Mutagenetix > Incidental Mutation

Incidental Mutation 'R5668:Tfrc'

442477

Institutional Source

Beutler Lab

Gene Symbol

Tfrc

Ensembl Gene

ENSMUSG00000022797

Gene Name

transferrin receptor

Synonyms

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

MMRRC Submission

043311-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5668 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

32427738-32451612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32442194 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 473 (Y473C)

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: Y473C

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

SMART Domains

Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: Y473C

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: Y473C

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

SMART Domains

Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: Y473C

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: ENSMUST00000128285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155929

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000231912

Meta Mutation Damage Score

0.9456

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

99% (84/85)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	G	7: 28,603,975 (GRCm39)	W429R	probably damaging	Het
Afg1l	C	T	10: 42,236,236 (GRCm39)	C272Y	probably damaging	Het
Agrn	T	C	4: 156,251,770 (GRCm39)	T1831A	probably damaging	Het
Aifm2	T	C	10: 61,561,696 (GRCm39)	V14A	probably damaging	Het
Angptl3	A	T	4: 98,920,321 (GRCm39)		probably null	Het
Arfgap1	A	T	2: 180,615,912 (GRCm39)	D197V	possibly damaging	Het
Atp1a3	T	C	7: 24,678,294 (GRCm39)		probably benign	Het
Brwd1	T	C	16: 95,817,350 (GRCm39)	I1387M	probably damaging	Het
Cavin4	A	G	4: 48,672,499 (GRCm39)	T315A	probably benign	Het
Cep128	T	C	12: 90,966,410 (GRCm39)	T1066A	probably benign	Het
Cln3	T	C	7: 126,171,558 (GRCm39)	T376A	probably benign	Het
Cntn4	A	T	6: 106,656,397 (GRCm39)		silent	Het
Colec12	T	A	18: 9,848,963 (GRCm39)	D380E	probably damaging	Het
Csmd3	T	C	15: 47,559,151 (GRCm39)	I2371V	possibly damaging	Het
Cspg4b	A	G	13: 113,453,701 (GRCm39)	S55G	possibly damaging	Het
Cxcl3	T	C	5: 90,935,299 (GRCm39)	S99P	unknown	Het
Ddx60	A	G	8: 62,453,612 (GRCm39)	R1244G	probably benign	Het
Dhx38	T	C	8: 110,280,048 (GRCm39)	D914G	probably damaging	Het
Dlc1	T	G	8: 37,404,655 (GRCm39)		probably benign	Het
Eif4a3l1	A	T	6: 136,306,393 (GRCm39)	I264F	probably benign	Het
Fam161b	A	G	12: 84,403,124 (GRCm39)	S169P	probably damaging	Het
Fastkd1	A	G	2: 69,537,725 (GRCm39)	S286P	possibly damaging	Het
Fmn2	A	T	1: 174,409,603 (GRCm39)	E612V	unknown	Het
Foxb1	T	A	9: 69,667,528 (GRCm39)	M1L	probably damaging	Het
Gm14412	A	T	2: 177,007,402 (GRCm39)	C164*	probably null	Het
Gm43302	T	A	5: 105,423,678 (GRCm39)	M432L	probably benign	Het
Gm4353	C	A	7: 115,682,913 (GRCm39)	A223S	probably damaging	Het
Gpatch8	T	C	11: 102,391,693 (GRCm39)	K143R	unknown	Het
Gpr15	A	G	16: 58,538,013 (GRCm39)	S359P	probably damaging	Het
Gucy2e	A	G	11: 69,119,207 (GRCm39)	L649P	probably damaging	Het
