Mutagenetix > Incidental Mutation

Incidental Mutation 'R8701:Fam219a'

669048

Institutional Source

Beutler Lab

Gene Symbol

Fam219a

Ensembl Gene

ENSMUSG00000028439

Gene Name

family with sequence similarity 219, member A

Synonyms

2310028H24Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41517691-41569538 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 41520283 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 155 (M155T)

Ref Sequence

ENSEMBL: ENSMUSP00000103687 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030152] [ENSMUST00000095126] [ENSMUST00000108049] [ENSMUST00000108050] [ENSMUST00000108052]

AlphaFold

Q9D772

Predicted Effect

probably benign
Transcript: ENSMUST00000030152

SMART Domains

Protein: ENSMUSP00000030152
Gene: ENSMUSG00000028441

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	260	3.3e-157	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000095126

SMART Domains

Protein: ENSMUSP00000092744
Gene: ENSMUSG00000028441

Domain	Start	End	E-Value	Type
Pfam:SMRP1	1	202	6.5e-102	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108049
AA Change: M144T

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000103684
Gene: ENSMUSG00000028439
AA Change: M144T

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108050
AA Change: M143T

PolyPhen 2 Score 0.920 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103685
Gene: ENSMUSG00000028439
AA Change: M143T

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000108052
AA Change: M155T

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000103687
Gene: ENSMUSG00000028439
AA Change: M155T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931408C20Rik	A	T	1: 26,685,445	V218D	probably benign	Het
Abcc4	T	C	14: 118,599,373	I659V	probably benign	Het
Adamtsl4	T	A	3: 95,684,966	D24V	possibly damaging	Het
Agtr1b	A	T	3: 20,316,092	F117I	probably damaging	Het
Aldh3b2	A	G	19: 3,978,448	E116G	probably damaging	Het
Alox5	T	A	6: 116,413,826	I455F	possibly damaging	Het
Arnt	C	T	3: 95,493,765	S675F	possibly damaging	Het
C330027C09Rik	T	A	16: 49,007,141	Y456*	probably null	Het
Camkv	A	G	9: 107,948,041	T414A	possibly damaging	Het
Cd209c	C	T	8: 3,945,892	R6H	probably benign	Het
Cnr1	A	G	4: 33,944,739	I376V	probably benign	Het
Cyp2j12	T	A	4: 96,121,573	K183M	possibly damaging	Het
Dact3	G	T	7: 16,885,276	R232L	probably damaging	Het
Dlg5	G	A	14: 24,176,700	T378M	probably benign	Het
Dnah10	T	A	5: 124,726,847	D79E	probably benign	Het
Dsc1	A	T	18: 20,107,682	Y195*	probably null	Het
Elovl1	A	T	4: 118,430,510	M1L	probably benign	Het
Fam107a	A	G	14: 8,298,755	F124L	probably damaging	Het
Gm28308	C	G	6: 52,163,450		probably benign	Het
Gpr153	C	T	4: 152,279,101		probably benign	Het
Gtf2ird2	T	A	5: 134,216,235	I445N	probably damaging	Het
Gzmb	A	T	14: 56,260,360	V141E	probably benign	Het
Hmcn1	A	T	1: 150,755,257	M930K	probably benign	Het
Hunk	T	A	16: 90,386,610	F52Y	probably damaging	Het
Il18rap	A	G	1: 40,539,341	E304G	probably benign	Het
