Mutagenetix > Incidental Mutation

Incidental Mutation 'R4835:Fam20a'

434657

Institutional Source

Beutler Lab

Gene Symbol

Fam20a

Ensembl Gene

ENSMUSG00000020614

Gene Name

FAM20A, golgi associated secretory pathway pseudokinase

Synonyms

MMRRC Submission

042450-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4835 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

109563752-109613989 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 109564389 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 455 (I455V)

Ref Sequence

ENSEMBL: ENSMUSP00000116687 (fasta)

Gene Model

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

AlphaFold

Q8CID3

Predicted Effect

probably benign
Transcript: ENSMUST00000020938
AA Change: I455V

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000020938
Gene: ENSMUSG00000020614
AA Change: I455V

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

noncoding transcript
Transcript: ENSMUST00000144972

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146408

Predicted Effect

probably benign
Transcript: ENSMUST00000155559
AA Change: I455V

PolyPhen 2 Score 0.399 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000116687
Gene: ENSMUSG00000020614
AA Change: I455V

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

0.2744

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 93.8%

Validation Efficiency

98% (96/98)

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	A	T	7: 29,274,326 (GRCm39)		noncoding transcript	Het
4933434E20Rik	A	G	3: 89,970,516 (GRCm39)	N17D	probably benign	Het
A1bg	T	C	15: 60,792,100 (GRCm39)	D176G	probably benign	Het
Abcg5	A	T	17: 84,966,076 (GRCm39)	M428K	possibly damaging	Het
Adam1a	A	T	5: 121,657,752 (GRCm39)	C514S	probably damaging	Het
Angptl3	A	G	4: 98,925,649 (GRCm39)	Q325R	probably benign	Het
Ankrd26	C	T	6: 118,525,811 (GRCm39)	W378*	probably null	Het
Apob	T	C	12: 8,065,391 (GRCm39)	V4087A	possibly damaging	Het
Auts2	A	G	5: 131,494,931 (GRCm39)	I117T	probably damaging	Het
AW146154	T	A	7: 41,129,892 (GRCm39)	E408V	probably damaging	Het
Bicd1	A	T	6: 149,385,588 (GRCm39)	N107I	probably benign	Het
Blm	T	C	7: 80,159,294 (GRCm39)	S281G	probably benign	Het
Btaf1	T	A	19: 36,979,858 (GRCm39)	D1542E	probably benign	Het
C2cd2l	A	G	9: 44,226,442 (GRCm39)		probably null	Het
Capn8	C	A	1: 182,432,116 (GRCm39)	N362K	probably damaging	Het
Ccdc14	T	G	16: 34,525,408 (GRCm39)	S186A	probably damaging	Het
Cdca4	A	G	12: 112,785,167 (GRCm39)	L187P	probably damaging	Het
Chil6	T	A	3: 106,313,290 (GRCm39)	K20*	probably null	Het
Cmss1	A	T	16: 57,136,545 (GRCm39)	L109*	probably null	Het
Cmtm6	G	T	9: 114,560,410 (GRCm39)	W36L	probably benign	Het
Cnksr3	T	G	10: 7,110,757 (GRCm39)	I35L	possibly damaging	Het
Col4a2	G	T	8: 11,473,570 (GRCm39)	G534*	probably null	Het
Col5a1	T	G	2: 27,915,656 (GRCm39)	V180G	probably damaging	Het
Ctnna3	T	C	10: 63,417,723 (GRCm39)	F154L	probably benign	Het
Fabp7	G	A	10: 57,661,676 (GRCm39)	V50M	possibly damaging	Het
Fam170a	T	A	18: 50,415,050 (GRCm39)	V232D	probably damaging	Het
Fam186a	T	G	15: 99,843,689 (GRCm39)	T852P	unknown	Het
Fbxl6	C	T	15: 76,421,004 (GRCm39)	V324M	probably damaging	Het
Galnt18	T	C	7: 111,378,730 (GRCm39)	T9A	probably damaging	Het
Golgb1	T	A	16: 36,711,769 (GRCm39)	M191K	possibly damaging	Het
Gpld1	A	G	13: 25,166,699 (GRCm39)	T650A	probably benign	Het
Gprc5d	A	G	6: 135,093,515 (GRCm39)	F131L	probably benign	Het
H2az2	C	T	11: 6,389,437 (GRCm39)	G7E	unknown	Het
Haus4	A	T	14: 54,783,292 (GRCm39)		probably null	Het
Helq	A	G	5: 100,922,029 (GRCm39)	I725T	possibly damaging	Het
Igsf23	T	A	7: 19,675,755 (GRCm39)	D117V	possibly damaging	Het
Kiz	A	T	2: 146,784,008 (GRCm39)	S514C	probably damaging	Het
