Mutagenetix > Incidental Mutation

Incidental Mutation 'R7182:Fam71a'

559021

Institutional Source

Beutler Lab

Gene Symbol

Fam71a

Ensembl Gene

ENSMUSG00000091017

Gene Name

family with sequence similarity 71, member A

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R7182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

191162584-191164817 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 191163351 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 365 (R365H)

Ref Sequence

ENSEMBL: ENSMUSP00000127945 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171798]

AlphaFold

B7XG49

Predicted Effect

probably damaging
Transcript: ENSMUST00000171798
AA Change: R365H

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000127945
Gene: ENSMUSG00000091017
AA Change: R365H

Domain	Start	End	E-Value	Type
Pfam:DUF3699	120	193	3.6e-31	PFAM
low complexity region	214	227	N/A	INTRINSIC
low complexity region	505	513	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

96% (70/73)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that interacts with the Rab2B small GTPase and may be important for integrity of the Golgi body. A knockdown of this gene induces fragmentation of the Golgi, similar to the effect seen with a knockdown of the Rab2B small GTPase. The encoded protein has an N-terminal Rab-binding domain specific for Rab2B. [provided by RefSeq, Feb 2017]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,849,714	V323A	unknown	Het
AC117241.1	A	G	17: 7,352,688	V158A	unknown	Het
Acadm	A	G	3: 153,941,881		probably null	Het
Adcy10	T	G	1: 165,543,470		probably null	Het
Aldh6a1	C	T	12: 84,441,831	A94T	probably benign	Het
Ano2	T	A	6: 125,790,293	L229Q	probably damaging	Het
Cacna1h	C	T	17: 25,377,655	R1828H	probably damaging	Het
Ccdc33	A	T	9: 58,034,173		probably null	Het
Cep112	A	C	11: 108,682,844	D6A	probably benign	Het
Chd9	T	C	8: 91,006,622	F1373S	unknown	Het
Cog5	T	C	12: 31,685,708	L158P	probably damaging	Het
Col6a3	G	A	1: 90,803,678	Q1618*	probably null	Het
Dlg5	A	G	14: 24,244,856	V3A		Het
Dnah7a	T	A	1: 53,620,461		probably null	Het
Dpp10	A	T	1: 123,341,151	H716Q	probably benign	Het
Epor	A	G	9: 21,963,329	F35L	probably benign	Het
Ergic1	A	T	17: 26,654,882	Y92F		Het
Fam98a	G	A	17: 75,539,018	Q273*	probably null	Het
Fhdc1	G	A	3: 84,448,850	T429I	probably damaging	Het
Fmnl2	T	A	2: 53,107,441	L468Q	unknown	Het
Fmnl3	C	T	15: 99,321,782	R695Q	probably damaging	Het
Gabrg2	T	C	11: 41,920,506	M271V	probably damaging	Het
Gk5	G	T	9: 96,119,526	V26L	possibly damaging	Het
Gm14412	A	C	2: 177,315,615	N162K	probably benign	Het
Gm3604	T	C	13: 62,371,875	D22G	probably damaging	Het
Gm5565	G	T	5: 146,158,055	H294N	probably benign	Het
Hsf2	T	A	10: 57,505,176	D287E	possibly damaging	Het
Impdh2	G	A	9: 108,563,208	R231H	possibly damaging	Het
Irak3	T	C	10: 120,166,511	H234R	probably damaging	Het
Lrba	GTTCCCTTC	GTTC	3: 86,741,458		probably null	Het
Lrch3	T	A	16: 32,993,779	D551E	probably benign	Het
Manba	A	T	3: 135,567,513	N736I	probably benign	Het
Map2	A	G	1: 66,412,653	D234G	possibly damaging	Het
Mdk	C	A	2: 91,930,852	K121N	unknown	Het
Mfn1	T	A	3: 32,564,220	L526Q	probably damaging	Het
Mfsd2b	A	G	12: 4,866,157		probably null	Het
Mnat1	G	T	12: 73,230,678	E233*	probably null	Het
Mtmr4	T	C	11: 87,604,605		probably null	Het
Mtrf1	A	G	14: 79,423,464	E432G	possibly damaging	Het
Muc5b	C	T	7: 141,842,645	R165C	unknown	Het
Naip6	T	A	13: 100,316,149	I135F	probably benign	Het
Nod2	A	G	8: 88,663,832	T256A	probably benign	Het
Notch4	T	A	17: 34,583,499	V1298E	probably damaging	Het
Nudc	G	T	4: 133,534,465	D169E	possibly damaging	Het
Obscn	A	T	11: 59,035,101	I5602N	probably damaging	Het
Olfr1468-ps1	G	A	19: 13,375,844	G294E	unknown	Het
Osbpl10	G	A	9: 115,067,251	D18N	probably damaging	Het
Pigk	G	A	3: 152,722,551	V72I	possibly damaging	Het
Prl8a6	C	T	13: 27,437,170	E26K	probably damaging	Het
Prpf8	A	G	11: 75,490,727	Y318C	possibly damaging	Het
Rab13	A	G	3: 90,224,763	D159G	possibly damaging	Het
Rgl2	T	C	17: 33,934,990	F457L	possibly damaging	Het
Ryr2	T	C	13: 11,759,757	H1171R	probably benign	Het
Scn4a	T	A	11: 106,330,308	I842F	probably benign	Het
Scnm1	A	T	3: 95,133,854	N14K	possibly damaging	Het
Serinc1	A	T	10: 57,524,361	I137N	probably benign	Het
Slc30a3	T	C	5: 31,086,825	Q371R	probably benign	Het
Slc30a3	A	C	5: 31,089,670	M103R	probably damaging	Het
Slco1a1	A	T	6: 141,911,839	C589S	probably damaging	Het
Slco1b2	A	G	6: 141,656,930	Y203C	probably damaging	Het
Spty2d1	A	T	7: 46,998,523	D219E	probably benign	Het
Svep1	A	T	4: 58,043,991	S3552T	probably benign	Het
Tmem62	A	G	2: 121,004,743	I516M	probably benign	Het
Trim61	A	T	8: 65,013,614	S332T	probably damaging	Het
Trmt10b	A	C	4: 45,308,520	T227P	probably benign	Het
Trpc3	T	C	3: 36,655,109	Q406R	probably benign	Het
Ttc30b	A	T	2: 75,937,949	Y153*	probably null	Het
Ush2a	A	T	1: 188,753,543	Y2950F	probably benign	Het
Usp32	C	T	11: 85,040,170	G478D	probably benign	Het
Wdfy3	A	G	5: 101,943,892	L527P	possibly damaging	Het
Wdr73	A	G	7: 80,893,678	V163A	possibly damaging	Het

