Mutagenetix > Incidental Mutation

Incidental Mutation 'R7980:Tfrc'

651179

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

046021-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7980 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32427738-32451612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 32435967 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 215 (V215M)

Ref Sequence

ENSEMBL: ENSMUSP00000023486 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000023486] [ENSMUST00000120680] [ENSMUST00000124243]

AlphaFold

Q62351

Predicted Effect

probably benign
Transcript: ENSMUST00000023486
AA Change: V215M

PolyPhen 2 Score 0.037 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: V215M

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

possibly damaging
Transcript: ENSMUST00000120680
AA Change: V215M

PolyPhen 2 Score 0.906 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: V215M

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

probably benign
Transcript: ENSMUST00000124243

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (87/87)

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: 89 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	A	G	4: 88,786,315 (GRCm39)	L101P	unknown	Het
Actn3	G	A	19: 4,917,950 (GRCm39)	P339L	probably damaging	Het
Adamts12	G	A	15: 11,263,423 (GRCm39)	C595Y	probably damaging	Het
Adrm1b	T	A	3: 92,336,406 (GRCm39)	K99*	probably null	Het
Agl	A	T	3: 116,585,830 (GRCm39)	N99K	probably benign	Het
Aplp1	A	T	7: 30,134,992 (GRCm39)	M592K	probably benign	Het
Arhgef11	C	T	3: 87,605,297 (GRCm39)	R251C	probably benign	Het
Arhgef12	A	T	9: 42,882,595 (GRCm39)	C1416*	probably null	Het
Asah1	A	G	8: 41,807,067 (GRCm39)	M119T		Het
Asxl2	A	T	12: 3,546,630 (GRCm39)	Q471H	probably damaging	Het
Atp6v1c2	A	T	12: 17,371,613 (GRCm39)	D61E	probably damaging	Het
Btbd16	C	A	7: 130,426,097 (GRCm39)	P520Q	probably damaging	Het
Cacnb2	A	G	2: 14,609,326 (GRCm39)	E22G	probably benign	Het
Catspere2	G	T	1: 177,830,610 (GRCm39)		probably null	Het
Cdc25a	T	A	9: 109,708,949 (GRCm39)	D124E	probably damaging	Het
Cdc42se1	A	T	3: 95,139,166 (GRCm39)		probably benign	Het
Cdcp3	T	A	7: 130,836,506 (GRCm39)	V400E	probably damaging	Het
Cfap54	T	C	10: 92,817,922 (GRCm39)	K1265E	possibly damaging	Het
Chaf1b	A	G	16: 93,681,415 (GRCm39)	H11R	probably damaging	Het
Chil4	T	C	3: 106,110,060 (GRCm39)	K345E	probably damaging	Het
Cntnap1	A	G	11: 101,079,719 (GRCm39)	I1283V	probably benign	Het
Dagla	C	T	19: 10,229,406 (GRCm39)	C618Y	possibly damaging	Het
Ddx19b	C	T	8: 111,738,077 (GRCm39)	V224M	possibly damaging	Het
Dohh	C	T	10: 81,223,726 (GRCm39)	R260*	probably null	Het
Dsg3	A	T	18: 20,664,417 (GRCm39)	N472Y	probably benign	Het
Duox1	T	A	2: 122,177,801 (GRCm39)	N1528K	possibly damaging	Het
Eml6	A	G	11: 29,783,205 (GRCm39)	Y559H	probably damaging	Het
Esp4	A	G	17: 40,913,192 (GRCm39)	T20A	possibly damaging	Het
Fbxw21	T	C	9: 108,985,639 (GRCm39)		probably null	Het
Gcc2	T	A	10: 58,114,574 (GRCm39)		probably null	Het
Grin3b	C	T	10: 79,811,559 (GRCm39)	A715V	possibly damaging	Het
Gxylt2	A	T	6: 100,764,170 (GRCm39)		probably null	Het
Hspa4	A	T	11: 53,171,404 (GRCm39)	S267T	probably benign	Het
Hspd1	A	G	1: 55,117,785 (GRCm39)	V491A	possibly damaging	Het
Idua	A	G	5: 108,828,486 (GRCm39)	E280G	probably benign	Het
Ift172	T	A	5: 31,417,988 (GRCm39)	E1267V	probably benign	Het
Itsn1	T	A	16: 91,702,182 (GRCm39)	V1448E	unknown	Het
Kat6a	A	G	8: 23,416,432 (GRCm39)	M647V	possibly damaging	Het
