Mutagenetix > Incidental Mutation

Incidental Mutation 'R1660:Fam210a'

186702

Institutional Source

Beutler Lab

Gene Symbol

Fam210a

Ensembl Gene

ENSMUSG00000038121

Gene Name

family with sequence similarity 210, member A

Synonyms

4933403F05Rik

MMRRC Submission

039696-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1660 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

68393258-68433404 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 68409167 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 48 (T48A)

Ref Sequence

ENSEMBL: ENSMUSP00000122677 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000042852] [ENSMUST00000152193]

AlphaFold

Q8BGY7

Predicted Effect

probably benign
Transcript: ENSMUST00000042852
AA Change: T48A

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

SMART Domains

Protein: ENSMUSP00000045927
Gene: ENSMUSG00000038121
AA Change: T48A

Domain	Start	End	E-Value	Type
low complexity region	97	113	N/A	INTRINSIC
Pfam:DUF1279	125	212	4e-26	PFAM
coiled coil region	236	266	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000152193
AA Change: T48A

PolyPhen 2 Score 0.225 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000122677
Gene: ENSMUSG00000038121
AA Change: T48A

Domain	Start	End	E-Value	Type
low complexity region	97	102	N/A	INTRINSIC

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.9%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit embryonic lethality after E9.5. Mice heterozygous for this allele exhibit decreased bone strength, compact bone thickness, compact bone volume, bone mineral density and bone ossification with increased osteoclasts. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A1cf	C	A	19: 31,870,507 (GRCm39)	S3*	probably null	Het
Adgrv1	C	T	13: 81,624,750 (GRCm39)	V3740I	probably benign	Het
Aida	T	C	1: 183,079,127 (GRCm39)	F22S	probably damaging	Het
Ankrd65	A	T	4: 155,876,528 (GRCm39)	D220V	probably damaging	Het
Antxr2	A	T	5: 98,123,209 (GRCm39)	C279*	probably null	Het
Ap3b1	T	C	13: 94,545,320 (GRCm39)	V191A	probably damaging	Het
Arhgef28	T	C	13: 98,117,884 (GRCm39)	K595E	probably benign	Het
Atp12a	A	G	14: 56,608,305 (GRCm39)	T98A	probably benign	Het
Cdcp1	A	T	9: 123,014,427 (GRCm39)	S116T	probably benign	Het
Chrm1	T	C	19: 8,656,582 (GRCm39)	F429S	possibly damaging	Het
Ckap5	C	A	2: 91,393,303 (GRCm39)	Q395K	possibly damaging	Het
Cntn4	T	A	6: 106,656,258 (GRCm39)	I853K	probably benign	Het
Cyp2g1	G	A	7: 26,509,107 (GRCm39)		probably null	Het
Dhx57	C	T	17: 80,553,157 (GRCm39)	V1257I	possibly damaging	Het
Disp1	A	T	1: 182,869,306 (GRCm39)	V1038D	probably damaging	Het
Dmxl2	A	T	9: 54,358,314 (GRCm39)	S462T	possibly damaging	Het
Dnaaf10	A	T	11: 17,177,183 (GRCm39)	E180D	probably benign	Het
Exoc3l	A	G	8: 106,019,692 (GRCm39)		probably null	Het
Fbxw5	G	A	2: 25,393,286 (GRCm39)		probably null	Het
Fkbp9	T	C	6: 56,850,434 (GRCm39)	C437R	probably damaging	Het
Gpc5	A	G	14: 115,636,691 (GRCm39)	K458R	probably benign	Het
Grik2	C	A	10: 49,120,439 (GRCm39)	G56*	probably null	Het
Igsf10	T	C	3: 59,238,706 (GRCm39)	T492A	probably damaging	Het
Kif1c	C	T	11: 70,619,223 (GRCm39)	L953F	probably damaging	Het
Lrrc51	T	C	7: 101,562,645 (GRCm39)	Y145C	probably damaging	Het
Lsmem1	GTACATACATACATACATACATACATACA	GTACATACATACATACATACATACATACATACA	12: 40,235,260 (GRCm39)		probably null	Het
