Mutagenetix > Incidental Mutation

Incidental Mutation 'R7231:Trf'

562483

Institutional Source

Beutler Lab

Gene Symbol

Trf

Ensembl Gene

ENSMUSG00000032554

Gene Name

transferrin

Synonyms

HP, Tfn

MMRRC Submission

045342-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7231 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103086075-103107485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 103102347 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Phenylalanine at position 177 (C177F)

Ref Sequence

ENSEMBL: ENSMUSP00000035158 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000035158] [ENSMUST00000112645] [ENSMUST00000126359] [ENSMUST00000164377] [ENSMUST00000165296] [ENSMUST00000166836] [ENSMUST00000170904]

AlphaFold

Q921I1

Predicted Effect

probably damaging
Transcript: ENSMUST00000035158
AA Change: C177F

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

SMART Domains

Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: C177F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	352	5.04e-194	SMART
TR_FER	360	686	8.64e-193	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000112645
AA Change: C177F

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

SMART Domains

Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: C177F

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	352	5.04e-194	SMART
TR_FER	360	686	8.64e-193	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000126359
AA Change: C174F

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

SMART Domains

Protein: ENSMUSP00000120472
Gene: ENSMUSG00000032554
AA Change: C174F

Domain	Start	End	E-Value	Type
TR_FER	22	237	2.25e-77	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000164377

SMART Domains

Protein: ENSMUSP00000128647
Gene: ENSMUSG00000032554

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:Transferrin	25	72	6.6e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000165296

SMART Domains

Protein: ENSMUSP00000129013
Gene: ENSMUSG00000032554

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
TR_FER	25	171	5.58e-15	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166836

SMART Domains

Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639

Domain	Start	End	E-Value	Type
low complexity region	6	19	N/A	INTRINSIC
TR_FER	25	338	4.98e-175	SMART
TR_FER	346	672	8.64e-193	SMART
Pfam:Arf	758	928	1.5e-15	PFAM
Pfam:SRPRB	769	948	1.4e-73	PFAM
Pfam:MMR_HSR1	773	888	7.8e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000170904

