Mutagenetix > Incidental Mutation

Incidental Mutation 'R4613:Tfrc'

351004

Institutional Source

Beutler Lab

Gene Symbol

Tfrc

Ensembl Gene

ENSMUSG00000022797

Gene Name

transferrin receptor

Synonyms

Mtvr-1, E430033M20Rik, Mtvr1, Trfr, 2610028K12Rik, p90, TfR1, CD71

MMRRC Submission

041824-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4613 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

32608920-32632794 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 32618657 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 278 (A278S)

Ref Sequence

ENSEMBL: ENSMUSP00000113028 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023486] [ENSMUST00000120680]

AlphaFold

Q62351

Predicted Effect

probably damaging
Transcript: ENSMUST00000023486
AA Change: A278S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: A278S

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
Pfam:PA	229	348	1.1e-12	PFAM
Pfam:Peptidase_M28	390	597	1e-13	PFAM
Pfam:TFR_dimer	640	753	3.4e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000120680
AA Change: A278S

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

SMART Domains

Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: A278S

Domain	Start	End	E-Value	Type
transmembrane domain	66	88	N/A	INTRINSIC
Pfam:PA	225	349	9.2e-11	PFAM
Pfam:Peptidase_M28	403	502	3.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137901

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231912

Coding Region Coverage

1x: 99.4%
3x: 98.7%
10x: 97.4%
20x: 95.5%

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a cell surface receptor necessary for cellular iron uptake by the process of receptor-mediated endocytosis. This receptor is required for erythropoiesis and neurologic development. Mice that are deficient in this receptor show impaired erythroid development and abnormal iron homeostasis. [provided by RefSeq, Sep 2015]
PHENOTYPE: Homozygous mutant embryos do not survive past E12.5, exhibiting anemia, hydrops fetalis, and neurological defects. Haploinsufficiency results in abnromal erythrocytes and tissue iron deficiency. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9830107B12Rik	A	T	17: 48,128,557	L130I	probably benign	Het
Abca9	A	G	11: 110,144,784	V670A	probably benign	Het
Adad1	A	G	3: 37,092,033	N517D	probably damaging	Het
Ankle2	T	C	5: 110,231,379	L48P	probably benign	Het
Aoc3	A	T	11: 101,337,659		probably benign	Het
Areg	A	G	5: 91,143,504	K102R	probably benign	Het
Bmp1	T	C	14: 70,508,523	T167A	probably damaging	Het
C4b	C	T	17: 34,734,551	G986D	probably benign	Het
Caml	G	T	13: 55,625,142	G200C	probably damaging	Het
Ccdc40	A	C	11: 119,231,532	R53S	probably benign	Het
Cdh22	T	A	2: 165,143,656	I337L	probably benign	Het
Col12a1	A	T	9: 79,647,601	V2065D	probably benign	Het
Copg2	A	G	6: 30,811,596	S591P	probably benign	Het
Cyp2d34	G	A	15: 82,616,325	P438S	probably damaging	Het
Dchs1	T	C	7: 105,772,724	D163G	probably damaging	Het
Depdc1b	T	C	13: 108,363,643	V230A	probably damaging	Het
Depdc5	T	A	5: 32,975,446	L1300H	probably damaging	Het
Dnah10	G	T	5: 124,762,869		probably null	Het
Dsc2	A	T	18: 20,041,819	D466E	probably damaging	Het
Dthd1	A	G	5: 62,827,068	D372G	probably damaging	Het
Eogt	G	T	6: 97,134,304	Q199K	probably benign	Het
