Mutagenetix > Incidental Mutation

Incidental Mutation 'R7563:Fam219a'

628184

Institutional Source

Beutler Lab

Gene Symbol

Fam219a

Ensembl Gene

ENSMUSG00000028439

Gene Name

family with sequence similarity 219, member A

Synonyms

2310028H24Rik

MMRRC Submission

045655-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R7563 (G1)

Quality Score

57.0073

Status

Validated

Chromosome

Chromosomal Location

41517691-41569538 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41569208 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glycine at position 10 (V10G)

Ref Sequence

ENSEMBL: ENSMUSP00000103687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000102963] [ENSMUST00000108049] [ENSMUST00000108050] [ENSMUST00000108052]

AlphaFold

Q9D772

Predicted Effect

probably benign
Transcript: ENSMUST00000102963

SMART Domains

Protein: ENSMUSP00000100028
Gene: ENSMUSG00000061322

Domain	Start	End	E-Value	Type
low complexity region	134	158	N/A	INTRINSIC
low complexity region	238	261	N/A	INTRINSIC
Blast:WD40	319	370	1e-17	BLAST
WD40	374	413	1.5e-3	SMART
WD40	419	465	4.4e-2	SMART
Blast:WD40	493	526	5e-13	BLAST
WD40	530	570	9.3e-9	SMART
WD40	575	612	6e-3	SMART
WD40	623	659	1.4e0	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000108049

SMART Domains

Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	26	157	2.7e-60	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000108050

SMART Domains

Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439

Domain	Start	End	E-Value	Type
Pfam:FAM219A	26	156	8.9e-61	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108052
AA Change: V10G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439
AA Change: V10G