SMART Domains

Protein: ENSMUSP00000128390
Gene: ENSMUSG00000032554

Domain	Start	End	E-Value	Type
TR_FER	15	275	7.6e-139	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (78/80)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a glycoprotein with an approximate molecular weight of 76.5 kDa. It is thought to have been created as a result of an ancient gene duplication event that led to generation of homologous C and N-terminal domains each of which binds one ion of ferric iron. The function of this protein is to transport iron from the intestine, reticuloendothelial system, and liver parenchymal cells to all proliferating cells in the body. This protein may also have a physiologic role as granulocyte/pollen-binding protein (GPBP) involved in the removal of certain organic matter and allergens from serum. [provided by RefSeq, Sep 2009]
PHENOTYPE: Homozygotes for a spontaneous mutation exhibit refractory iron-deficient, hypochromic, microcytic anemia with iron-loading in the liver, pancreas, heart and brain. Mutants usually die by two weeks of age. Heterozygotes show minor increases in iron stores. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	A	T	11: 9,244,175 (GRCm39)	T2013S	probably benign	Het
Ablim3	A	G	18: 61,938,135 (GRCm39)		probably null	Het
Acvrl1	T	A	15: 101,034,104 (GRCm39)	C206*	probably null	Het
Adamts15	C	A	9: 30,817,454 (GRCm39)	R541S	probably damaging	Het
Add3	A	G	19: 53,221,577 (GRCm39)	I230V	probably benign	Het
Ankrd27	A	G	7: 35,327,871 (GRCm39)	D742G	possibly damaging	Het
Asxl3	A	G	18: 22,650,597 (GRCm39)	E862G	probably damaging	Het
Asxl3	A	T	18: 22,544,556 (GRCm39)		probably null	Het
Atp2b2	G	A	6: 113,742,693 (GRCm39)	T798M	possibly damaging	Het
Car12	T	C	9: 66,659,599 (GRCm39)	I208T	probably damaging	Het
Cgn	T	A	3: 94,680,502 (GRCm39)	Q600L	probably damaging	Het
Cgnl1	C	T	9: 71,539,927 (GRCm39)	A1106T	probably benign	Het
Cmtr2	T	C	8: 110,949,178 (GRCm39)	V496A	probably benign	Het
Cplx4	C	A	18: 66,090,123 (GRCm39)	D99Y	probably damaging	Het
Cyfip2	T	C	11: 46,114,963 (GRCm39)	T915A	probably benign	Het
Cyp4a32	T	C	4: 115,466,894 (GRCm39)	L193P	probably damaging	Het
Dennd5b	C	T	6: 148,946,102 (GRCm39)	R503Q	probably damaging	Het
Depdc5	C	A	5: 33,059,209 (GRCm39)	Q303K	possibly damaging	Het
Dlx1	T	A	2: 71,362,840 (GRCm39)	M249K	possibly damaging	Het
Dnah10	A	T	5: 124,890,892 (GRCm39)	E3218V	probably benign	Het
Dnah9	T	C	11: 65,856,473 (GRCm39)	D2896G	probably damaging	Het
Dtx4	C	A	19: 12,447,022 (GRCm39)	G557*	probably null	Het
Eps8l2	A	G	7: 140,940,305 (GRCm39)	N512D	probably damaging	Het
Fam20a	T	C	11: 109,612,201 (GRCm39)	D114G	possibly damaging	Het
Fbln1	T	C	15: 85,090,353 (GRCm39)	S7P	unknown	Het
Fli1	T	C	9: 32,335,484 (GRCm39)	E316G	probably damaging	Het
Fmn2	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	CCCTCCTCTCCCTGGAATGGGAATACCTCCCCCACCTCCTCTCCCTGGAATGGGAATATCTCCCCTACCTCCTCTCCCTGGAATGGGAATACCTCC	1: 174,436,769 (GRCm39)		probably benign	Het
Haus8	G	A	8: 71,705,781 (GRCm39)	T302I	probably benign	Het
Hmcn1	T	C	1: 150,514,627 (GRCm39)	I3582V	probably benign	Het
Hnrnpul1	G	A	7: 25,447,842 (GRCm39)	Q161*	probably null	Het
