Mutagenetix > Incidental Mutations

Incidental Mutation 'R1668:Fam205a1'

187345

Institutional Source

Beutler Lab

Gene Symbol

Fam205a1

Ensembl Gene

ENSMUSG00000078721

Gene Name

family with sequence similarity 205, member A1

Synonyms

Gm12429

MMRRC Submission

039704-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.084) question?

Stock #

R1668 (G1)

Quality Score

124

Status

Not validated

Chromosome

Chromosomal Location

42848071-42853888 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 42848424 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Lysine at position 1244 (T1244K)

Ref Sequence

ENSEMBL: ENSMUSP00000103613 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068158] [ENSMUST00000107979] [ENSMUST00000107981] [ENSMUST00000107984]

Predicted Effect

probably benign
Transcript: ENSMUST00000068158

SMART Domains

Protein: ENSMUSP00000068585
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000107979
AA Change: T1244K

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103613
Gene: ENSMUSG00000078721
AA Change: T1244K

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
Pfam:DUF4599	52	137	5e-26	PFAM
low complexity region	169	179	N/A	INTRINSIC
internal_repeat_1	278	314	8.5e-5	PROSPERO
Pfam:FAM75	409	493	4.3e-10	PFAM
Pfam:FAM75	453	628	1.2e-12	PFAM
low complexity region	1160	1172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107981

SMART Domains

Protein: ENSMUSP00000103615
Gene: ENSMUSG00000078722

Domain	Start	End	E-Value	Type
Pfam:DUF4599	1	56	1.4e-15	PFAM
low complexity region	87	104	N/A	INTRINSIC
Pfam:FAM75	157	279	9.4e-9	PFAM
Pfam:FAM75	322	366	6.1e-10	PFAM
Pfam:FAM75	365	543	8.3e-11	PFAM
low complexity region	882	895	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107984

SMART Domains

Protein: ENSMUSP00000103618
Gene: ENSMUSG00000054885

Domain	Start	End	E-Value	Type
signal peptide	1	16	N/A	INTRINSIC
low complexity region	72	88	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.5%
20x: 93.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adra2c	T	C	5: 35,280,297	S138P	probably damaging	Het
Appl1	A	C	14: 26,923,854	S666R	probably damaging	Het
Arhgap45	A	G	10: 80,028,750	S879G	possibly damaging	Het
Calcoco2	T	C	11: 96,102,737	M140V	probably benign	Het
Cap2	C	A	13: 46,615,323	H147N	probably damaging	Het
Chd9	A	T	8: 91,041,186	H2437L	probably damaging	Het
Col5a3	A	G	9: 20,771,096	I1684T	unknown	Het
Comp	A	T	8: 70,378,957		probably null	Het
Cyp2c50	A	T	19: 40,091,055	M198L	probably benign	Het
Dnaaf2	A	G	12: 69,196,691	V532A	probably benign	Het
Dnah10	A	T	5: 124,765,562	Q1358L	probably benign	Het
Dopey2	T	A	16: 93,765,516	S832T	probably damaging	Het
Dus3l	T	G	17: 56,766,912	F162C	possibly damaging	Het
Epb41l4a	A	G	18: 33,921,909	L42P	probably damaging	Het
Ercc5	T	A	1: 44,167,033	S369T	probably benign	Het
Fbxl2	C	T	9: 113,989,146	V211M	probably benign	Het
Fermt3	A	G	19: 7,018,692	V45A	probably damaging	Het
Frs3	C	A	17: 47,703,222	P280Q	possibly damaging	Het
Fxn	A	G	19: 24,262,013	Y172H	probably damaging	Het
Gabpa	T	C	16: 84,846,181	V122A	probably damaging	Het
Gsta4	A	G	9: 78,204,288	T66A	probably benign	Het
Hsdl2	C	T	4: 59,612,697	T296M	probably damaging	Het
Kank4	T	C	4: 98,778,896	N438S	probably damaging	Het
Krt24	A	G	11: 99,284,618	I197T	probably benign	Het
Lct	T	C	1: 128,287,722		probably null	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,185,261		probably null	Het
Mc4r	A	G	18: 66,859,409	L211P	probably damaging	Het
Mfsd4b5	T	C	10: 39,973,691	T111A	probably damaging	Het
Mgat5b	T	A	11: 116,983,648	N635K	probably benign	Het
Mms19	A	T	19: 41,952,556	M443K	possibly damaging	Het
Morc2a	G	A	11: 3,675,885	V162M	probably benign	Het
Mroh5	T	C	15: 73,787,905	N359S	probably benign	Het
Mroh9	T	C	1: 163,024,592	I843V	possibly damaging	Het
Nbeal2	T	C	9: 110,638,893	D436G	probably damaging	Het
Nbr1	A	G	11: 101,569,766	D502G	probably benign	Het
Ngfr	C	T	11: 95,587,545	G5D	probably damaging	Het
Nlrc4	G	A	17: 74,445,906	T494M	probably damaging	Het
Notch3	T	A	17: 32,158,589	H171L	probably damaging	Het
Nsmaf	A	G	4: 6,398,880	L795P	probably damaging	Het
Nup210	T	C	6: 91,028,805	T616A	possibly damaging	Het
Olfr1467	A	C	19: 13,364,870	M81L	probably benign	Het
Olfr347	T	A	2: 36,735,192	Y290*	probably null	Het
Olfr975	C	A	9: 39,950,169	V201L	possibly damaging	Het
Olfr995	T	A	2: 85,438,876	Y94F	probably benign	Het
Osbpl5	T	C	7: 143,709,039	H192R	probably damaging	Het
Parp2	G	A	14: 50,820,856	R486Q	probably benign	Het
Pcgf6	G	A	19: 47,040,105	A286V	probably damaging	Het
Pla2r1	T	C	2: 60,428,646	T1133A	probably damaging	Het
Plekha2	T	C	8: 25,072,054	N48S	probably damaging	Het
Pole	T	G	5: 110,297,369	S461A	probably damaging	Het
Ppfibp2	T	C	7: 107,729,892	L536P	probably damaging	Het
Prkcz	G	T	4: 155,289,751	F69L	probably damaging	Het
Prkd1	G	A	12: 50,394,926	H277Y	probably damaging	Het
Rab23	A	T	1: 33,734,854	K132*	probably null	Het
Rbck1	T	A	2: 152,316,899	S488C	probably damaging	Het
Rbl1	T	C	2: 157,159,734	Y878C	probably damaging	Het
Rpn2	C	T	2: 157,294,155	T161M	possibly damaging	Het
Rufy4	G	A	1: 74,147,678	V542I	probably benign	Het
Serpinb3d	A	G	1: 107,080,751	V128A	probably benign	Het
Smarca2	A	G	19: 26,647,034	I365V	possibly damaging	Het
Sptb	A	G	12: 76,621,169	V718A	probably benign	Het
Susd4	A	G	1: 182,858,563	H226R	probably benign	Het
Tmem151b	T	C	17: 45,545,905	Y203C	probably damaging	Het
Tmppe	T	C	9: 114,404,900	V89A	possibly damaging	Het
Trappc6b	A	T	12: 59,048,121		probably null	Het
Ube4b	A	T	4: 149,361,294	M433K	probably benign	Het
Vmn1r202	A	T	13: 22,501,370	D292E	possibly damaging	Het
Vmn1r22	A	G	6: 57,900,719	M91T	probably benign	Het
Vmn1r43	T	C	6: 89,869,701	I268V	probably benign	Het
Vmn1r49	T	A	6: 90,072,782	R79S	probably benign	Het
Vmn2r14	T	A	5: 109,219,047	K436*	probably null	Het
Wdr72	A	G	9: 74,210,162	S719G	probably damaging	Het
Zfp526	T	C	7: 25,225,542	F409L	probably benign	Het
Zfp804b	A	C	5: 6,771,323	L580R	possibly damaging	Het
Zfp977	T	C	7: 42,580,646	T152A	probably benign	Het
Zyx	T	A	6: 42,356,032	V372E	possibly damaging	Het

