Mutagenetix > Incidental Mutation

Incidental Mutation 'R4766:Flvcr1'

366115

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

042407-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4766 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

191005847-191026158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 191021106 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 290 (S290T)

Ref Sequence

ENSEMBL: ENSMUSP00000082777 (fasta)

Gene Model

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

AlphaFold

B2RXV4

Predicted Effect

probably benign
Transcript: ENSMUST00000085635
AA Change: S290T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: S290T

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 benign
Transcript: ENSMUST00000191946

SMART Domains

Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595

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 benign
Transcript: ENSMUST00000192666

SMART Domains

Protein: ENSMUSP00000141985
Gene: ENSMUSG00000066595

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

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.9%

Validation Efficiency

97% (87/90)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	C	T	5: 113,097,636	V1584I	probably benign	Het
A430105I19Rik	C	A	2: 118,759,577	R262L	probably damaging	Het
Adamts12	A	G	15: 11,285,901	D732G	probably benign	Het
Agpat4	A	G	17: 12,151,750		probably benign	Het
AI182371	T	C	2: 35,095,817	D140G	possibly damaging	Het
Apol11b	T	A	15: 77,634,933	T316S	probably benign	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bard1	T	C	1: 71,075,174	E216G	probably benign	Het
Bdp1	C	A	13: 100,049,868	R1692L	probably damaging	Het
Capn10	T	C	1: 92,943,419	I101T	probably damaging	Het
Ccdc175	C	T	12: 72,112,205	M653I	probably benign	Het
Ccr8	G	A	9: 120,094,464	C215Y	probably damaging	Het
Cct3	T	A	3: 88,311,785	L241*	probably null	Het
Cd2ap	A	T	17: 42,852,459	I25N	probably damaging	Het
Cdh19	T	C	1: 110,893,260	K583E	probably benign	Het
Cela3a	A	G	4: 137,402,675	S212P	unknown	Het
Cfap44	T	A	16: 44,415,883		probably null	Het
Clca3a1	A	T	3: 144,749,712	L440Q	probably damaging	Het
Crybg2	A	G	4: 134,089,352	Y1676C	probably damaging	Het
Dscam	T	C	16: 96,643,988	D1501G	probably benign	Het
Eml6	C	A	11: 29,805,757	L832F	probably benign	Het
Enpp3	A	G	10: 24,773,927	L867P	probably damaging	Het
Erbb3	A	G	10: 128,586,238	Y46H	possibly damaging	Het
Fads3	T	C	19: 10,056,020	I342T	possibly damaging	Het
Fut9	A	G	4: 25,799,191		probably benign	Het
Gad2	C	T	2: 22,622,667	A2V	probably damaging	Het
Gkn3	C	T	6: 87,383,525	A163T	probably damaging	Het
Gm10715	T	G	9: 3,038,073		probably benign	Het
Herc1	T	G	9: 66,441,929	D2023E	probably benign	Het
Hsd3b3	A	G	3: 98,742,485	L174P	probably damaging	Het
Impg2	TACCACCACCACCACCACCACCACCA	TACCACCACCACCACCACCACCA	16: 56,257,939		probably benign	Het
Iqcf3	A	G	9: 106,560,949		probably null	Het
Kcna4	G	A	2: 107,296,543	V541M	probably damaging	Het
Kcnj11	T	C	7: 46,099,816	T28A	probably benign	Het
Kcnmb2	T	A	3: 32,181,867	N88K	probably damaging	Het
Kdm2a	TTCCTCCTCCTCCTCCTCTTCCTCCTCCTC	TTCCTCCTCCTCCTCTTCCTCCTCCTC	19: 4,324,507		probably benign	Het
Krt2	T	C	15: 101,813,960	E430G	probably damaging	Het
Lins1	C	T	7: 66,710,641	L384F	possibly damaging	Het
Man1c1	G	C	4: 134,703,438	P11R	probably damaging	Het
Mfge8	T	C	7: 79,134,525	N389D	probably damaging	Het
Mug1	C	T	6: 121,884,254	T1278I	probably benign	Het
Myh9	T	C	15: 77,807,877	M161V	probably damaging	Het
Myl7	T	A	11: 5,898,171	Y61F	probably benign	Het
Nlrp4d	A	T	7: 10,362,779		unknown	Het
Nol3	A	G	8: 105,281,933		probably null	Het
Nup85	T	A	11: 115,577,925		probably null	Het
Obscn	T	A	11: 59,012,742	T7619S	probably damaging	Het
Olfr1298	T	C	2: 111,645,881	M39V	probably benign	Het
Olfr331	T	A	11: 58,501,668	N296I	probably damaging	Het
Olfr628	C	T	7: 103,732,250	T108I	possibly damaging	Het
Olfr844	G	A	9: 19,318,845	V104I	probably benign	Het
Pax5	T	A	4: 44,679,494	I184F	probably damaging	Het
Pcdha7	T	A	18: 36,974,507	V195D	probably damaging	Het
Phf3	A	T	1: 30,813,939		probably benign	Het
Pla2g15	G	T	8: 106,163,071	G325V	probably damaging	Het
Ppp1r21	T	C	17: 88,572,615	F487L	probably benign	Het
Ppp1r9a	A	G	6: 5,157,016	I965V	probably benign	Het
Ptpru	A	G	4: 131,820,964	V74A	probably damaging	Het
Rif1	T	A	2: 52,098,934	Y780N	probably damaging	Het
Rps25	T	A	9: 44,408,749	Y23N	possibly damaging	Het
Ryr1	T	C	7: 29,085,833	D1811G	probably damaging	Het
Scamp5	T	G	9: 57,452,036		probably null	Het
Senp1	T	C	15: 98,045,896	D602G	probably damaging	Het
Sh2b2	T	G	5: 136,231,957	D135A	probably damaging	Het
Slc26a8	G	A	17: 28,638,661	T836M	probably benign	Het
Slfn4	T	G	11: 83,186,821	I145S	possibly damaging	Het
Spag6l	G	A	16: 16,777,390	T377I	probably benign	Het
Spdye4b	T	C	5: 143,196,334	F129S	probably damaging	Het
Sspo	G	A	6: 48,470,580	G2360E	probably benign	Het
Taar2	A	T	10: 23,940,771	I70F	probably damaging	Het
Taar7e	A	G	10: 24,038,566	N318S	probably damaging	Het
Tor1a	C	A	2: 30,967,730	R42L	probably benign	Het
Trdn	A	T	10: 33,474,506	Q690H	probably benign	Het
Trim56	C	A	5: 137,112,725	V646L	probably benign	Het
Tspan15	T	A	10: 62,191,544	K165I	probably benign	Het
Usp24	A	G	4: 106,416,048	Y2210C	probably damaging	Het
Usp45	A	G	4: 21,797,307	T76A	probably damaging	Het
Vps13c	T	A	9: 67,878,224		probably null	Het
Zfp512b	T	C	2: 181,585,095		probably benign	Het
Zyx	C	A	6: 42,356,159		probably null	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
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
R6698:Flvcr1	UTSW	1	191025732	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
R9487:Flvcr1	UTSW	1	191011632	missense	possibly damaging	0.79
X0064:Flvcr1	UTSW	1	191025447	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- CTAGAGCCGTTCCACTCAGTAC -3'
(R):5'- GTTAAATGCCGACGCTTACTC -3'

Sequencing Primer
(F):5'- TCAGTACCCAGGCAAGACATTG -3'
(R):5'- GCTTCCTATTGACAGCTATTAACAAG -3'

Posted On

2015-12-21