Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Fam20a'

571824

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

family with sequence similarity 20, member A

Synonyms

MMRRC Submission

Accession Numbers

Ncbi RefSeq: NM_153782.1; MGI:2388266

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109669749-109722279 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109673342 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Histidine at position 528 (Q528H)

Ref Sequence

ENSEMBL: ENSMUSP00000020938 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020938] [ENSMUST00000049527] [ENSMUST00000106677] [ENSMUST00000155559]

AlphaFold

Q8CID3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020938
AA Change: Q528H

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: Q528H

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
Pfam:Fam20C	306	522	8.9e-101	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000049527

SMART Domains

Protein: ENSMUSP00000056500
Gene: ENSMUSG00000020612

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
RIIa	25	62	7.54e-15	SMART
cNMP	137	253	2.99e-32	SMART
cNMP	255	374	1.74e-33	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000106677

SMART Domains

Protein: ENSMUSP00000102288
Gene: ENSMUSG00000020612

Domain	Start	End	E-Value	Type
low complexity region	9	20	N/A	INTRINSIC
RIIa	25	62	7.54e-15	SMART
cNMP	137	253	2.99e-32	SMART
cNMP	255	374	1.74e-33	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000155559
AA Change: Q528H

PolyPhen 2 Score 0.868 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: Q528H

Domain	Start	End	E-Value	Type
transmembrane domain	9	28	N/A	INTRINSIC
low complexity region	50	61	N/A	INTRINSIC
Pfam:DUF1193	305	525	3.2e-103	PFAM

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

MGI Phenotype

Strain: 5432376
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This locus encodes a protein that is likely secreted and may function in hematopoiesis. A mutation at this locus has been associated with amelogenesis imperfecta and gingival hyperplasia syndrome. Alternatively spliced transcript variants have been identified. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit abnormal ameloblast morphology, disrupted dental enamel formation in both incisor and molar teeth, abnormal kidney morphology, disseminated calcifications of muscular arteries, and intrapulmonary calcifications. [provided by MGI curators]

Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,208,118		probably null	Het
1700030K09Rik	C	T	8: 72,449,459	P244S	possibly damaging	Het
4930404N11Rik	T	C	10: 81,364,191	D165G	possibly damaging	Het
4930562C15Rik	A	G	16: 4,835,769	I61V	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Acbd3	A	G	1: 180,734,499	E181G	probably benign	Het
Ano3	T	C	2: 110,757,067	Y43C	probably damaging	Het
Aspa	T	A	11: 73,319,890		probably null	Het
AU018091	A	T	7: 3,156,330	N620K	probably damaging	Het
Bicc1	G	T	10: 70,943,386	T724K	probably benign	Het
Bmper	T	C	9: 23,484,004	I677T	probably damaging	Het
C3	T	A	17: 57,221,162	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,729,990	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,300,382	E462*	probably null	Het
Ccdc88c	C	A	12: 100,944,950	R875L	possibly damaging	Het
Cd177	C	T	7: 24,756,722	G207D	probably damaging	Het
Cdh23	A	T	10: 60,315,692	Y2471*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cmbl	A	T	15: 31,589,856	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919	V448A	probably damaging	Het
Ddr2	A	G	1: 169,997,964	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,523,212	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,917,906	I481L	probably benign	Het
Dlst	A	T	12: 85,128,315	I260L	probably benign	Het
Dnajc13	T	G	9: 104,184,706	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,354,599	Y520C	probably damaging	Het
Dr1	C	A	5: 108,275,728	A127E	unknown	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770	C628R	probably damaging	Het
Edem3	T	A	1: 151,812,614		probably null	Het
Fanca	T	C	8: 123,281,213	E981G	probably benign	Het
Fbp2	A	G	13: 62,837,198	V303A	possibly damaging	Het
Flii	C	T	11: 60,721,119	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,785,758	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525	H72L	probably benign	Het
Gm5114	T	G	7: 39,409,344	T284P	possibly damaging	Het
Gm7168	T	C	17: 13,949,885	S505P	probably damaging	Het
Gnal	T	C	18: 67,211,071	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,265,749	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Il3	T	A	11: 54,265,883	R93S	probably benign	Het
Itsn1	A	G	16: 91,908,450	E1573G	unknown	Het
Kif26a	G	A	12: 112,163,542		probably null	Het
Klb	T	C	5: 65,372,431	M434T	probably damaging	Het
Lrp2	T	A	2: 69,483,806	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Mak16	A	G	8: 31,166,099	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,817,455	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,274,568	I1186V	probably benign	Het
Mboat1	T	A	13: 30,202,362	C120S	possibly damaging	Het
Mctp2	T	A	7: 72,259,214	D117V	probably benign	Het
Mocos	C	A	18: 24,676,616	N425K	probably damaging	Het
Nav2	A	G	7: 49,554,203		probably null	Het
Ngfr	A	T	11: 95,574,429	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,502,964	S596G	probably damaging	Het
Olfr111	T	A	17: 37,530,817	V280D	probably damaging	Het
Olfr1414	A	G	1: 92,511,678	S117P	possibly damaging	Het
Olfr578	A	T	7: 102,984,516	I216K	probably damaging	Het
Olfr594	T	G	7: 103,220,533	Y272D	probably benign	Het
Olfr705	G	T	7: 106,873,396	P283Q	probably damaging	Het
Pithd1	T	C	4: 135,987,050	Y29C	probably benign	Het
Plcb3	T	C	19: 6,962,021	T530A	probably benign	Het
Prss40	A	T	1: 34,559,871	Y70*	probably null	Het
Ralgps1	T	C	2: 33,324,688	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,124,962	R36H	possibly damaging	Het
Rnf125	A	G	18: 20,974,433	N7S	not run	Het
Rpe65	G	A	3: 159,624,729	S511N	probably benign	Het
Rspo4	A	T	2: 151,867,873	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,422,149	S437P	probably benign	Het
Sele	C	A	1: 164,048,719	R12S	probably benign	Het
Sgo2b	T	A	8: 63,938,417	K139*	probably null	Het
Shroom3	C	A	5: 92,964,606	S1942*	probably null	Het
Slc12a9	G	A	5: 137,328,623	R191*	probably null	Het
Spag9	G	T	11: 94,108,521	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,604,194	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,314,049		probably null	Het
Sult2a8	A	T	7: 14,416,329		probably null	Het
Synpo2	A	G	3: 123,114,041	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,915,480		probably null	Het
Tenm2	T	C	11: 36,069,414	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,171,897	N62K	probably damaging	Het
Tollip	A	G	7: 141,889,597	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,471,107	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,374,513	S58P	probably benign	Het
Ttc9b	T	C	7: 27,654,959	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,222,912	Y185C	probably damaging	Het
Ubr2	C	T	17: 46,955,845	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Yipf3	T	A	17: 46,248,929	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,590,181	C19G	probably damaging	Het
Zfp735	A	T	11: 73,712,153	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,232,227	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,273,373		probably null	Het