Other mutations in Fam71a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01065:Fam71a	APN	1	191163027	missense	probably benign	0.00
IGL01541:Fam71a	APN	1	191164409	nonsense	probably null
IGL02364:Fam71a	APN	1	191163516	missense	probably benign	0.03
IGL02573:Fam71a	APN	1	191163870	missense	probably damaging	1.00
IGL02705:Fam71a	APN	1	191164302	missense	probably damaging	1.00
IGL03057:Fam71a	APN	1	191162944	missense	probably benign	0.01
IGL03283:Fam71a	APN	1	191162832	missense	probably benign	0.08
R0234:Fam71a	UTSW	1	191162908	missense	probably benign	0.00
R0234:Fam71a	UTSW	1	191162908	missense	probably benign	0.00
R0402:Fam71a	UTSW	1	191164440	missense	probably benign	0.03
R0635:Fam71a	UTSW	1	191163727	missense	probably benign
R0750:Fam71a	UTSW	1	191164485	start gained	probably benign
R1118:Fam71a	UTSW	1	191164485	start gained	probably benign
R1521:Fam71a	UTSW	1	191164022	missense	probably benign	0.00
R1573:Fam71a	UTSW	1	191164485	start gained	probably benign
R1654:Fam71a	UTSW	1	191163481	missense	probably benign	0.00
R1699:Fam71a	UTSW	1	191163821	missense	probably benign	0.01
R1900:Fam71a	UTSW	1	191164434	missense	possibly damaging	0.76
R2912:Fam71a	UTSW	1	191163228	missense	probably benign	0.00
R2939:Fam71a	UTSW	1	191163906	missense	possibly damaging	0.54
R3747:Fam71a	UTSW	1	191164010	missense	probably damaging	1.00
R4133:Fam71a	UTSW	1	191163008	missense	probably benign	0.05
R6038:Fam71a	UTSW	1	191162722	missense	probably damaging	0.98
R6038:Fam71a	UTSW	1	191162722	missense	probably damaging	0.98
R7179:Fam71a	UTSW	1	191164021	missense	probably damaging	1.00
R7261:Fam71a	UTSW	1	191164111	missense	unknown
R7326:Fam71a	UTSW	1	191164353	missense	probably benign	0.00
R7363:Fam71a	UTSW	1	191163713	missense	probably damaging	0.99
R7960:Fam71a	UTSW	1	191163448	missense	probably benign	0.02
R8120:Fam71a	UTSW	1	191162825	missense	probably damaging	0.99
R8916:Fam71a	UTSW	1	191163660	missense	probably benign	0.00
R9011:Fam71a	UTSW	1	191163061	missense	probably benign	0.08
R9090:Fam71a	UTSW	1	191162956	missense	probably damaging	1.00
R9165:Fam71a	UTSW	1	191163061	missense	probably benign	0.04
R9189:Fam71a	UTSW	1	191162703	missense	possibly damaging	0.65
R9271:Fam71a	UTSW	1	191162956	missense	probably damaging	1.00
Z1176:Fam71a	UTSW	1	191163745	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ATCGCCAACACCTCTGTGAC -3'
(R):5'- GCAGCAAACATGCCTGAAGG -3'

Sequencing Primer
(F):5'- AACACCTCTGTGACTGGTTG -3'
(R):5'- CCTGAAGGCTTGGGACAG -3'

Posted On

2019-06-26