Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Fam20a'

571824

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

FAM20A, golgi associated secretory pathway pseudokinase

Synonyms

MMRRC Submission

045450-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

109563752-109613989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 109564168 bp (GRCm39)

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

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
1700030K09Rik	C	T	8: 73,203,303 (GRCm39)	P244S	possibly damaging	Het
4930562C15Rik	A	G	16: 4,653,633 (GRCm39)	I61V	unknown	Het
Abcb11	C	T	2: 69,130,211 (GRCm39)	D282N	probably damaging	Het
Acbd3	A	G	1: 180,562,064 (GRCm39)	E181G	probably benign	Het
Ano3	T	C	2: 110,587,412 (GRCm39)	Y43C	probably damaging	Het
Aspa	T	A	11: 73,210,716 (GRCm39)		probably null	Het
AU018091	A	T	7: 3,206,170 (GRCm39)	N620K	probably damaging	Het
Bicc1	G	T	10: 70,779,216 (GRCm39)	T724K	probably benign	Het
Bmper	T	C	9: 23,395,300 (GRCm39)	I677T	probably damaging	Het
C3	T	A	17: 57,528,162 (GRCm39)	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,887,332 (GRCm39)	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,339,541 (GRCm39)	E462*	probably null	Het
Ccdc88c	C	A	12: 100,911,209 (GRCm39)	R875L	possibly damaging	Het
Cd177	C	T	7: 24,456,147 (GRCm39)	G207D	probably damaging	Het
Cdh23	A	T	10: 60,151,471 (GRCm39)	Y2471*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Cmbl	A	T	15: 31,590,002 (GRCm39)	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919 (GRCm39)	V448A	probably damaging	Het
Ddr2	A	G	1: 169,825,533 (GRCm39)	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,228,849 (GRCm39)	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,922,717 (GRCm39)	I481L	probably benign	Het
Dlst	A	T	12: 85,175,089 (GRCm39)	I260L	probably benign	Het
Dnajc13	T	G	9: 104,061,905 (GRCm39)	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,184,943 (GRCm39)	Y520C	probably damaging	Het
Dr1	C	A	5: 108,423,594 (GRCm39)	A127E	unknown	Het
Dsel	C	T	1: 111,789,303 (GRCm39)	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770 (GRCm39)	C628R	probably damaging	Het
Edem3	T	A	1: 151,688,365 (GRCm39)		probably null	Het
Efcab15	T	C	11: 103,098,944 (GRCm39)		probably null	Het
Fanca	T	C	8: 124,007,952 (GRCm39)	E981G	probably benign	Het
Fbp2	A	G	13: 62,985,012 (GRCm39)	V303A	possibly damaging	Het
Flii	C	T	11: 60,611,945 (GRCm39)	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,676,584 (GRCm39)	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525 (GRCm38)	H72L	probably benign	Het
Gm5114	T	G	7: 39,058,768 (GRCm39)	T284P	possibly damaging	Het
Gm7168	T	C	17: 14,170,147 (GRCm39)	S505P	probably damaging	Het
Gnal	T	C	18: 67,344,142 (GRCm39)	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,294,603 (GRCm39)	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 119,955,108 (GRCm39)	1141	probably null	Het
Il3	T	A	11: 54,156,709 (GRCm39)	R93S	probably benign	Het
Itsn1	A	G	16: 91,705,338 (GRCm39)	E1573G	unknown	Het
Kif26a	G	A	12: 112,129,976 (GRCm39)		probably null	Het
Klb	T	C	5: 65,529,774 (GRCm39)	M434T	probably damaging	Het
Lrp2	T	A	2: 69,314,150 (GRCm39)	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,427,781 (GRCm39)	P1604T	probably damaging	Het
Mak16	A	G	8: 31,656,127 (GRCm39)	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,745,192 (GRCm39)	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,164,580 (GRCm39)	I1186V	probably benign	Het
Mboat1	T	A	13: 30,386,345 (GRCm39)	C120S	possibly damaging	Het
Mctp2	T	A	7: 71,908,962 (GRCm39)	D117V	probably benign	Het
Mocos	C	A	18: 24,809,673 (GRCm39)	N425K	probably damaging	Het
Nav2	A	G	7: 49,203,951 (GRCm39)		probably null	Het
Ngfr	A	T	11: 95,465,255 (GRCm39)	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290 (GRCm39)	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,479,608 (GRCm39)	S596G	probably damaging	Het
Or2ag1	G	T	7: 106,472,603 (GRCm39)	P283Q	probably damaging	Het
Or51g1	A	T	7: 102,633,723 (GRCm39)	I216K	probably damaging	Het
Or52e3	T	G	7: 102,869,740 (GRCm39)	Y272D	probably benign	Het
Or5v1b	T	A	17: 37,841,708 (GRCm39)	V280D	probably damaging	Het
Or6b3	A	G	1: 92,439,400 (GRCm39)	S117P	possibly damaging	Het
Pithd1	T	C	4: 135,714,361 (GRCm39)	Y29C	probably benign	Het
Plcb3	T	C	19: 6,939,389 (GRCm39)	T530A	probably benign	Het
Prss40	A	T	1: 34,598,952 (GRCm39)	Y70*	probably null	Het
Ralgps1	T	C	2: 33,214,700 (GRCm39)	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,113,410 (GRCm39)	R36H	possibly damaging	Het
Rnf125	A	G	18: 21,107,490 (GRCm39)	N7S	not run	Het
Rpe65	G	A	3: 159,330,366 (GRCm39)	S511N	probably benign	Het
Rspo4	A	T	2: 151,709,793 (GRCm39)	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,071,573 (GRCm39)	S437P	probably benign	Het
Sele	C	A	1: 163,876,288 (GRCm39)	R12S	probably benign	Het
Sgo2b	T	A	8: 64,391,451 (GRCm39)	K139*	probably null	Het
Shroom3	C	A	5: 93,112,465 (GRCm39)	S1942*	probably null	Het
Slc12a9	G	A	5: 137,326,885 (GRCm39)	R191*	probably null	Het
Spag9	G	T	11: 93,999,347 (GRCm39)	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,650,968 (GRCm39)	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,360,823 (GRCm39)		probably null	Het
Sult2a8	A	T	7: 14,150,254 (GRCm39)		probably null	Het
Synpo2	A	G	3: 122,907,690 (GRCm39)	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,881,914 (GRCm39)		probably null	Het
Tektip1	T	C	10: 81,200,025 (GRCm39)	D165G	possibly damaging	Het
Tenm2	T	C	11: 35,960,241 (GRCm39)	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,593,261 (GRCm39)	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,478,897 (GRCm39)	N62K	probably damaging	Het
Tollip	A	G	7: 141,443,334 (GRCm39)	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,313,027 (GRCm39)	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,258,713 (GRCm39)	S58P	probably benign	Het
Ttc9b	T	C	7: 27,354,384 (GRCm39)	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,199,871 (GRCm39)	Y185C	probably damaging	Het
Ubr2	C	T	17: 47,266,771 (GRCm39)	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,569,461 (GRCm39)		probably benign	Het
Yipf3	T	A	17: 46,559,855 (GRCm39)	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,289,606 (GRCm39)	C19G	probably damaging	Het
Zfp735	A	T	11: 73,602,979 (GRCm39)	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,389,571 (GRCm39)	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,184,671 (GRCm39)		probably null	Het