Hsf4	C	T	8: 105,998,779 (GRCm39)	A223V	probably damaging	Het
Ighg2c	A	G	12: 113,251,636 (GRCm39)	W164R		Het
Isl1	A	G	13: 116,439,826 (GRCm39)	V174A	probably benign	Het
Itih4	A	T	14: 30,618,571 (GRCm39)	I661F	probably benign	Het
Klhl14	A	T	18: 21,785,193 (GRCm39)	L78Q	probably damaging	Het
L3mbtl3	T	A	10: 26,215,180 (GRCm39)	I177F	unknown	Het
Lingo3	T	A	10: 80,670,938 (GRCm39)	T331S	possibly damaging	Het
Lrrc36	T	C	8: 106,187,689 (GRCm39)	V535A	possibly damaging	Het
Mapk8ip2	T	G	15: 89,342,279 (GRCm39)	S497A	probably benign	Het
Mbip	A	G	12: 56,384,547 (GRCm39)		probably null	Het
Nelfa	C	T	5: 34,056,169 (GRCm39)	G498D	probably damaging	Het
Nherf2	C	T	17: 24,869,078 (GRCm39)	R16H	probably damaging	Het
Nlrc5	T	A	8: 95,248,433 (GRCm39)		probably null	Het
Or2ag2b	A	T	7: 106,417,650 (GRCm39)	Y120F	probably damaging	Het
Or4f59	A	T	2: 111,872,711 (GRCm39)	V222D	probably damaging	Het
Or56a3	T	C	7: 104,734,994 (GRCm39)	S24P	possibly damaging	Het
Or7e171-ps1	T	A	9: 19,852,855 (GRCm39)	T294S	unknown	Het
Pde2a	A	G	7: 101,155,160 (GRCm39)	Y567C	probably damaging	Het
Pdia4	A	T	6: 47,777,891 (GRCm39)	F367Y	probably benign	Het
Pkdrej	C	A	15: 85,700,389 (GRCm39)	C1849F	possibly damaging	Het
Plekhj1	T	G	10: 80,633,492 (GRCm39)	T52P	probably damaging	Het
Ppp2r5d	A	T	17: 46,994,986 (GRCm39)	Y572N	probably benign	Het
Prkcq	T	A	2: 11,295,262 (GRCm39)	Y570*	probably null	Het
Ptpn3	T	A	4: 57,245,062 (GRCm39)	D226V	probably damaging	Het
Rab1b	A	G	19: 5,155,229 (GRCm39)	S22P	probably damaging	Het
Ralgapa1	A	G	12: 55,650,976 (GRCm39)	S2060P	probably damaging	Het
Rnf148	G	T	6: 23,654,890 (GRCm39)	S35R	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Samd15	T	A	12: 87,247,818 (GRCm39)	S168T	possibly damaging	Het
Slc26a4	T	A	12: 31,597,945 (GRCm39)	N167I	probably damaging	Het
Slc39a1	C	A	3: 90,159,097 (GRCm39)	H141Q	probably benign	Het
Snx21	T	C	2: 164,628,121 (GRCm39)	S46P	probably benign	Het
Strip2	A	G	6: 29,944,486 (GRCm39)	S657G	probably damaging	Het
Stxbp3	G	A	3: 108,708,125 (GRCm39)	P392L	probably damaging	Het
Suclg1	G	A	6: 73,240,954 (GRCm39)	R161H	probably benign	Het
Tas1r3	T	C	4: 155,947,283 (GRCm39)	Y134C	probably damaging	Het
Tgif1	T	A	17: 71,153,168 (GRCm39)	Q114L	probably damaging	Het
Tll2	A	G	19: 41,074,673 (GRCm39)	F964L	probably benign	Het
Tmem181a	T	C	17: 6,348,195 (GRCm39)	S247P	possibly damaging	Het
Trav23	A	T	14: 54,215,025 (GRCm39)	R79S	probably damaging	Het
Triml1	T	C	8: 43,589,408 (GRCm39)	Y260C	probably benign	Het
Tulp4	T	C	17: 6,286,510 (GRCm39)	F1513L	probably benign	Het
Umodl1	G	A	17: 31,205,090 (GRCm39)	V562I	probably damaging	Het
Ush2a	A	G	1: 188,491,960 (GRCm39)	K3083R	possibly damaging	Het
Vmn1r74	A	T	7: 11,580,888 (GRCm39)	I63F	probably benign	Het
Vmn2r38	C	T	7: 9,100,637 (GRCm39)	C43Y	possibly damaging	Het
Vmn2r50	A	T	7: 9,787,010 (GRCm39)	N32K	probably benign	Het
Vps13d	A	G	4: 144,784,032 (GRCm39)	V3914A		Het
Vwa5b2	A	G	16: 20,422,878 (GRCm39)	T984A	probably benign	Het
Zc3h3	C	T	15: 75,712,231 (GRCm39)	V77M	probably damaging	Het
Zfp397	A	T	18: 24,093,415 (GRCm39)	H300L	probably damaging	Het
Zfp950	G	A	19: 61,107,650 (GRCm39)	R478C	probably benign	Het

