Mutagenetix > Incidental Mutations

Incidental Mutation 'R5434:Flvcr1'

428188

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

042999-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5434 (G1)

Quality Score

120

Status

Validated

Chromosome

Chromosomal Location

191005847-191026158 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 191026009 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 29 (A29S)

Ref Sequence

ENSEMBL: ENSMUSP00000141578 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000085635
AA Change: A29S

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000082777
Gene: ENSMUSG00000066595
AA Change: A29S

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
AA Change: A29S

PolyPhen 2 Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000141578
Gene: ENSMUSG00000066595
AA Change: A29S

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

0.0712

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (57/57)

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: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	A	C	3: 36,875,516	D94A	probably damaging	Het
Angptl6	G	T	9: 20,875,525	Q301K	probably damaging	Het
Ankfn1	T	C	11: 89,453,187	Y323C	probably damaging	Het
Arid5b	T	A	10: 68,096,889	H818L	possibly damaging	Het
Armc4	T	C	18: 7,222,550	K573R	probably benign	Het
Atg13	G	T	2: 91,684,765		probably null	Het
Bop1	T	C	15: 76,455,411	M245V	probably benign	Het
Ccdc105	A	T	10: 78,748,650	L346*	probably null	Het
Ces2a	T	A	8: 104,737,409	F224L	probably damaging	Het
Cntnap5b	A	G	1: 100,072,201	H228R	probably benign	Het
Col9a2	A	T	4: 121,040,965	R25*	probably null	Het
Dcaf12	G	T	4: 41,302,744	T137N	probably benign	Het
Dennd4c	A	G	4: 86,811,456	N765S	probably benign	Het
Dnah12	A	G	14: 26,859,299	Y3162C	probably damaging	Het
Dpf1	G	T	7: 29,311,331	C123F	possibly damaging	Het
Frmd3	A	T	4: 74,187,796	I560F	probably damaging	Het
Galnt15	G	A	14: 32,049,843	V282I	possibly damaging	Het
Gm14412	A	T	2: 177,314,612	C497S	probably damaging	Het
Gm20830	A	T	Y: 6,916,464	Y218*	probably null	Het
Hmcn2	C	A	2: 31,420,363	T3323N	probably damaging	Het
Idh1	T	A	1: 65,175,336	Q6L	probably benign	Het
Kansl2-ps	A	G	7: 72,673,065		noncoding transcript	Het
Kcnj10	T	A	1: 172,369,480	V187E	probably damaging	Het
Khnyn	A	G	14: 55,887,500	T404A	probably damaging	Het
Lrp1b	T	A	2: 41,770,868	N76I	probably damaging	Het
Lrrc9	G	A	12: 72,454,088	C196Y	probably damaging	Het
Ltbr	G	A	6: 125,312,794	R146W	probably damaging	Het
Mgp	T	A	6: 136,872,774	N62I	probably benign	Het
Ms4a6c	T	A	19: 11,471,224	H40Q	probably benign	Het
Necab3	A	G	2: 154,547,459	S121P	probably damaging	Het
Nfkb1	T	A	3: 135,626,611	K128*	probably null	Het
Nr4a3	A	T	4: 48,067,861	R486W	probably damaging	Het
Nwd2	A	G	5: 63,807,648	K1525R	probably benign	Het
Pbrm1	G	T	14: 31,085,011	D1085Y	probably damaging	Het
R3hdm4	C	T	10: 79,912,458	E162K	possibly damaging	Het
Rbm15	A	G	3: 107,330,467	S872P	possibly damaging	Het
Retsat	A	G	6: 72,601,535	I77V	probably damaging	Het
Rpl32	A	G	6: 115,807,035	F77L	probably benign	Het
Ryr3	A	T	2: 112,794,469	V2202D	probably damaging	Het
Sars2	G	A	7: 28,750,291	R387Q	probably null	Het
Serpinb3d	G	T	1: 107,078,533	T275N	probably benign	Het
Sf3a1	C	A	11: 4,174,041	P296Q	probably damaging	Het
Sh3bgr	A	G	16: 96,224,544		probably benign	Het
St3gal3	A	G	4: 117,940,050	L332P	probably damaging	Het
Ston1	A	G	17: 88,645,311		probably benign	Het
Syne2	T	A	12: 75,971,875	S3383T	probably damaging	Het
Tnfsf14	A	G	17: 57,192,592	S87P	probably benign	Het
Trap1	T	C	16: 4,044,665	D583G	probably benign	Het
Ube2cbp	A	T	9: 86,427,407	I212N	possibly damaging	Het
Usp34	T	A	11: 23,412,271	D1572E	probably damaging	Het
Vmn1r179	A	T	7: 23,928,962	T193S	probably benign	Het
Vmn2r111	C	A	17: 22,548,489	V676L	probably damaging	Het
Wee1	TCCCC	TCCC	7: 110,124,569		probably null	Het
Wls	C	T	3: 159,934,340	R536C	probably damaging	Het
Zfhx3	A	G	8: 108,792,399	D51G	probably damaging	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
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
X0064:Flvcr1	UTSW	1	191025447	missense	probably benign	0.08

Predicted Primers

PCR Primer
(F):5'- TGAAGATGAGCAGCACCACG -3'
(R):5'- AGCTCTGCTTCACTTAGTCAG -3'

Sequencing Primer
(F):5'- GAGCAGCACCACGAAGCG -3'
(R):5'- TTCACTTAGTCAGCAAGCGG -3'

Posted On

2016-09-01