 (GRCm39)	W233R	probably damaging	Het
Ncor1	T	C	11: 62,249,736 (GRCm39)	K1054R	probably damaging	Het
Nin	T	A	12: 70,061,712 (GRCm39)	T2051S	probably benign	Het
Or10j5	C	A	1: 172,784,647 (GRCm39)	A95E	probably benign	Het
Or51ac3	A	G	7: 103,213,742 (GRCm39)	F248S	probably benign	Het
Pcsk1	T	C	13: 75,260,838 (GRCm39)	S354P	possibly damaging	Het
Pilra	T	C	5: 137,829,576 (GRCm39)	T160A	probably benign	Het
Plekha5	G	C	6: 140,537,414 (GRCm39)	E540D	probably benign	Het
Prps2	T	A	X: 166,146,545 (GRCm39)	K176*	probably null	Het
Rasgrf2	C	A	13: 92,038,796 (GRCm39)	D1017Y	probably damaging	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Spsb1	T	C	4: 149,991,232 (GRCm39)	H112R	probably damaging	Het
Srd5a3	T	A	5: 76,295,547 (GRCm39)	F79Y	probably damaging	Het
Stxbp4	C	T	11: 90,385,470 (GRCm39)	W506*	probably null	Het
Timeless	C	A	10: 128,083,211 (GRCm39)	Q653K	probably benign	Het
Trio	G	A	15: 27,749,883 (GRCm39)	Q1129*	probably null	Het
Vrk3	C	T	7: 44,424,866 (GRCm39)	T427M	probably benign	Het
Zzef1	T	A	11: 72,714,334 (GRCm39)	S275T	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
R2338:Fem1al	UTSW	11	29,773,718 (GRCm39)	missense	probably benign	0.01
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'- TAGGCCAGAACCAGTTGCTG -3'
(R):5'- TCCTACAACTGCTGCTGAGC -3'

Sequencing Primer
(F):5'- GCTCTGGCTTAGGGAGGAAG -3'
(R):5'- CTGCTGAGCTGCCACGC -3'

Posted On

2015-07-06