Mutagenetix > Incidental Mutation

Incidental Mutation 'R7793:Tfrc'

600081

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

045849-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

32427738-32451612 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 32437985 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 346 (K346R)

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: K346R

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000023486
Gene: ENSMUSG00000022797
AA Change: K346R

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: K346R

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

SMART Domains

Protein: ENSMUSP00000113028
Gene: ENSMUSG00000022797
AA Change: K346R

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

Meta Mutation Damage Score

0.0907

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (94/94)

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: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2200002J24Rik	T	G	7: 30,399,368 (GRCm39)	I54S	probably damaging	Het
2310002L09Rik	C	T	4: 73,861,172 (GRCm39)	V143M	probably benign	Het
Abca1	T	C	4: 53,042,367 (GRCm39)	I1902V	not run	Het
Apob	A	C	12: 8,058,124 (GRCm39)	D2202A	probably damaging	Het
Arhgap44	T	A	11: 64,900,750 (GRCm39)	S623C	probably damaging	Het
Arhgef7	T	A	8: 11,874,507 (GRCm39)	W713R	possibly damaging	Het
Axdnd1	A	C	1: 156,166,313 (GRCm39)		probably null	Het
Bcl9l	C	A	9: 44,420,994 (GRCm39)	H1467N	probably damaging	Het
Bcl9l	T	C	9: 44,420,263 (GRCm39)	M1223T	probably benign	Het
Bltp2	C	T	11: 78,164,031 (GRCm39)	P1124L	possibly damaging	Het
Brinp3	A	G	1: 146,622,306 (GRCm39)	N236S	probably benign	Het
Cckbr	T	G	7: 105,082,798 (GRCm39)	L54V	probably benign	Het
Cd6	G	A	19: 10,775,722 (GRCm39)	Q246*	probably null	Het
Cep89	G	A	7: 35,129,353 (GRCm39)	R630H	probably damaging	Het
Ces3a	T	A	8: 105,782,293 (GRCm39)		probably null	Het
Cgnl1	T	A	9: 71,632,917 (GRCm39)	N145Y	probably damaging	Het
Col6a5	T	C	9: 105,775,934 (GRCm39)	D1707G	probably damaging	Het
Cyp2w1	A	G	5: 139,341,895 (GRCm39)	T103A	probably damaging	Het
Dip2a	A	T	10: 76,114,417 (GRCm39)	I1021N	probably benign	Het
Dnah2	T	C	11: 69,386,040 (GRCm39)	T981A	probably benign	Het
Dnah8	A	G	17: 31,074,918 (GRCm39)	I4546V	probably benign	Het
E2f8	A	C	7: 48,527,823 (GRCm39)	F106L	probably benign	Het
Ecpas	T	C	4: 58,853,150 (GRCm39)	N395S	probably damaging	Het
Eif4g1	G	A	16: 20,507,364 (GRCm39)	V1413I	probably benign	Het
Epha10	G	A	4: 124,808,246 (GRCm39)	V688I	probably benign	Het
Exoc2	A	T	13: 31,095,161 (GRCm39)	V245D	probably benign	Het
Eya4	T	A	10: 23,102,714 (GRCm39)	E23D	probably benign	Het
Fbxw10	T	A	11: 62,738,213 (GRCm39)	W36R	possibly damaging	Het
Gabbr1	G	A	17: 37,358,393 (GRCm39)	G44S	probably benign	Het
Gabrg3	T	A	7: 56,829,328 (GRCm39)	Q143L	probably benign	Het
Gm14412	A	C	2: 177,007,660 (GRCm39)	I78M	possibly damaging	Het
Gm7298	T	C	6: 121,737,563 (GRCm39)		probably null	Het
Hpse2	A	T	19: 43,376,509 (GRCm39)	L81Q	probably damaging	Het
Il18r1	A	G	1: 40,510,924 (GRCm39)	H3R	probably benign	Het
Kansl1l	T	C	1: 66,817,173 (GRCm39)	K396E	probably damaging	Het
Kbtbd3	T	A	9: 4,331,221 (GRCm39)	S532T	probably damaging	Het
Lrrtm4	T	C	6: 79,999,841 (GRCm39)	Y418H	probably damaging	Het
Mfng	G	A	15: 78,657,265 (GRCm39)	R70C	probably damaging	Het
Mx2	T	A	16: 97,348,083 (GRCm39)	I236K	probably damaging	Het
Mysm1	T	C	4: 94,853,369 (GRCm39)	Q410R	probably damaging	Het
Nlrp12	T	C	7: 3,294,030 (GRCm39)	N100S	probably benign	Het