Klk14	A	G	7: 43,694,142	S133G	possibly damaging	Het
Man2b1	T	C	8: 85,095,153	S695P	probably damaging	Het
Mccc1	A	T	3: 35,995,784	D86E	probably benign	Het
Mcu	T	A	10: 59,467,653	I121F	probably damaging	Het
Mlxipl	T	C	5: 135,107,191	F90S	possibly damaging	Het
Muc2	A	G	7: 141,695,607	D536G	probably damaging	Het
Naa11	T	C	5: 97,391,958	S114G	possibly damaging	Het
Ncaph	T	C	2: 127,106,138	K676E	probably benign	Het
Neurl2	C	T	2: 164,833,134	D103N	probably benign	Het
Nup210l	T	C	3: 90,122,814	M278T	probably benign	Het
Olfr1192-ps1	A	G	2: 88,652,487	I112V	possibly damaging	Het
Olfr550	A	T	7: 102,578,692	M66L	possibly damaging	Het
Olfr897-ps1	A	T	9: 38,309,438	L214F	unknown	Het
Olfr967	A	T	9: 39,750,914	H176L	probably damaging	Het
Olfr981	A	G	9: 40,022,519	N42S	probably damaging	Het
Pcdh20	A	T	14: 88,468,413	Y484N	possibly damaging	Het
Pkhd1l1	A	G	15: 44,574,683	Y3598C	probably damaging	Het
Plcg2	T	A	8: 117,581,677	L336Q	probably damaging	Het
Ppp1r8	T	C	4: 132,830,642	D207G	possibly damaging	Het
Prdm13	C	T	4: 21,678,615	C625Y	probably damaging	Het
Ptcd3	T	C	6: 71,885,511	D480G	possibly damaging	Het
Rbm39	T	A	2: 156,161,587	K291M	probably damaging	Het
Repin1	G	T	6: 48,597,345	E403*	probably null	Het
Rnf220	T	C	4: 117,489,993	H74R	probably damaging	Het
Sp6	A	T	11: 97,022,264	T268S	probably damaging	Het
Sphk2	A	T	7: 45,710,825	V585E	probably damaging	Het
Syne1	G	A	10: 5,205,026	Q5638*	probably null	Het
Tas1r3	C	T	4: 155,861,046	V573I	probably benign	Het
Tdrd1	T	C	19: 56,851,484	S659P	possibly damaging	Het
Tead4	T	A	6: 128,242,566	K237N	probably damaging	Het
Tex24	T	A	8: 27,345,124	C227S	probably benign	Het
Tom1	A	T	8: 75,052,168	T174S	probably benign	Het
Tpm3	C	T	3: 90,087,680	R168C	possibly damaging	Het
Trpv3	A	G	11: 73,278,936	E111G	possibly damaging	Het
Unc80	A	G	1: 66,638,032	D2040G	possibly damaging	Het
Usp47	A	G	7: 112,093,195	T955A	probably damaging	Het
Vmn2r11	G	A	5: 109,047,690	A590V	probably damaging	Het
Wisp2	G	T	2: 163,828,866	G98W	probably damaging	Het
Zfp112	A	G	7: 24,125,740	R382G	probably damaging	Het
Zfp606	T	A	7: 12,481,098	D84E	unknown	Het

Other mutations in Fam219a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00792:Fam219a	APN	4	41521684	missense	probably benign	0.34
R0607:Fam219a	UTSW	4	41520242	makesense	probably null
R4362:Fam219a	UTSW	4	41518844	utr 3 prime	probably benign
R4659:Fam219a	UTSW	4	41521645	missense	probably null	0.56
R5438:Fam219a	UTSW	4	41520302	missense	probably damaging	0.98
R7025:Fam219a	UTSW	4	41521925	missense	probably benign	0.07
R7563:Fam219a	UTSW	4	41569208	missense	probably benign
R8389:Fam219a	UTSW	4	41520935	missense	probably damaging	1.00
R9109:Fam219a	UTSW	4	41521870	missense	probably damaging	1.00
R9289:Fam219a	UTSW	4	41521942	missense	probably damaging	1.00
R9456:Fam219a	UTSW	4	41521871	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACAGAGGTACACGTCCTACC -3'
(R):5'- CTCAGACCTGGCATGAGATG -3'

Sequencing Primer
(F):5'- CCATAGGAGGAAGCAATGACTGTTAC -3'
(R):5'- CCTGGCATGAGATGGGGCTG -3'

Posted On

2021-04-30