Other mutations in Fam20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Fam20a	APN	11	109677762	splice site	probably benign
IGL01296:Fam20a	APN	11	109685351	missense	possibly damaging	0.93
IGL01319:Fam20a	APN	11	109678458	splice site	probably benign
IGL01322:Fam20a	APN	11	109682912	missense	probably damaging	1.00
IGL02086:Fam20a	APN	11	109673413	missense	probably benign	0.00
IGL02563:Fam20a	APN	11	109677794	missense	possibly damaging	0.53
IGL02883:Fam20a	APN	11	109675127	missense	probably damaging	0.99
IGL02893:Fam20a	APN	11	109721588	missense	probably benign	0.00
Infamy	UTSW	11	109673342	missense	possibly damaging	0.87
snide	UTSW	11	109721375	missense	possibly damaging	0.92
ungainly	UTSW	11	109682870	nonsense	probably null
P0026:Fam20a	UTSW	11	109675841	critical splice donor site	probably null
R0726:Fam20a	UTSW	11	109677194	missense	probably damaging	1.00
R1317:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1462:Fam20a	UTSW	11	109677317	missense	probably damaging	1.00
R1462:Fam20a	UTSW	11	109677317	missense	probably damaging	1.00
R1751:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1761:Fam20a	UTSW	11	109677838	missense	probably damaging	0.99
R1889:Fam20a	UTSW	11	109673554	missense	probably benign	0.30
R1895:Fam20a	UTSW	11	109673554	missense	probably benign	0.30
R1971:Fam20a	UTSW	11	109685411	missense	probably damaging	1.00
R2192:Fam20a	UTSW	11	109674623	missense	probably benign	0.13
R3745:Fam20a	UTSW	11	109677790	missense	probably benign	0.17
R4684:Fam20a	UTSW	11	109721687	missense	unknown
R4835:Fam20a	UTSW	11	109673563	missense	probably benign	0.40
R5045:Fam20a	UTSW	11	109677885	missense	probably benign	0.38
R5161:Fam20a	UTSW	11	109673370	missense	probably benign	0.00
R5715:Fam20a	UTSW	11	109678431	missense	probably damaging	1.00
R5817:Fam20a	UTSW	11	109673418	missense	possibly damaging	0.81
R5960:Fam20a	UTSW	11	109675969	intron	probably benign
R6162:Fam20a	UTSW	11	109682870	nonsense	probably null
R6312:Fam20a	UTSW	11	109674630	missense	probably damaging	1.00
R7231:Fam20a	UTSW	11	109721375	missense	possibly damaging	0.92
R7311:Fam20a	UTSW	11	109674628	nonsense	probably null
R8013:Fam20a	UTSW	11	109685506	missense	possibly damaging	0.92
R8014:Fam20a	UTSW	11	109685506	missense	possibly damaging	0.92
R9086:Fam20a	UTSW	11	109675928	nonsense	probably null
R9751:Fam20a	UTSW	11	109675166	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCAGTGGATCCCGTTTGCC -3'
(R):5'- AACACTCTTGCACCTTCAGCTG -3'

Sequencing Primer
(F):5'- GGATCCCGTTTGCCTTTTTCAAAG -3'
(R):5'- TGGCTCAGGCTGACTACAG -3'

Posted On

2019-09-13