Other mutations in Fam205a1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01307:Fam205a1	APN	4	42850963	missense	probably benign	0.04
IGL01369:Fam205a1	APN	4	42852548	splice site	probably null
IGL02737:Fam205a1	APN	4	42849431	missense	possibly damaging	0.90
IGL02951:Fam205a1	APN	4	42850696	missense	probably benign	0.03
IGL03190:Fam205a1	APN	4	42848362	missense	probably benign	0.20
IGL03407:Fam205a1	APN	4	42850528	missense	probably benign	0.00
R0285:Fam205a1	UTSW	4	42850236	missense	probably benign	0.00
R0345:Fam205a1	UTSW	4	42851116	missense	probably benign	0.00
R0373:Fam205a1	UTSW	4	42851161	missense	probably benign	0.00
R0763:Fam205a1	UTSW	4	42851238	missense	probably damaging	1.00
R2406:Fam205a1	UTSW	4	42851696	missense	probably benign
R3722:Fam205a1	UTSW	4	42851472	missense	probably benign	0.01
R4820:Fam205a1	UTSW	4	42851815	missense	probably damaging	1.00
R5168:Fam205a1	UTSW	4	42851488	missense	probably damaging	0.99
R6170:Fam205a1	UTSW	4	42849345	missense	probably benign	0.00
R6249:Fam205a1	UTSW	4	42850528	missense	probably benign	0.00
R6357:Fam205a1	UTSW	4	42850393	missense	probably damaging	1.00
R6496:Fam205a1	UTSW	4	42848424	missense	probably damaging	0.99
R6894:Fam205a1	UTSW	4	42850291	missense	probably benign	0.33
R7079:Fam205a1	UTSW	4	42851718	missense	probably benign	0.17

Predicted Primers

PCR Primer
(F):5'- CATTTCTGATGTGAACCCTGGGACC -3'
(R):5'- CAGAACCTGCGAGGACTGCTAAAG -3'

Sequencing Primer
(F):5'- CTAGGGTGGGTTTCTCTGTTG -3'
(R):5'- CTCAGAGAAAGCCTTCTCAGG -3'

Posted On

2014-05-09