H2-M10.5	C	A	17: 37,085,473 (GRCm39)	H211N	probably damaging	Het
Hs6st1	T	C	1: 36,142,970 (GRCm39)	Y302H	probably damaging	Het
Khdrbs2	A	T	1: 32,506,851 (GRCm39)	D165V	probably damaging	Het
Klra13-ps	T	G	6: 130,281,246 (GRCm39)		noncoding transcript	Het
Lrrc37	T	A	11: 103,507,880 (GRCm39)		probably benign	Het
Lrrc37a	T	A	11: 103,391,001 (GRCm39)	T1475S	probably benign	Het
Ly75	A	G	2: 60,184,844 (GRCm39)	S437P	probably damaging	Het
Maz	C	T	7: 126,624,494 (GRCm39)	C342Y	probably damaging	Het
Mcf2l	C	A	8: 13,063,812 (GRCm39)	S1008*	probably null	Het
Mcmbp	T	C	7: 128,314,478 (GRCm39)	D246G	probably benign	Het
Mipol1	G	A	12: 57,372,346 (GRCm39)	R135H	possibly damaging	Het
Mycbp2	T	A	14: 103,357,955 (GRCm39)	Y4613F	possibly damaging	Het
Nup188	G	A	2: 30,226,336 (GRCm39)	A1118T	probably damaging	Het
Or10g6	A	T	9: 39,933,964 (GRCm39)	I92F	probably damaging	Het
Or2k2	T	A	4: 58,785,489 (GRCm39)	I78F	probably benign	Het
Or4a76	G	A	2: 89,460,688 (GRCm39)	L185F	probably damaging	Het
Or4c121	A	T	2: 89,024,170 (GRCm39)	D69E	possibly damaging	Het
Or4z4	A	G	19: 12,076,290 (GRCm39)	S238P	probably damaging	Het
Or51f1e	A	T	7: 102,747,103 (GRCm39)	S52C	probably benign	Het
Or51h7	T	C	7: 102,591,128 (GRCm39)	K219E	probably benign	Het
P3h1	T	A	4: 119,101,243 (GRCm39)	I460N	possibly damaging	Het
Pcnt	T	C	10: 76,245,334 (GRCm39)	D1101G	probably benign	Het
Phlpp2	C	A	8: 110,655,205 (GRCm39)	Q667K	possibly damaging	Het
Plec	A	G	15: 76,074,666 (GRCm39)	F434L	possibly damaging	Het
Ppp6r2	T	A	15: 89,164,602 (GRCm39)	I602N	probably damaging	Het
Rdh8	A	C	9: 20,736,475 (GRCm39)	I181L	probably benign	Het
Rnf181	A	G	6: 72,338,505 (GRCm39)	M1T	probably null	Het
Rpl29-ps2	A	G	13: 4,664,221 (GRCm39)		noncoding transcript	Het
Sart3	A	G	5: 113,883,217 (GRCm39)		probably null	Het
Sec14l2	A	C	11: 4,059,189 (GRCm39)	L160R	probably damaging	Het
Senp1	C	T	15: 97,946,236 (GRCm39)	R503H	probably damaging	Het
Shoc1	A	G	4: 59,047,399 (GRCm39)	S1407P	probably benign	Het
Slc22a2	T	C	17: 12,827,296 (GRCm39)	V316A	probably benign	Het
Slc34a1	A	T	13: 55,556,898 (GRCm39)	I365F	possibly damaging	Het
Spag5	T	C	11: 78,195,542 (GRCm39)	V283A	possibly damaging	Het
Srebf2	C	T	15: 82,076,456 (GRCm39)	T702I	probably benign	Het
Sun3	A	G	11: 8,981,433 (GRCm39)		probably null	Het
Syt6	A	G	3: 103,528,217 (GRCm39)	Y312C	probably damaging	Het
Tas2r121	T	A	6: 132,677,756 (GRCm39)	Y72F	possibly damaging	Het
Trp63	C	T	16: 25,684,935 (GRCm39)	A274V	possibly damaging	Het
Trpm5	T	C	7: 142,626,966 (GRCm39)	D1085G	probably benign	Het
Ttn	A	G	2: 76,745,008 (GRCm39)	V5347A	probably benign	Het
Uqcc4	G	A	17: 25,403,963 (GRCm39)	S101N	probably damaging	Het
Vma21-ps	T	A	4: 52,496,946 (GRCm39)	Q100L	possibly damaging	Het
Vmn2r22	T	C	6: 123,614,873 (GRCm39)	N239S	probably benign	Het
Wfdc8	T	C	2: 164,439,339 (GRCm39)		probably benign	Het
Xkr4	T	A	1: 3,741,258 (GRCm39)	Y105F	probably damaging	Het
Xpo7	C	T	14: 70,920,286 (GRCm39)	V627I	possibly damaging	Het
Zfp606	T	C	7: 12,226,479 (GRCm39)	V200A	probably benign	Het
Zfp936	A	T	7: 42,839,858 (GRCm39)	S441C	possibly damaging	Het