Other mutations in Trf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Trf	APN	9	103,098,156 (GRCm39)	missense	probably benign	0.00
IGL00424:Trf	APN	9	103,104,135 (GRCm39)	missense	probably damaging	1.00
IGL00793:Trf	APN	9	103,103,342 (GRCm39)	unclassified	probably benign
IGL01139:Trf	APN	9	103,100,803 (GRCm39)	missense	probably damaging	1.00
IGL01658:Trf	APN	9	103,104,055 (GRCm39)	missense	probably benign	0.04
IGL02671:Trf	APN	9	103,089,181 (GRCm39)	missense	probably benign	0.01
IGL02996:Trf	APN	9	103,098,102 (GRCm39)	missense	probably benign	0.01
R0060:Trf	UTSW	9	103,098,121 (GRCm39)	missense	probably benign	0.11
R0060:Trf	UTSW	9	103,098,121 (GRCm39)	missense	probably benign	0.11
R0096:Trf	UTSW	9	103,099,358 (GRCm39)	missense	probably damaging	1.00
R0096:Trf	UTSW	9	103,099,358 (GRCm39)	missense	probably damaging	1.00
R0112:Trf	UTSW	9	103,104,155 (GRCm39)	unclassified	probably benign
R0234:Trf	UTSW	9	103,104,078 (GRCm39)	splice site	probably null
R0234:Trf	UTSW	9	103,104,078 (GRCm39)	splice site	probably null
R0411:Trf	UTSW	9	103,094,700 (GRCm39)	missense	probably damaging	1.00
R0456:Trf	UTSW	9	103,104,102 (GRCm39)	missense	probably damaging	1.00
R0601:Trf	UTSW	9	103,100,132 (GRCm39)	critical splice donor site	probably null
R1419:Trf	UTSW	9	103,103,307 (GRCm39)	missense	probably damaging	1.00
R1606:Trf	UTSW	9	103,102,335 (GRCm39)	splice site	probably null
R3943:Trf	UTSW	9	103,100,151 (GRCm39)	missense	probably benign	0.00
R4431:Trf	UTSW	9	103,089,075 (GRCm39)	missense	possibly damaging	0.81
R4609:Trf	UTSW	9	103,089,184 (GRCm39)	missense	possibly damaging	0.81
R4658:Trf	UTSW	9	103,100,807 (GRCm39)	missense	probably damaging	1.00
R4830:Trf	UTSW	9	103,105,114 (GRCm39)	missense	probably damaging	0.98
R4925:Trf	UTSW	9	103,096,445 (GRCm39)	missense	probably benign	0.00
R4929:Trf	UTSW	9	103,105,074 (GRCm39)	intron	probably benign
R4931:Trf	UTSW	9	103,105,247 (GRCm39)	missense	probably damaging	0.99
R5139:Trf	UTSW	9	103,100,133 (GRCm39)	critical splice donor site	probably null
R5272:Trf	UTSW	9	103,105,177 (GRCm39)	missense	probably damaging	1.00
R5692:Trf	UTSW	9	103,103,324 (GRCm39)	missense	possibly damaging	0.87
R6227:Trf	UTSW	9	103,107,504 (GRCm39)	start gained	probably benign
R6365:Trf	UTSW	9	103,099,327 (GRCm39)	missense	possibly damaging	0.70
R6928:Trf	UTSW	9	103,099,307 (GRCm39)	missense	possibly damaging	0.56
R7127:Trf	UTSW	9	103,102,326 (GRCm39)	missense	probably benign
R7648:Trf	UTSW	9	103,105,168 (GRCm39)	missense	probably benign	0.01
R8088:Trf	UTSW	9	103,089,130 (GRCm39)	missense	probably damaging	1.00
R8095:Trf	UTSW	9	103,087,735 (GRCm39)	missense	probably damaging	1.00
R8317:Trf	UTSW	9	103,094,715 (GRCm39)	missense	probably damaging	1.00
R8443:Trf	UTSW	9	103,094,675 (GRCm39)	missense	probably damaging	0.98
R8735:Trf	UTSW	9	103,087,723 (GRCm39)	missense	probably damaging	0.99
R8854:Trf	UTSW	9	103,107,529 (GRCm39)	unclassified	probably benign
R9131:Trf	UTSW	9	103,089,087 (GRCm39)	missense	probably damaging	0.99
R9360:Trf	UTSW	9	103,094,734 (GRCm39)	critical splice acceptor site	probably null
R9499:Trf	UTSW	9	103,099,283 (GRCm39)	missense	probably benign	0.00
R9526:Trf	UTSW	9	103,104,130 (GRCm39)	missense	probably damaging	1.00
R9551:Trf	UTSW	9	103,099,283 (GRCm39)	missense	probably benign	0.00
R9552:Trf	UTSW	9	103,099,283 (GRCm39)	missense	probably benign	0.00
R9710:Trf	UTSW	9	103,103,217 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GGTAGGTTGGCTCAGCAAAG -3'
(R):5'- GAAGTACTGCTTGTGTCCCC -3'

Sequencing Primer
(F):5'- GAGCCCCCATTTGAGGACTTTTG -3'
(R):5'- CTGAAGAGCAGGGGTTAACTTATTCC -3'

Posted On

2019-06-26