Mutagenetix > Incidental Mutations

Incidental Mutation 'R6698:Flvcr1'

528635

Institutional Source

Beutler Lab

Gene Symbol

Flvcr1

Ensembl Gene

ENSMUSG00000066595

Gene Name

feline leukemia virus subgroup C cellular receptor 1

Synonyms

Mfsd7b, 9630055N22Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6698 (G1)

Quality Score

145.008

Status

Validated

Chromosome

Chromosomal Location

191005847-191026158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 191025732 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 79 (Y79C)

Ref Sequence

ENSEMBL: ENSMUSP00000141985 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085635] [ENSMUST00000191946] [ENSMUST00000192666]

AlphaFold

B2RXV4

Predicted Effect

probably damaging
Transcript: ENSMUST00000085635
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: Y121C

Domain	Start	End	E-Value	Type
low complexity region	40	68	N/A	INTRINSIC
Pfam:MFS_1	100	483	1.5e-28	PFAM
transmembrane domain	498	517	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181050

SMART Domains

Protein: ENSMUSP00000138069
Gene: ENSMUSG00000097845

Domain	Start	End	E-Value	Type
low complexity region	97	106	N/A	INTRINSIC
low complexity region	170	188	N/A	INTRINSIC
low complexity region	246	265	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000191946
AA Change: Y121C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595
AA Change: Y121C

Domain	Start	End	E-Value	Type
low complexity region	40	68	N/A	INTRINSIC
Pfam:MFS_1	96	243	2.1e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192407

Predicted Effect

probably damaging
Transcript: ENSMUST00000192666
AA Change: Y79C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595
AA Change: Y79C

Domain	Start	End	E-Value	Type
low complexity region	5	26	N/A	INTRINSIC
Pfam:MFS_1	54	198	3.1e-9	PFAM

Meta Mutation Damage Score

0.5217

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.0%
20x: 94.0%

Validation Efficiency

95% (40/42)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the major facilitator superfamily of transporter proteins. The encoded protein is a heme transporter that may play a critical role in erythropoiesis by protecting developing erythroid cells from heme toxicity. This gene may play a role in posterior column ataxia with retinitis pigmentosa and the hematological disorder Diamond-Blackfan syndrome. [provided by RefSeq, Jan 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit runting, cardiomegaly and splenomegaly, lack definitive erythropoiesis, develop severe hyperchromic macrocytic anemia and reticulocytopenia, and show craniofacial and limb defects and intrauterine lethality modulated by genetic background. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Brca2	T	C	5: 150,532,394	V200A	probably damaging	Het
Camk2g	T	A	14: 20,742,708	K393*	probably null	Het
Catsperb	T	A	12: 101,509,207	F337I	probably damaging	Het
Cdk17	T	C	10: 93,228,678	Y270H	probably damaging	Het
Col5a3	C	T	9: 20,779,033	G1162R	probably damaging	Het
Col6a5	T	A	9: 105,934,175	N715I	unknown	Het
Fam198b	A	G	3: 79,936,595	I10V	probably damaging	Het
Fancg	A	G	4: 43,007,034	S248P	probably benign	Het
Gabrp	A	G	11: 33,557,017	S198P	probably damaging	Het
Glp1r	A	G	17: 30,936,401	Y454C	probably damaging	Het
Gpr158	A	C	2: 21,827,110	D1007A	probably damaging	Het
Gsdmc3	A	G	15: 63,860,271	F302S	possibly damaging	Het
Gsdmc4	T	A	15: 63,893,764	D312V	probably benign	Het
Itga5	T	C	15: 103,351,381	Y663C	probably benign	Het
Kif1b	A	T	4: 149,274,956	M108K	probably damaging	Het
Klf11	T	G	12: 24,653,619	S18A	probably damaging	Het
Lmtk2	T	C	5: 144,174,919	V819A	probably benign	Het
Lrba	A	G	3: 86,304,425	M451V	probably damaging	Het
Lrp1b	T	C	2: 41,302,946	D488G	probably damaging	Het
Mark4	T	C	7: 19,429,437	N589S	probably benign	Het
Mis12	T	C	11: 71,025,186	F15S	probably damaging	Het
Nif3l1	A	G	1: 58,450,489	D179G	probably benign	Het
Nlrx1	A	G	9: 44,265,807	W3R	probably damaging	Het
Nup210l	G	A	3: 90,182,508	S1194N	possibly damaging	Het
Olfr1165-ps	A	G	2: 88,101,217	F257L	unknown	Het
Olfr451-ps1	A	T	6: 42,801,202	T154S	probably benign	Het
Park2	A	G	17: 11,067,296		probably null	Het
Pnkd	T	A	1: 74,350,677	L320Q	probably damaging	Het
Rcc2	G	A	4: 140,702,275	C40Y	probably benign	Homo
Rilpl2	C	T	5: 124,469,780	E126K	probably damaging	Het
Rpn2	T	C	2: 157,297,410	I208T	possibly damaging	Het
Skint4	G	T	4: 112,119,899	C170F	probably damaging	Het
Synj1	C	G	16: 90,960,452	V877L	probably damaging	Het
Tcp11	A	T	17: 28,071,830	I106N	possibly damaging	Het
Tg	A	G	15: 66,839,362	Y991C	probably damaging	Het
Trib3	A	G	2: 152,338,419	S285P	probably damaging	Het
Wdr49	A	T	3: 75,429,366	W345R	probably benign	Het
Wnt5a	A	G	14: 28,518,463	Y190C	possibly damaging	Het
Xpo1	A	G	11: 23,294,040	E955G	probably benign	Het