Other mutations in Tfrc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01081:Tfrc	APN	16	32,443,646 (GRCm39)	critical splice donor site	probably null
IGL01553:Tfrc	APN	16	32,447,403 (GRCm39)	missense	probably benign	0.07
IGL01667:Tfrc	APN	16	32,443,261 (GRCm39)	unclassified	probably benign
IGL01761:Tfrc	APN	16	32,447,369 (GRCm39)	missense	probably damaging	1.00
IGL02085:Tfrc	APN	16	32,440,004 (GRCm39)	missense	probably benign	0.14
IGL02093:Tfrc	APN	16	32,449,012 (GRCm39)	missense	probably benign	0.06
IGL02401:Tfrc	APN	16	32,435,999 (GRCm39)	missense	probably damaging	1.00
IGL02548:Tfrc	APN	16	32,443,640 (GRCm39)	nonsense	probably null
IGL02715:Tfrc	APN	16	32,443,189 (GRCm39)	missense	probably benign
IGL03157:Tfrc	APN	16	32,439,223 (GRCm39)	missense	probably benign	0.00
IGL03242:Tfrc	APN	16	32,448,930 (GRCm39)	missense	probably damaging	1.00
IGL03410:Tfrc	APN	16	32,443,649 (GRCm39)	splice site	probably null
R0034:Tfrc	UTSW	16	32,434,214 (GRCm39)	critical splice donor site	probably null
R0098:Tfrc	UTSW	16	32,442,244 (GRCm39)	missense	probably damaging	0.98
R0098:Tfrc	UTSW	16	32,442,244 (GRCm39)	missense	probably damaging	0.98
R0508:Tfrc	UTSW	16	32,448,997 (GRCm39)	missense	probably damaging	1.00
R1474:Tfrc	UTSW	16	32,445,467 (GRCm39)	missense	probably damaging	0.99
R1613:Tfrc	UTSW	16	32,442,193 (GRCm39)	missense	probably damaging	1.00
R1694:Tfrc	UTSW	16	32,433,443 (GRCm39)	missense	probably damaging	0.99
R2430:Tfrc	UTSW	16	32,445,529 (GRCm39)	missense	probably damaging	1.00
R3807:Tfrc	UTSW	16	32,435,644 (GRCm39)	missense	possibly damaging	0.47
R4613:Tfrc	UTSW	16	32,437,475 (GRCm39)	missense	probably damaging	1.00
R4661:Tfrc	UTSW	16	32,448,969 (GRCm39)	missense	probably damaging	0.99
R4974:Tfrc	UTSW	16	32,437,097 (GRCm39)	missense	probably damaging	0.99
R5138:Tfrc	UTSW	16	32,434,027 (GRCm39)	nonsense	probably null
R5867:Tfrc	UTSW	16	32,439,230 (GRCm39)	missense	possibly damaging	0.71
R5942:Tfrc	UTSW	16	32,445,533 (GRCm39)	missense	possibly damaging	0.65
R6185:Tfrc	UTSW	16	32,437,090 (GRCm39)	missense	probably benign	0.19
R6417:Tfrc	UTSW	16	32,449,057 (GRCm39)	missense	probably damaging	0.99
R7453:Tfrc	UTSW	16	32,437,867 (GRCm39)	missense	probably damaging	1.00
R7559:Tfrc	UTSW	16	32,440,235 (GRCm39)	splice site	probably null
R7791:Tfrc	UTSW	16	32,437,985 (GRCm39)	missense	probably benign	0.00
R7792:Tfrc	UTSW	16	32,437,985 (GRCm39)	missense	probably benign	0.00
R7793:Tfrc	UTSW	16	32,437,985 (GRCm39)	missense	probably benign	0.00
R7830:Tfrc	UTSW	16	32,437,985 (GRCm39)	missense	probably benign	0.00
R7832:Tfrc	UTSW	16	32,437,985 (GRCm39)	missense	probably benign	0.00
R7943:Tfrc	UTSW	16	32,449,039 (GRCm39)	missense	probably benign
R7974:Tfrc	UTSW	16	32,440,101 (GRCm39)	missense	probably null	0.89
R7980:Tfrc	UTSW	16	32,435,967 (GRCm39)	missense	probably benign	0.04
R8055:Tfrc	UTSW	16	32,437,474 (GRCm39)	missense	probably benign	0.24
R8215:Tfrc	UTSW	16	32,443,848 (GRCm39)	missense	probably damaging	1.00
R9095:Tfrc	UTSW	16	32,433,571 (GRCm39)	missense	possibly damaging	0.77
R9379:Tfrc	UTSW	16	32,443,819 (GRCm39)	missense	probably damaging	1.00
R9677:Tfrc	UTSW	16	32,434,179 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAGCTGTCCTACATCTCTGTGC -3'
(R):5'- TGATAGGTAGCCTCACAACAATATC -3'

Sequencing Primer
(F):5'- CCATTTTTGCCTTTGTGTAGTATG -3'
(R):5'- GGATTAGATTCAGTTATGGCCAATG -3'

Posted On

2016-11-09