Domain	Start	End	E-Value	Type
Pfam:FAM219A	37	168	1.6e-57	PFAM

Meta Mutation Damage Score

0.0866

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has homologs that have been identified in mouse, macaque, etc organisms. Multiple alternatively spliced transcript variants that encode different protein isoforms have been described for this gene. [provided by RefSeq, Dec 2010]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl3	A	G	4: 144,184,464 (GRCm39)	I98T	probably damaging	Het
Ahnak	T	C	19: 8,988,529 (GRCm39)	I3271T	probably damaging	Het
Aox1	G	A	1: 58,086,304 (GRCm39)	V70I	probably benign	Het
Ap1g2	A	G	14: 55,337,206 (GRCm39)	S710P	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1e	T	C	1: 154,347,162 (GRCm39)	K1064E	probably benign	Het
Capn11	T	A	17: 45,944,891 (GRCm39)	I459F	probably damaging	Het
Ccnc	A	G	4: 21,732,220 (GRCm39)	I48V	probably damaging	Het
Ces1d	T	A	8: 93,904,667 (GRCm39)	I358F	probably benign	Het
Clgn	A	T	8: 84,147,185 (GRCm39)	N379I	probably damaging	Het
Cym	T	C	3: 107,121,548 (GRCm39)	Y248C	probably damaging	Het
Epha8	T	C	4: 136,666,100 (GRCm39)	D352G	possibly damaging	Het
Eya2	T	C	2: 165,558,050 (GRCm39)		probably null	Het
Fbxl5	C	T	5: 43,978,891 (GRCm39)	V20I	probably benign	Het
Fbxl9	A	G	8: 106,042,388 (GRCm39)	C147R	probably benign	Het
Fscb	T	C	12: 64,520,059 (GRCm39)	E469G	possibly damaging	Het
Glt8d2	A	T	10: 82,496,659 (GRCm39)		probably null	Het
Grep1	A	T	17: 23,936,302 (GRCm39)	F8L	probably benign	Het
Helt	T	C	8: 46,746,630 (GRCm39)		probably benign	Het
Igkv8-27	G	T	6: 70,148,887 (GRCm39)	T89K	probably benign	Het
Ipo5	T	A	14: 121,183,567 (GRCm39)	H1048Q	probably benign	Het
Kalrn	T	C	16: 34,212,464 (GRCm39)	D28G	probably damaging	Het
Kcnh4	G	A	11: 100,632,680 (GRCm39)	P936S	probably benign	Het
Klrd1	A	G	6: 129,570,701 (GRCm39)	I37M	possibly damaging	Het
Kmt2e	T	C	5: 23,705,271 (GRCm39)	V1267A	probably damaging	Het
Marchf1	A	T	8: 66,920,965 (GRCm39)	Q214L	probably damaging	Het
Mlip	G	T	9: 77,020,279 (GRCm39)	H52N	probably damaging	Het
Oas1e	T	C	5: 120,927,021 (GRCm39)	R229G	probably benign	Het
Ogfr	T	A	2: 180,234,300 (GRCm39)		probably null	Het
Or4g16	T	C	2: 111,137,134 (GRCm39)	F195L	probably benign	Het
Or5m10	T	A	2: 85,717,482 (GRCm39)	Y113N	probably damaging	Het
Pde4d	T	C	13: 110,087,541 (GRCm39)	I636T	probably benign	Het
Pex5l	C	T	3: 33,008,625 (GRCm39)	V426I	probably damaging	Het
Pmfbp1	A	G	8: 110,252,006 (GRCm39)	K384E	possibly damaging	Het
Pramel22	A	T	4: 143,380,675 (GRCm39)	Y449*	probably null	Het
Prl6a1	T	G	13: 27,498,221 (GRCm39)		probably null	Het
Prss23	A	T	7: 89,159,038 (GRCm39)	W344R	probably damaging	Het
Ptar1	T	A	19: 23,697,680 (GRCm39)	D397E	probably benign	Het
Qrsl1	G	A	10: 43,752,513 (GRCm39)	R437C	probably damaging	Het
Rab6a	G	T	7: 100,257,404 (GRCm39)		probably benign	Het
Samd14	C	A	11: 94,912,239 (GRCm39)	S205R	probably benign	Het
Sel1l3	T	C	5: 53,343,326 (GRCm39)	Y322C	probably damaging	Het
Slc30a5	A	T	13: 100,940,480 (GRCm39)	L669I	probably benign	Het
Ssc4d	A	G	5: 135,991,887 (GRCm39)	L419P	probably damaging	Het
Tbc1d2b	A	T	9: 90,101,063 (GRCm39)	Y642*	probably null	Het
Tbc1d2b	A	C	9: 90,108,301 (GRCm39)	F417V	probably benign	Het
Top2a	T	C	11: 98,907,005 (GRCm39)	D212G	probably damaging	Het
Trim39	A	T	17: 36,571,807 (GRCm39)	V317E	probably damaging	Het
Uncx	G	A	5: 139,530,261 (GRCm39)	R113H	probably damaging	Het
Usp4	A	G	9: 108,256,543 (GRCm39)	S655G	probably benign	Het
Vmn2r114	C	T	17: 23,510,000 (GRCm39)	V827I	probably benign	Het
Vmn2r28	T	A	7: 5,491,200 (GRCm39)	N349I	probably benign	Het
Vmn2r3	A	G	3: 64,182,770 (GRCm39)	W310R	possibly damaging	Het
Xirp2	T	C	2: 67,340,245 (GRCm39)	W829R	probably damaging	Het
Zfp574	C	A	7: 24,780,777 (GRCm39)	H600N	possibly damaging	Het

Other mutations in Fam219a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Fam219a	APN	4	41,521,684 (GRCm39)	missense	probably benign	0.34
R0607:Fam219a	UTSW	4	41,520,242 (GRCm39)	makesense	probably null
R4362:Fam219a	UTSW	4	41,518,844 (GRCm39)	utr 3 prime	probably benign
R4659:Fam219a	UTSW	4	41,521,645 (GRCm39)	missense	probably null	0.56
R5438:Fam219a	UTSW	4	41,520,302 (GRCm39)	missense	probably damaging	0.98
R7025:Fam219a	UTSW	4	41,521,925 (GRCm39)	missense	probably benign	0.07
R8389:Fam219a	UTSW	4	41,520,935 (GRCm39)	missense	probably damaging	1.00
R8701:Fam219a	UTSW	4	41,520,283 (GRCm39)	missense	probably damaging	0.99
R9109:Fam219a	UTSW	4	41,521,870 (GRCm39)	missense	probably damaging	1.00
R9289:Fam219a	UTSW	4	41,521,942 (GRCm39)	missense	probably damaging	1.00
R9456:Fam219a	UTSW	4	41,521,871 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCTGCATCTGCTGACCGTG -3'
(R):5'- AAGTGGAGTTGCAGAGTCACC -3'

Sequencing Primer
(F):5'- ACCGCTGGTAATCTCCCACG -3'
(R):5'- TTGCAGAGTCACCGCAGTG -3'

Posted On

2020-02-04