Other mutations in Flvcr1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00093:Flvcr1	APN	1	191015489	nonsense	probably null
IGL01089:Flvcr1	APN	1	191013390	missense	probably damaging	0.98
IGL02572:Flvcr1	APN	1	191025646	missense	probably damaging	1.00
IGL03248:Flvcr1	APN	1	191025742	missense	probably damaging	1.00
R0009:Flvcr1	UTSW	1	191008191	missense	probably benign
R0122:Flvcr1	UTSW	1	191021226	missense	possibly damaging	0.79
R0363:Flvcr1	UTSW	1	191012254	splice site	probably benign
R0417:Flvcr1	UTSW	1	191011219	missense	probably benign	0.05
R0718:Flvcr1	UTSW	1	191025582	missense	probably damaging	1.00
R1061:Flvcr1	UTSW	1	191008173	missense	probably benign	0.01
R1815:Flvcr1	UTSW	1	191025380	missense	probably damaging	1.00
R2029:Flvcr1	UTSW	1	191021156	missense	probably benign	0.01
R4590:Flvcr1	UTSW	1	191012146	missense	probably benign	0.05
R4766:Flvcr1	UTSW	1	191021106	missense	probably benign	0.00
R4889:Flvcr1	UTSW	1	191025567	missense	probably damaging	1.00
R4976:Flvcr1	UTSW	1	191025495	missense	probably damaging	1.00
R5434:Flvcr1	UTSW	1	191026009	missense	probably benign	0.07
R5508:Flvcr1	UTSW	1	191025459	missense	probably damaging	1.00
R5930:Flvcr1	UTSW	1	191009551	missense	probably damaging	1.00
R6927:Flvcr1	UTSW	1	191025664	missense	possibly damaging	0.66
R7544:Flvcr1	UTSW	1	191025946	missense	probably damaging	0.99
R7654:Flvcr1	UTSW	1	191011605	missense	possibly damaging	0.83
R7853:Flvcr1	UTSW	1	191025646	missense	probably damaging	1.00
R8387:Flvcr1	UTSW	1	191011534	critical splice donor site	probably null
R8995:Flvcr1	UTSW	1	191011620	missense	probably damaging	1.00
R9092:Flvcr1	UTSW	1	191008167	missense
R9202:Flvcr1	UTSW	1	191012154	missense	probably benign	0.04
R9448:Flvcr1	UTSW	1	191012209	missense	possibly damaging	0.65
X0064:Flvcr1	UTSW	1	191025447	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TTTACCTGATTGCCCAGCACTG -3'
(R):5'- ATACCTTCCAGTGCCCAAGG -3'

Sequencing Primer
(F):5'- AGCACTGCTGTGGCACAAG -3'
(R):5'- GCTTGGTACCGCAAAACG -3'

Posted On

2018-07-24