Nlrp4b	T	A	7: 10,459,001 (GRCm39)	H773Q	probably benign	Het
Nlrp5	T	A	7: 23,123,343 (GRCm39)	S735T	possibly damaging	Het
Nt5c2	G	A	19: 46,880,020 (GRCm39)	R363W	probably benign	Het
Or12k8	A	G	2: 36,974,933 (GRCm39)	F276L	possibly damaging	Het
Or3a10	T	A	11: 73,935,614 (GRCm39)	H162L	possibly damaging	Het
Otud7b	A	T	3: 96,062,528 (GRCm39)	Y589F	probably benign	Het
P2rx1	T	A	11: 72,900,079 (GRCm39)	C165*	probably null	Het
Pax8	T	C	2: 24,319,609 (GRCm39)	D354G	possibly damaging	Het
Pdcd11	G	A	19: 47,094,871 (GRCm39)	V552I	probably benign	Het
Pde6c	G	T	19: 38,148,201 (GRCm39)	C485F	possibly damaging	Het
Pex5	T	C	6: 124,376,300 (GRCm39)	Y434C	probably benign	Het
Ppargc1a	T	C	5: 51,619,851 (GRCm39)		probably null	Het
Prss2	A	T	6: 41,501,886 (GRCm39)	D224V	possibly damaging	Het
Psd2	A	G	18: 36,136,032 (GRCm39)	N440S	probably benign	Het
Psmb3	T	A	11: 97,603,265 (GRCm39)	D159E	probably benign	Het
Ptgr2	T	G	12: 84,354,575 (GRCm39)	L252R	probably damaging	Het
Ptpro	A	T	6: 137,393,818 (GRCm39)	N829Y	probably damaging	Het
Rhobtb2	C	A	14: 70,034,280 (GRCm39)	R315L	probably benign	Het
Rimbp2	A	T	5: 128,866,759 (GRCm39)	V520D	possibly damaging	Het
Schip1	A	T	3: 68,401,911 (GRCm39)	Y24F	probably benign	Het
Sdha	A	T	13: 74,479,555 (GRCm39)	V432E	probably damaging	Het
Sez6	T	C	11: 77,868,426 (GRCm39)	L929P	probably damaging	Het
Shcbp1l	A	G	1: 153,323,571 (GRCm39)	I466V	probably benign	Het
Skor1	T	C	9: 63,052,167 (GRCm39)	S601G	probably damaging	Het
Slc6a7	A	C	18: 61,138,851 (GRCm39)	L219R	probably damaging	Het
Smok2a	T	C	17: 13,444,513 (GRCm39)	M30T	possibly damaging	Het
Sp8	A	G	12: 118,813,144 (GRCm39)	D333G	probably damaging	Het
Spp1	G	A	5: 104,588,200 (GRCm39)	D201N	probably damaging	Het
Sstr3	A	T	15: 78,424,588 (GRCm39)	L53Q	probably damaging	Het
Tacc2	T	A	7: 130,224,843 (GRCm39)	N509K	probably benign	Het
Tdrd1	T	C	19: 56,852,809 (GRCm39)	V1030A	probably damaging	Het
Tgm3	G	A	2: 129,854,330 (GRCm39)		probably null	Het
Tomm5	C	A	4: 45,106,651 (GRCm39)	L88F	unknown	Het
Trak1	T	A	9: 121,245,264 (GRCm39)	C46*	probably null	Het
Trim8	A	T	19: 46,504,053 (GRCm39)	D535V	probably damaging	Het
Trpm7	A	T	2: 126,665,995 (GRCm39)	Y870*	probably null	Het
Tspoap1	T	C	11: 87,655,136 (GRCm39)	L286P	probably benign	Het
Ttll3	AAGTA	AAGTAGAGTA	6: 113,376,120 (GRCm39)		probably null	Het
Ttn	T	A	2: 76,562,389 (GRCm39)	I28819F	probably damaging	Het
Twf2	T	C	9: 106,089,079 (GRCm39)	S89P	probably damaging	Het
Ulk4	C	T	9: 121,092,734 (GRCm39)	E168K	possibly damaging	Het
Unc13b	T	A	4: 43,172,737 (GRCm39)	N1188K	unknown	Het
Utp6	C	T	11: 79,828,556 (GRCm39)	V528I	probably benign	Het
Vmn1r78	T	C	7: 11,887,241 (GRCm39)	F284S	probably benign	Het
Vmn2r54	T	A	7: 12,366,196 (GRCm39)	Q246L	probably damaging	Het
Vmn2r87	A	G	10: 130,313,413 (GRCm39)	M451T	probably benign	Het
Vwf	C	T	6: 125,663,483 (GRCm39)	P2808L		Het
Wdr97	T	C	15: 76,243,307 (GRCm39)	L989P		Het
Wwc1	T	C	11: 35,759,936 (GRCm39)	Q693R	probably benign	Het
Zfp582	C	T	7: 6,356,886 (GRCm39)	S233L	probably damaging	Het
Zfp658	T	A	7: 43,224,108 (GRCm39)	H794Q	possibly damaging	Het
Zfp882	A	G	8: 72,666,985 (GRCm39)	D8G	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
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
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'- GCAACTTCCTGAGTAAGTGTTAG -3'
(R):5'- GCACCACAGTAGGAATGCAC -3'

Sequencing Primer
(F):5'- TCCATACACACCTGGCTT -3'
(R):5'- TAGCCAACTGCCACTTT -3'

Posted On

2019-11-26