Mapkbp1	A	T	2: 119,849,029 (GRCm39)	I682F	possibly damaging	Het
Mttp	A	T	3: 137,808,954 (GRCm39)	V718D	probably damaging	Het
Myt1l	T	A	12: 29,945,272 (GRCm39)	D1012E	unknown	Het
Nbn	G	A	4: 15,971,771 (GRCm39)	G301D	probably benign	Het
Ncstn	T	A	1: 171,894,339 (GRCm39)	S677C	possibly damaging	Het
Nod1	C	A	6: 54,921,218 (GRCm39)		probably null	Het
Nos1ap	A	G	1: 170,342,206 (GRCm39)	V52A	possibly damaging	Het
Or51f2	T	G	7: 102,526,863 (GRCm39)	Y179D	probably damaging	Het
Or52z14	T	A	7: 103,252,882 (GRCm39)	L7*	probably null	Het
Or5b98	T	A	19: 12,931,055 (GRCm39)	I34N	probably damaging	Het
Or5h23	T	A	16: 58,906,706 (GRCm39)	I47F	probably benign	Het
Phf13	T	C	4: 152,076,962 (GRCm39)	I77V	probably benign	Het
Pias2	A	G	18: 77,207,825 (GRCm39)	K230E	probably damaging	Het
Poli	A	G	18: 70,642,535 (GRCm39)	L469P	probably damaging	Het
Prag1	A	T	8: 36,607,177 (GRCm39)	T973S	possibly damaging	Het
Prpf40b	C	A	15: 99,203,442 (GRCm39)	H101Q	probably damaging	Het
Prss50	T	C	9: 110,691,557 (GRCm39)	V287A	possibly damaging	Het
Rbm25	C	T	12: 83,714,924 (GRCm39)		probably benign	Het
Rcor2	T	C	19: 7,246,337 (GRCm39)	V4A	probably damaging	Het
Rnf180	T	C	13: 105,407,499 (GRCm39)	T17A	probably benign	Het
Robo3	A	T	9: 37,340,440 (GRCm39)	V179E	probably damaging	Het
Sacs	T	A	14: 61,446,458 (GRCm39)	S2835T	probably damaging	Het
Serpinb3c	T	A	1: 107,199,432 (GRCm39)	H363L	probably damaging	Het
Setd1a	T	C	7: 127,395,841 (GRCm39)		probably benign	Het
Skp2	A	C	15: 9,125,201 (GRCm39)	V126G	probably benign	Het
Snph	G	A	2: 151,436,398 (GRCm39)	Q108*	probably null	Het
Snrpa1	T	A	7: 65,719,246 (GRCm39)	V144E	probably damaging	Het
Tifab	T	C	13: 56,324,248 (GRCm39)	E65G	probably damaging	Het
Tmem201	A	T	4: 149,804,032 (GRCm39)	Y468N	probably damaging	Het
Tpcn1	T	C	5: 120,687,580 (GRCm39)	N388S	possibly damaging	Het
Tssk4	A	G	14: 55,888,029 (GRCm39)	Q75R	probably null	Het
Tuba4a	T	C	1: 75,192,547 (GRCm39)	N356D	probably benign	Het
Ugt2b5	T	A	5: 87,287,477 (GRCm39)	D230V	probably benign	Het
Ush2a	T	C	1: 188,648,261 (GRCm39)	V4622A	probably benign	Het
Vmn2r11	T	G	5: 109,201,724 (GRCm39)	Y260S	possibly damaging	Het
Vmn2r89	C	A	14: 51,693,693 (GRCm39)	H348N	possibly damaging	Het
Vmn2r96	A	T	17: 18,817,988 (GRCm39)	M714L	probably benign	Het
Zbtb18	T	C	1: 177,275,329 (GRCm39)	S221P	probably benign	Het
Zfp418	A	G	7: 7,184,789 (GRCm39)	T251A	probably benign	Het
Zmynd15	A	G	11: 70,354,328 (GRCm39)	Y267C	probably damaging	Het

Other mutations in Fam210a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00490:Fam210a	APN	18	68,401,983 (GRCm39)	missense	probably damaging	1.00
IGL00500:Fam210a	APN	18	68,408,854 (GRCm39)	missense	possibly damaging	0.70
PIT4519001:Fam210a	UTSW	18	68,409,020 (GRCm39)	missense	possibly damaging	0.92
R4988:Fam210a	UTSW	18	68,409,218 (GRCm39)	missense	probably benign	0.17
R8885:Fam210a	UTSW	18	68,409,215 (GRCm39)	missense	probably benign
R9075:Fam210a	UTSW	18	68,405,693 (GRCm39)	missense	probably damaging	1.00
R9557:Fam210a	UTSW	18	68,408,848 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GGATGTGGAACTGGAAGATAAAACCCTC -3'
(R):5'- TCTGTACTCAGGATTTGTGCTCCATTG -3'

Sequencing Primer
(F):5'- ACCCTCTTGGATAAAATGTCCTG -3'
(R):5'- TGATCACCATTGGCGCAT -3'

Posted On

2014-05-09