Klhl6	A	T	16: 19,775,783 (GRCm39)	N258K	probably benign	Het
Krt72	G	C	15: 101,689,508 (GRCm39)		probably null	Het
Large1	A	T	8: 73,774,975 (GRCm39)	I245N	probably damaging	Het
Lrrc31	T	C	3: 30,733,306 (GRCm39)	I469M	probably damaging	Het
Lypd4	T	A	7: 24,566,121 (GRCm39)	I68F	probably benign	Het
Mast1	A	G	8: 85,650,408 (GRCm39)	S442P	probably damaging	Het
Mmp20	T	A	9: 7,645,300 (GRCm39)	H283Q	probably benign	Het
Mrps5	G	A	2: 127,445,627 (GRCm39)	V385M	possibly damaging	Het
Ms4a15	T	C	19: 10,956,590 (GRCm39)	K241E	possibly damaging	Het
Myt1	A	G	2: 181,439,255 (GRCm39)	E259G	probably damaging	Het
Myt1l	C	A	12: 29,945,304 (GRCm39)	T1023K	unknown	Het
Ncapd3	T	C	9: 26,997,342 (GRCm39)	L1221P	probably damaging	Het
Ncoa6	A	G	2: 155,249,053 (GRCm39)	V1417A	possibly damaging	Het
Nmnat1	A	G	4: 149,557,802 (GRCm39)	V80A	possibly damaging	Het
Nwd2	A	G	5: 63,965,189 (GRCm39)	E1591G	probably benign	Het
Or10ac1	A	G	6: 42,515,770 (GRCm39)	F62S	probably damaging	Het
Or8j3b	A	G	2: 86,204,853 (GRCm39)	L301S	possibly damaging	Het
Osbpl1a	A	T	18: 12,901,593 (GRCm39)		probably null	Het
Papln	T	C	12: 83,821,194 (GRCm39)	I204T	probably damaging	Het
Phf1	A	G	17: 27,153,652 (GRCm39)	T97A	probably benign	Het
Plxnb1	A	G	9: 108,934,442 (GRCm39)	D890G	probably damaging	Het
Ppp1r12b	G	T	1: 134,883,471 (GRCm39)	A17E	probably benign	Het
Ptgir	A	G	7: 16,640,794 (GRCm39)	M29V	possibly damaging	Het
Rbp2	G	A	9: 98,389,876 (GRCm39)	C96Y	probably damaging	Het
Rgmb	A	T	17: 16,027,624 (GRCm39)	M365K	possibly damaging	Het
Ric1	A	G	19: 29,572,936 (GRCm39)	N792S	possibly damaging	Het
Ruvbl1	T	C	6: 88,474,211 (GRCm39)	Y405H	possibly damaging	Het
Scaf4	A	G	16: 90,047,195 (GRCm39)	M394T	unknown	Het
Siglech	T	A	7: 55,418,177 (GRCm39)	C48*	probably null	Het
Skic2	A	G	17: 35,061,897 (GRCm39)	V695A	possibly damaging	Het
Slc2a5	A	G	4: 150,224,462 (GRCm39)	T320A	probably benign	Het
Slc6a7	T	C	18: 61,135,277 (GRCm39)	Y417C	probably benign	Het
Sox21	A	G	14: 118,472,336 (GRCm39)	C238R	possibly damaging	Het
Tbata	A	T	10: 61,019,132 (GRCm39)	K109N	probably damaging	Het
Tecpr2	T	G	12: 110,921,164 (GRCm39)	S1246A	probably benign	Het
Tekt3	A	G	11: 62,972,085 (GRCm39)	D247G	probably benign	Het
Tenm3	A	T	8: 48,766,271 (GRCm39)		probably null	Het
Thada	A	T	17: 84,748,532 (GRCm39)		probably null	Het
Tpcn2	C	T	7: 144,826,088 (GRCm39)	G204R	probably damaging	Het
Tpm2	T	C	4: 43,519,220 (GRCm39)		probably null	Het
Trbv24	T	C	6: 41,195,026 (GRCm39)		probably benign	Het
Tyw1	A	G	5: 130,305,899 (GRCm39)	R341G	probably benign	Het
Vmn1r183	T	G	7: 23,754,564 (GRCm39)	N122K	probably benign	Het
Vmn2r61	T	A	7: 41,916,459 (GRCm39)	H357Q	possibly damaging	Het
Vps13b	C	T	15: 35,869,518 (GRCm39)	T2674I	probably damaging	Het
Vps13b	T	C	15: 35,910,439 (GRCm39)	L3401P	probably benign	Het
Vps16	T	G	2: 130,280,220 (GRCm39)		probably benign	Het
Vrtn	T	A	12: 84,696,468 (GRCm39)	I406N	probably damaging	Het
Vwa8	A	T	14: 79,172,053 (GRCm39)	Y278F	probably benign	Het
Washc4	A	T	10: 83,415,376 (GRCm39)	I789F	possibly damaging	Het
Zbtb20	C	A	16: 43,438,761 (GRCm39)	T627K	probably damaging	Het
Zfyve16	A	T	13: 92,658,693 (GRCm39)	I406K	probably benign	Het
Zfyve9	A	C	4: 108,575,195 (GRCm39)	S629A	possibly damaging	Het
Zpld1	A	T	16: 55,068,618 (GRCm39)	N164K	probably damaging	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
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
R7366:Fam20a	UTSW	11	109,564,168 (GRCm39)	missense	possibly damaging	0.87
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'- AACGTTGTGCTGACCCTTCG -3'
(R):5'- ACTGGAAGTTTGTTCTGTCAGC -3'

Sequencing Primer
(F):5'- TGGGCCTCTATGCAGTCC -3'
(R):5'- CAAACCTTAAGTCAGTCAGTCTCTG -3'

Posted On

2016-10-20