Mutagenetix > Incidental Mutation

Incidental Mutation 'R6185:Tfrc'

502136

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

044325-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6185 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32427738-32451612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 32437090 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 250 (Y250N)

Ref Sequence

ENSEMBL: ENSMUSP00000023486 (fasta)

Gene Model

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

AlphaFold

Q62351

Predicted Effect

probably benign
Transcript: ENSMUST00000023486
AA Change: Y250N

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: Y250N

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 benign
Transcript: ENSMUST00000120680
AA Change: Y250N

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: Y250N

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

96% (80/83)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca1	A	T	4: 53,078,089 (GRCm39)	H894Q	probably benign	Het
Abca4	A	T	3: 121,919,789 (GRCm39)	I1024F	probably damaging	Het
Acadl	A	G	1: 66,877,522 (GRCm39)	V343A	possibly damaging	Het
Akr1e1	T	A	13: 4,651,252 (GRCm39)	I123L	probably benign	Het
Angptl2	T	C	2: 33,119,026 (GRCm39)	S267P	probably benign	Het
Ap2a1	T	G	7: 44,565,594 (GRCm39)	K91T	probably damaging	Het
Bend7	A	T	2: 4,793,333 (GRCm39)	Q379L	probably damaging	Het
Bicdl1	C	T	5: 115,808,212 (GRCm39)		probably null	Het
Cachd1	C	A	4: 100,838,228 (GRCm39)	Y830*	probably null	Het
Ccdc158	T	A	5: 92,814,713 (GRCm39)	I38F	possibly damaging	Het
Cep97	T	A	16: 55,735,455 (GRCm39)	M448L	probably benign	Het
Chd9	A	G	8: 91,775,765 (GRCm39)	D2572G	probably damaging	Het
Clcnkb	C	T	4: 141,141,825 (GRCm39)	V54M	probably benign	Het
Cln8	A	G	8: 14,946,544 (GRCm39)	D186G	probably benign	Het
Crxos	C	T	7: 15,636,805 (GRCm39)	S22L	possibly damaging	Het
Cx3cr1	A	T	9: 119,880,444 (GRCm39)	H319Q	probably benign	Het
Cyp2j6	G	C	4: 96,424,323 (GRCm39)	L145V	probably damaging	Het
Dmrta1	A	G	4: 89,580,005 (GRCm39)	R322G	probably damaging	Het
Dpf1	A	G	7: 29,010,696 (GRCm39)	E103G	possibly damaging	Het
Dsg1b	T	G	18: 20,532,543 (GRCm39)	V529G	probably benign	Het
Dst	G	A	1: 34,212,161 (GRCm39)	V1361I	probably damaging	Het
Epha4	T	C	1: 77,483,743 (GRCm39)	I89V	probably damaging	Het
Etfdh	G	T	3: 79,513,114 (GRCm39)	H370N	probably benign	Het
Fam186a	A	G	15: 99,845,530 (GRCm39)	I238T	unknown	Het
Fbxl5	T	A	5: 43,978,894 (GRCm39)	S19C	probably benign	Het
Fkbpl	G	A	17: 34,864,303 (GRCm39)	A24T	probably benign	Het
Fryl	A	G	5: 73,270,131 (GRCm39)	V367A	probably benign	Het
Gm19410	T	A	8: 36,274,664 (GRCm39)	L1495H	possibly damaging	Het
Gm19965	A	G	1: 116,749,003 (GRCm39)	E228G	possibly damaging	Het
Gpr89	C	A	3: 96,798,149 (GRCm39)	C169F	probably damaging	Het
Hmcn1	A	T	1: 150,491,189 (GRCm39)		probably null	Het
Hsph1	A	T	5: 149,541,160 (GRCm39)	C753S	probably damaging	Het
Igf2	T	A	7: 142,212,118 (GRCm39)	S4C	possibly damaging	Het
Kansl3	A	T	1: 36,385,099 (GRCm39)	S486T	probably damaging	Het
Khdrbs1	G	C	4: 129,636,068 (GRCm39)		probably benign	Het
Lnx1	A	T	5: 74,846,269 (GRCm39)	C60*	probably null	Het