Epha6	C	A	16: 59,666,597	R1029L	possibly damaging	Het
Eppin	C	A	2: 164,589,323	E128*	probably null	Het
Fam102b	A	T	3: 109,027,255	F23I	probably benign	Het
Fam160b1	C	A	19: 57,371,187	P53Q	probably damaging	Het
Fgf20	T	C	8: 40,286,611	R33G	probably benign	Het
Fgg	A	G	3: 83,010,090	N142S	probably damaging	Het
Gba	C	T	3: 89,208,644		probably null	Het
Gli2	A	G	1: 118,837,511	V970A	probably damaging	Het
Gramd1b	A	T	9: 40,307,993	V508D	probably damaging	Het
Gucy2c	T	A	6: 136,708,321	D898V	probably damaging	Het
Kcnj15	T	C	16: 95,295,794	Y92H	probably damaging	Het
L3mbtl3	A	T	10: 26,282,795	S652T	unknown	Het
Ldb2	G	T	5: 44,476,551	Q326K	probably benign	Het
Lipi	C	A	16: 75,560,801	R292L	probably benign	Het
Lrrc36	G	A	8: 105,449,614	V207I	possibly damaging	Het
Lyplal1	C	T	1: 186,088,752	G166D	probably benign	Het
Map1b	A	T	13: 99,430,302	Y1970*	probably null	Het
Map2	A	G	1: 66,425,469	N287D	probably damaging	Het
Map3k11	A	T	19: 5,697,470	Q578L	probably benign	Het
Map3k11	G	T	19: 5,697,471	Q578H	probably damaging	Het
Map4k4	G	A	1: 40,017,191	S1012N	probably benign	Het
Mapk13	A	T	17: 28,769,452	N15Y	probably damaging	Het
Mapk15	G	A	15: 75,995,910	A125T	probably damaging	Het
Mrgprb1	C	A	7: 48,447,708	R152L	possibly damaging	Het
Muc5ac	T	G	7: 141,791,103	Y104D	possibly damaging	Het
Myo1h	A	G	5: 114,348,379	N566S	possibly damaging	Het
Myo1h	C	A	5: 114,351,676	H647Q	probably benign	Het
Neo1	A	G	9: 58,889,041	I1201T	possibly damaging	Het
Nlgn1	T	C	3: 25,436,022	T514A	probably benign	Het
Olfr120	A	G	17: 37,726,696	Y224C	probably damaging	Het
Olfr533	A	T	7: 140,467,068	Y289F	probably damaging	Het
Olfr8	A	G	10: 78,956,065	N287D	probably damaging	Het
Olfr985	T	A	9: 40,127,722	K80*	probably null	Het
Orc2	A	T	1: 58,500,309	L57*	probably null	Het
Otoa	G	A	7: 121,145,568	V850M	probably damaging	Het
Pcnx3	T	C	19: 5,667,219	T1579A	possibly damaging	Het
Pde5a	A	T	3: 122,823,093	Y564F	probably damaging	Het
Pdxk	A	C	10: 78,447,919	I147S	probably damaging	Het
Pfdn5	A	G	15: 102,328,752	D108G	probably benign	Het
Pink1	T	C	4: 138,317,310	D342G	probably damaging	Het
Prkacb	A	T	3: 146,737,998	V336E	probably damaging	Het
Ptpro	C	A	6: 137,416,836	S13*	probably null	Het
Rfng	A	G	11: 120,782,650	L215P	probably damaging	Het
Rpn2	T	C	2: 157,302,425	F336L	possibly damaging	Het
Sacs	A	G	14: 61,211,797		probably null	Het
Sirpb1a	T	A	3: 15,417,037	Y77F	probably benign	Het
Skiv2l2	C	A	13: 112,921,739	E53*	probably null	Het
Slc30a8	A	G	15: 52,333,575	D294G	probably benign	Het
Sox13	T	C	1: 133,388,934	I212V	probably benign	Het
Srebf2	T	A	15: 82,185,348	I657N	possibly damaging	Het
Srsf6	C	A	2: 162,933,709	T146K	probably benign	Het
Strn4	T	C	7: 16,824,163	V162A	possibly damaging	Het
Sulf2	T	C	2: 166,132,605	D53G	probably damaging	Het
Tbc1d8	T	A	1: 39,372,708	I1016F	probably damaging	Het
Tnrc6a	T	G	7: 123,184,289		probably null	Het
Vmn1r83	T	C	7: 12,321,768	I121V	probably benign	Het
Vps13d	T	C	4: 145,131,655	S2200G	possibly damaging	Het
Washc2	T	A	6: 116,229,269	D397E	probably damaging	Het
Wipf3	T	C	6: 54,485,555	L250P	probably damaging	Het
Xirp1	A	G	9: 120,019,682	F45S	probably damaging	Het
Xpo5	A	G	17: 46,236,963	T910A	probably benign	Het
Zfp235	T	C	7: 24,141,676	Y507H	probably damaging	Het