Kcnq4	A	T	4: 120,568,494 (GRCm39)	D407E	probably benign	Het
Kif1b	A	T	4: 149,354,378 (GRCm39)	F221I	probably damaging	Het
Lama2	G	T	10: 27,239,609 (GRCm39)	D315E	probably damaging	Het
Lrrn4	G	A	2: 132,720,096 (GRCm39)	L235F	probably damaging	Het
Map2k6	T	A	11: 110,390,210 (GRCm39)	I248N		Het
Mgat5	A	G	1: 127,407,248 (GRCm39)	Q638R	probably benign	Het
Mia2	A	G	12: 59,155,651 (GRCm39)	K455E	probably damaging	Het
Mrs2	A	G	13: 25,204,221 (GRCm39)	C3R	possibly damaging	Het
Nprl3	A	G	11: 32,187,357 (GRCm39)	I325T	probably damaging	Het
Nr1h3	T	A	2: 91,021,229 (GRCm39)	Q186L	probably benign	Het
Oas1f	A	G	5: 120,989,538 (GRCm39)	E159G	probably benign	Het
Or2g7	A	T	17: 38,378,412 (GRCm39)	M117L	possibly damaging	Het
Or4k15b	T	A	14: 50,272,252 (GRCm39)	S203C	probably damaging	Het
Or52ae7	T	A	7: 103,119,504 (GRCm39)	F86Y	probably damaging	Het
Or52e19b	T	A	7: 103,032,970 (GRCm39)	I80F	probably damaging	Het
Or52s1b	T	A	7: 102,822,242 (GRCm39)	S201C	probably damaging	Het
Or5m12	A	G	2: 85,734,942 (GRCm39)	F152S	probably benign	Het
Or8g4	T	C	9: 39,662,417 (GRCm39)	I245T	probably damaging	Het
Or9a4	T	A	6: 40,549,154 (GRCm39)	I278N	probably benign	Het
Pbxip1	G	C	3: 89,353,648 (GRCm39)	S267T	probably benign	Het
Pcdhga10	A	T	18: 37,881,645 (GRCm39)	I469F	possibly damaging	Het
Pkd1l1	A	G	11: 8,804,375 (GRCm39)	S1739P	probably damaging	Het
Plcd4	A	C	1: 74,604,464 (GRCm39)	N788T	probably benign	Het
Pms2	T	A	5: 143,867,909 (GRCm39)	W838R	probably damaging	Het
Pnpla6	T	A	8: 3,586,562 (GRCm39)	V926D	probably damaging	Het
Pros1	A	T	16: 62,748,516 (GRCm39)	H663L	possibly damaging	Het
Prss55	T	C	14: 64,316,138 (GRCm39)		probably null	Het
Pum2	T	C	12: 8,763,904 (GRCm39)	Y283H	probably damaging	Het
Rad21	A	G	15: 51,828,422 (GRCm39)	S549P	probably benign	Het
Sap130	T	A	18: 31,781,182 (GRCm39)		probably null	Het
Sertad4	C	T	1: 192,529,189 (GRCm39)	S209N	probably benign	Het
Sez6	A	G	11: 77,844,668 (GRCm39)	T164A	probably benign	Het
Slc22a28	C	T	19: 8,078,837 (GRCm39)	R284Q	probably damaging	Het
Slco4c1	T	C	1: 96,764,650 (GRCm39)	K474R	probably benign	Het
Stx5a	T	C	19: 8,719,802 (GRCm39)	S56P	probably damaging	Het
Svopl	T	C	6: 37,991,744 (GRCm39)	T379A	probably damaging	Het
Sypl2	A	G	3: 108,125,008 (GRCm39)	F118L	probably damaging	Het
Thnsl2	T	C	6: 71,115,652 (GRCm39)	N185S	probably damaging	Het
Tmem104	T	C	11: 115,134,580 (GRCm39)	I372T	probably damaging	Het
Tnfaip6	G	A	2: 51,941,070 (GRCm39)	G204S	probably damaging	Het
Trim12a	C	T	7: 103,953,335 (GRCm39)	E259K	probably benign	Het
Tubgcp6	G	A	15: 88,986,232 (GRCm39)	R1436C	probably benign	Het
Tyrp1	C	T	4: 80,758,864 (GRCm39)	L246F	probably damaging	Het
Ubr4	G	T	4: 139,145,717 (GRCm39)	V216F		Het
Unc5a	A	G	13: 55,147,319 (GRCm39)	I409V	possibly damaging	Het
Vmn1r15	T	C	6: 57,235,399 (GRCm39)	L89P	probably damaging	Het
Vmn1r32	A	T	6: 66,530,305 (GRCm39)	L157*	probably null	Het
Zcchc24	A	G	14: 25,720,185 (GRCm39)	Y160H	probably damaging	Het
Zfp184	A	T	13: 22,144,376 (GRCm39)	H694L	probably damaging	Het
Zfp345	A	C	2: 150,314,723 (GRCm39)	Y271*	probably null	Het
Zranb3	T	C	1: 128,030,671 (GRCm39)		probably benign	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
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
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'- GATGGTCAGTAGATGAAACTTGC -3'
(R):5'- GGTCTTACAAAACAAAATGGGACC -3'

Sequencing Primer
(F):5'- GTCAGTAGATGAAACTTGCAAAATG -3'
(R):5'- GGGACCTTAAAATTCATCCAAAGG -3'

Posted On

2020-09-15