Lrpprc	T	C	17: 85,074,452 (GRCm39)	D485G	probably benign	Het
Ly6i	A	T	15: 74,851,879 (GRCm39)	S97T	possibly damaging	Het
Me2	G	A	18: 73,924,199 (GRCm39)	Q338*	probably null	Het
Med16	A	T	10: 79,732,197 (GRCm39)	L790Q	probably damaging	Het
Muc16	G	T	9: 18,565,769 (GRCm39)	T2250K	unknown	Het
Myo10	T	G	15: 25,726,596 (GRCm39)	F273C	probably damaging	Het
Neil3	T	A	8: 54,052,182 (GRCm39)	H472L	probably benign	Het
Nrxn1	T	A	17: 90,344,564 (GRCm39)	S57C	probably damaging	Het
Nup188	A	T	2: 30,231,722 (GRCm39)	T1439S	probably damaging	Het
Or10g3	T	C	14: 52,610,019 (GRCm39)	T164A	possibly damaging	Het
Or10g7	T	C	9: 39,905,420 (GRCm39)	F105L	probably benign	Het
Or5w10	A	G	2: 87,375,087 (GRCm39)	M267T	possibly damaging	Het
Otud7a	T	A	7: 63,408,133 (GRCm39)	L812Q	probably damaging	Het
Paip2b	C	T	6: 83,786,952 (GRCm39)	A95T	probably benign	Het
Pax4	C	T	6: 28,446,347 (GRCm39)	V49I	probably damaging	Het
Plek	C	T	11: 16,931,829 (GRCm39)	A341T	probably damaging	Het
Prkag1	G	A	15: 98,723,595 (GRCm39)	P10L	probably benign	Het
R3hdm1	A	C	1: 128,079,598 (GRCm39)	D15A	possibly damaging	Het
Rad54b	A	T	4: 11,593,804 (GRCm39)	D144V	possibly damaging	Het
Rmi2	C	T	16: 10,704,073 (GRCm39)	T138I	probably benign	Het
Sbf1	A	G	15: 89,189,814 (GRCm39)	L379P	probably damaging	Het
Sec14l3	A	T	11: 4,025,244 (GRCm39)	I285F	probably damaging	Het
Sec31b	A	T	19: 44,531,723 (GRCm39)	I62N	possibly damaging	Het
Selp	A	G	1: 163,953,915 (GRCm39)	N72D	probably damaging	Het
Sipa1l1	T	A	12: 82,471,802 (GRCm39)	S1261T	probably damaging	Het
Sipa1l2	A	T	8: 126,194,992 (GRCm39)	Y915*	probably null	Het
Slc22a27	A	T	19: 7,903,953 (GRCm39)	D61E	probably benign	Het
Slc2a7	A	G	4: 150,233,450 (GRCm39)	T8A	probably benign	Het
Slc5a2	T	C	7: 127,870,349 (GRCm39)	I529T	probably damaging	Het
Spart	A	C	3: 55,024,640 (GRCm39)	Q78H	probably damaging	Het
Spocd1	T	C	4: 129,850,242 (GRCm39)	I756T	probably benign	Het
Stc1	G	A	14: 69,275,813 (GRCm39)	C202Y	probably damaging	Het
Stk10	A	G	11: 32,527,749 (GRCm39)	T166A	probably benign	Het
Syt6	A	T	3: 103,492,844 (GRCm39)	D32V	probably damaging	Het
Tanc1	T	A	2: 59,621,929 (GRCm39)		probably null	Het
Tanc2	T	A	11: 105,803,865 (GRCm39)	N297K	probably damaging	Het
Telo2	A	G	17: 25,321,014 (GRCm39)	S734P	probably benign	Het
Tmem97	C	T	11: 78,434,388 (GRCm39)	W65*	probably null	Het
Ubr3	T	C	2: 69,768,621 (GRCm39)	M476T	probably damaging	Het
Ubtf	T	C	11: 102,204,849 (GRCm39)	T117A	probably damaging	Het
Usp17lb	T	A	7: 104,490,631 (GRCm39)	M99L	probably benign	Het
Uvrag	A	C	7: 98,790,039 (GRCm39)		probably null	Het
Vmn2r63	A	G	7: 42,578,435 (GRCm39)	S153P	probably damaging	Het
Vmn2r90	A	T	17: 17,953,644 (GRCm39)	T603S	probably damaging	Het
Vps8	C	A	16: 21,288,891 (GRCm39)	L417I	probably 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
R5668:Tfrc	UTSW	16	32,442,194 (GRCm39)	missense	probably damaging	1.00
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
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'- AGTTTGGAATTTTATTTTGCCCGCC -3'
(R):5'- AGCTTTGGGCATTTGCAACC -3'

Sequencing Primer
(F):5'- TGCCTCCCAAGTACTAAGATTAGAGG -3'
(R):5'- TACAGAGAAATCTTCCCAGGAAAG -3'

Posted On

2018-02-27