Other mutations in Tfrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Tfrc	APN	16	32624828	critical splice donor site	probably null
IGL01553:Tfrc	APN	16	32628585	missense	probably benign	0.07
IGL01667:Tfrc	APN	16	32624443	unclassified	probably benign
IGL01761:Tfrc	APN	16	32628551	missense	probably damaging	1.00
IGL02085:Tfrc	APN	16	32621186	missense	probably benign	0.14
IGL02093:Tfrc	APN	16	32630194	missense	probably benign	0.06
IGL02401:Tfrc	APN	16	32617181	missense	probably damaging	1.00
IGL02548:Tfrc	APN	16	32624822	nonsense	probably null
IGL02715:Tfrc	APN	16	32624371	missense	probably benign
IGL03157:Tfrc	APN	16	32620405	missense	probably benign	0.00
IGL03242:Tfrc	APN	16	32630112	missense	probably damaging	1.00
IGL03410:Tfrc	APN	16	32624831	splice site	probably null
R0034:Tfrc	UTSW	16	32615396	critical splice donor site	probably null
R0098:Tfrc	UTSW	16	32623426	missense	probably damaging	0.98
R0098:Tfrc	UTSW	16	32623426	missense	probably damaging	0.98
R0508:Tfrc	UTSW	16	32630179	missense	probably damaging	1.00
R1474:Tfrc	UTSW	16	32626649	missense	probably damaging	0.99
R1613:Tfrc	UTSW	16	32623375	missense	probably damaging	1.00
R1694:Tfrc	UTSW	16	32614625	missense	probably damaging	0.99
R2430:Tfrc	UTSW	16	32626711	missense	probably damaging	1.00
R3807:Tfrc	UTSW	16	32616826	missense	possibly damaging	0.47
R4661:Tfrc	UTSW	16	32630151	missense	probably damaging	0.99
R4974:Tfrc	UTSW	16	32618279	missense	probably damaging	0.99
R5138:Tfrc	UTSW	16	32615209	nonsense	probably null
R5668:Tfrc	UTSW	16	32623376	missense	probably damaging	1.00
R5867:Tfrc	UTSW	16	32620412	missense	possibly damaging	0.71
R5942:Tfrc	UTSW	16	32626715	missense	possibly damaging	0.65
R6185:Tfrc	UTSW	16	32618272	missense	probably benign	0.19
R6417:Tfrc	UTSW	16	32630239	missense	probably damaging	0.99
R7453:Tfrc	UTSW	16	32619049	missense	probably damaging	1.00
R7559:Tfrc	UTSW	16	32621417	splice site	probably null
R7791:Tfrc	UTSW	16	32619167	missense	probably benign	0.00
R7792:Tfrc	UTSW	16	32619167	missense	probably benign	0.00
R7793:Tfrc	UTSW	16	32619167	missense	probably benign	0.00
R7830:Tfrc	UTSW	16	32619167	missense	probably benign	0.00
R7832:Tfrc	UTSW	16	32619167	missense	probably benign	0.00
R7943:Tfrc	UTSW	16	32630221	missense	probably benign
R7974:Tfrc	UTSW	16	32621283	missense	probably null	0.89
R7980:Tfrc	UTSW	16	32617149	missense	probably benign	0.04
R8055:Tfrc	UTSW	16	32618656	missense	probably benign	0.24
R8215:Tfrc	UTSW	16	32625030	missense	probably damaging	1.00
R9095:Tfrc	UTSW	16	32614753	missense	possibly damaging	0.77
R9379:Tfrc	UTSW	16	32625001	missense	probably damaging	1.00
R9677:Tfrc	UTSW	16	32615361	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AGACGTACCTGAATGCTTTCCC -3'
(R):5'- AAGCATTCTCAGCAACTGCC -3'

Sequencing Primer
(F):5'- AGCTTAGTCAGTATGTTGTATGTTTC -3'
(R):5'- AACTGCCTTCTTACTTCCTGCTAAG -3'

Posted On

2015-10-08