Mutagenetix > Incidental Mutation

Incidental Mutation 'R7044:Fam207a'

547217

Institutional Source

Beutler Lab

Gene Symbol

Fam207a

Ensembl Gene

ENSMUSG00000032977

Gene Name

family with sequence similarity 207, member A

Synonyms

MMRRC Submission

045143-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7044 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

77486661-77515785 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 77514392 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 35 (D35G)

Ref Sequence

ENSEMBL: ENSMUSP00000151768 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045454] [ENSMUST00000218414]

AlphaFold

P58468

Predicted Effect

probably benign
Transcript: ENSMUST00000045454
AA Change: D54G

PolyPhen 2 Score 0.025 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000036382
Gene: ENSMUSG00000032977
AA Change: D54G

Domain	Start	End	E-Value	Type
low complexity region	4	17	N/A	INTRINSIC
Pfam:SLX9	87	210	8e-27	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000218414
AA Change: D35G

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

98% (40/41)

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010300C02Rik	C	T	1: 37,612,280 (GRCm38)	D1169N	possibly damaging	Het
Ankrd6	T	A	4: 32,815,260 (GRCm38)	Q448L	possibly damaging	Het
Appl1	A	G	14: 26,928,677 (GRCm38)	S513P	possibly damaging	Het
Cdhr2	A	T	13: 54,733,321 (GRCm38)	K1066*	probably null	Het
Ckap5	T	C	2: 91,577,601 (GRCm38)	I824T	probably benign	Het
Ctbp2	T	C	7: 133,015,102 (GRCm38)	R35G	possibly damaging	Het
Dcdc2c	T	C	12: 28,470,494 (GRCm38)		probably benign	Het
Eya1	T	A	1: 14,231,410 (GRCm38)		probably null	Het
Fam105a	A	G	15: 27,657,235 (GRCm38)		probably benign	Het
Fat4	G	C	3: 39,010,810 (GRCm38)	A4972P	probably benign	Het
Fat4	C	T	3: 39,010,811 (GRCm38)	A4972V	probably benign	Het
Fbxl8	T	A	8: 105,267,015 (GRCm38)	M1K	probably null	Het
Glyat	T	C	19: 12,650,265 (GRCm38)	S75P	probably benign	Het
Gm3543	T	A	14: 41,980,066 (GRCm38)	I154F	probably damaging	Het
Gm4565	T	A	7: 22,583,370 (GRCm38)	M8L	probably benign	Het
Gpr179	T	C	11: 97,349,790 (GRCm38)	Q269R	probably benign	Het
Hfe2	C	A	3: 96,527,474 (GRCm38)	H176Q	possibly damaging	Het
Ikzf2	T	C	1: 69,538,901 (GRCm38)	H483R	possibly damaging	Het
Il25	G	A	14: 54,933,158 (GRCm38)	A63T	probably benign	Het
Krt27	T	A	11: 99,346,814 (GRCm38)	N366I	probably benign	Het
Mfge8	A	G	7: 79,142,520 (GRCm38)	V219A	probably benign	Het
Nrbp1	T	C	5: 31,249,946 (GRCm38)	V373A	probably damaging	Het
Olfr1186	A	G	2: 88,526,486 (GRCm38)	N301S	probably benign	Het
Pcdh20	A	G	14: 88,469,171 (GRCm38)	I231T	probably damaging	Het
Pfkp	A	G	13: 6,581,567 (GRCm38)	W151R	probably damaging	Het
Pikfyve	T	C	1: 65,246,854 (GRCm38)	I1084T	probably benign	Het
Poteg	T	C	8: 27,449,895 (GRCm38)	C27R	probably damaging	Het
Ptprz1	G	A	6: 23,044,346 (GRCm38)	V1266M	probably damaging	Het
Rpa1	T	C	11: 75,312,802 (GRCm38)	D358G	probably damaging	Het
Snapc4	A	G	2: 26,369,953 (GRCm38)	S495P	probably damaging	Het
Surf6	A	G	2: 26,899,356 (GRCm38)	I123T	probably damaging	Het
Sybu	A	T	15: 44,677,695 (GRCm38)	S324T	possibly damaging	Het
Trim3	A	T	7: 105,618,214 (GRCm38)	S319R	probably damaging	Het
Trmt11	A	G	10: 30,590,934 (GRCm38)	F72L	probably benign	Het
Tsks	C	T	7: 44,943,792 (GRCm38)	R61W	probably damaging	Het
Ube2k	T	C	5: 65,581,429 (GRCm38)	V36A	possibly damaging	Het
Ube3a	T	C	7: 59,288,413 (GRCm38)	V688A	probably damaging	Het
Vegfc	A	G	8: 54,157,045 (GRCm38)	K79E	possibly damaging	Het
Vmn1r77	G	A	7: 12,041,834 (GRCm38)	R179Q	probably benign	Het
Vmn2r97	T	A	17: 18,914,367 (GRCm38)	F16I	probably benign	Het
Zfp451	A	T	1: 33,802,167 (GRCm38)		probably benign	Het
Zfp600	C	T	4: 146,195,322 (GRCm38)	Q187*	probably null	Het

Other mutations in Fam207a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02479:Fam207a	APN	10	77,514,327 (GRCm38)	missense	probably damaging	1.00
R1468:Fam207a	UTSW	10	77,497,526 (GRCm38)	splice site	probably benign
R4050:Fam207a	UTSW	10	77,514,330 (GRCm38)	missense	possibly damaging	0.86
R4654:Fam207a	UTSW	10	77,490,026 (GRCm38)	missense	possibly damaging	0.95
R4996:Fam207a	UTSW	10	77,515,533 (GRCm38)	missense	probably null
R5001:Fam207a	UTSW	10	77,490,016 (GRCm38)	missense	probably benign
R8088:Fam207a	UTSW	10	77,514,395 (GRCm38)	missense	probably benign	0.00
R8995:Fam207a	UTSW	10	77,497,469 (GRCm38)	nonsense	probably null
R9299:Fam207a	UTSW	10	77,515,701 (GRCm38)	missense	possibly damaging	0.72
Z1088:Fam207a	UTSW	10	77,490,031 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGCGCCAGTCTTTCTACTTTGG -3'
(R):5'- GAAGGAACAGGCCTGATCTG -3'

Sequencing Primer
(F):5'- TTGAGACAGGGTCTTTCCACACAG -3'
(R):5'- TGGGAACAAGGACGTAGATACTCTTC -3'

Posted On

2019-05-13