Other mutations in Fam20a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00827:Fam20a	APN	11	109,568,588 (GRCm39)	splice site	probably benign
IGL01296:Fam20a	APN	11	109,576,177 (GRCm39)	missense	possibly damaging	0.93
IGL01319:Fam20a	APN	11	109,569,284 (GRCm39)	splice site	probably benign
IGL01322:Fam20a	APN	11	109,573,738 (GRCm39)	missense	probably damaging	1.00
IGL02086:Fam20a	APN	11	109,564,239 (GRCm39)	missense	probably benign	0.00
IGL02563:Fam20a	APN	11	109,568,620 (GRCm39)	missense	possibly damaging	0.53
IGL02883:Fam20a	APN	11	109,565,953 (GRCm39)	missense	probably damaging	0.99
IGL02893:Fam20a	APN	11	109,612,414 (GRCm39)	missense	probably benign	0.00
Infamy	UTSW	11	109,564,168 (GRCm39)	missense	possibly damaging	0.87
snide	UTSW	11	109,612,201 (GRCm39)	missense	possibly damaging	0.92
ungainly	UTSW	11	109,573,696 (GRCm39)	nonsense	probably null
P0026:Fam20a	UTSW	11	109,566,667 (GRCm39)	critical splice donor site	probably null
R0726:Fam20a	UTSW	11	109,568,020 (GRCm39)	missense	probably damaging	1.00
R1317:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1462:Fam20a	UTSW	11	109,568,143 (GRCm39)	missense	probably damaging	1.00
R1462:Fam20a	UTSW	11	109,568,143 (GRCm39)	missense	probably damaging	1.00
R1751:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1761:Fam20a	UTSW	11	109,568,664 (GRCm39)	missense	probably damaging	0.99
R1889:Fam20a	UTSW	11	109,564,380 (GRCm39)	missense	probably benign	0.30
R1895:Fam20a	UTSW	11	109,564,380 (GRCm39)	missense	probably benign	0.30
R1971:Fam20a	UTSW	11	109,576,237 (GRCm39)	missense	probably damaging	1.00
R2192:Fam20a	UTSW	11	109,565,449 (GRCm39)	missense	probably benign	0.13
R3745:Fam20a	UTSW	11	109,568,616 (GRCm39)	missense	probably benign	0.17
R4684:Fam20a	UTSW	11	109,612,513 (GRCm39)	missense	unknown
R4835:Fam20a	UTSW	11	109,564,389 (GRCm39)	missense	probably benign	0.40
R5045:Fam20a	UTSW	11	109,568,711 (GRCm39)	missense	probably benign	0.38
R5161:Fam20a	UTSW	11	109,564,196 (GRCm39)	missense	probably benign	0.00
R5715:Fam20a	UTSW	11	109,569,257 (GRCm39)	missense	probably damaging	1.00
R5817:Fam20a	UTSW	11	109,564,244 (GRCm39)	missense	possibly damaging	0.81
R5960:Fam20a	UTSW	11	109,566,795 (GRCm39)	intron	probably benign
R6162:Fam20a	UTSW	11	109,573,696 (GRCm39)	nonsense	probably null
R6312:Fam20a	UTSW	11	109,565,456 (GRCm39)	missense	probably damaging	1.00
R7231:Fam20a	UTSW	11	109,612,201 (GRCm39)	missense	possibly damaging	0.92
R7311:Fam20a	UTSW	11	109,565,454 (GRCm39)	nonsense	probably null
R8013:Fam20a	UTSW	11	109,576,332 (GRCm39)	missense	possibly damaging	0.92
R8014:Fam20a	UTSW	11	109,576,332 (GRCm39)	missense	possibly damaging	0.92
R9086:Fam20a	UTSW	11	109,566,754 (GRCm39)	nonsense	probably null
R9751:Fam20a	UTSW	11	109,565,992 (GRCm39)	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