Mutagenetix > Incidental Mutations

Incidental Mutation 'R0112:Trf'

20519

Institutional Source

Beutler Lab

Gene Symbol

Trf

Ensembl Gene

ENSMUSG00000032554

Gene Name

transferrin

Synonyms

HP, Tfn

MMRRC Submission

038398-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103204001-103230444 bp(-) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 103226956 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000128390 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000035158

SMART Domains

Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554

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

noncoding transcript
Transcript: ENSMUST00000112503

Predicted Effect

probably benign
Transcript: ENSMUST00000112645

SMART Domains

Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554

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 benign
Transcript: ENSMUST00000126359

SMART Domains

Protein: ENSMUSP00000120472
Gene: ENSMUSG00000032554

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: 99.0%
3x: 98.1%
10x: 96.0%
20x: 91.8%

Validation Efficiency

100% (86/86)

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: 81 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	T	A	2: 35,354,803	Y179F	probably benign	Het
Abcd4	A	G	12: 84,612,899		probably benign	Het
Abhd12b	C	T	12: 70,181,017	T191M	probably benign	Het
Adcy5	A	G	16: 35,156,178	E27G	possibly damaging	Het
Adgb	G	A	10: 10,407,158		probably benign	Het
Afdn	T	C	17: 13,884,637	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,651,626	R351L	probably damaging	Het
Axin2	T	C	11: 108,939,397	S348P	possibly damaging	Het
BC030499	T	C	11: 78,291,681		probably benign	Het
Bfsp1	A	C	2: 143,827,643		probably null	Het
Brd1	A	G	15: 88,730,383	V103A	probably benign	Het
Ccdc13	C	A	9: 121,813,481	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,173,761	K577R	probably damaging	Het
Csmd2	G	T	4: 128,496,029	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,629,523	M484K	probably benign	Het
Defb3	T	A	8: 19,293,407	L12Q	probably null	Het
Defb7	G	T	8: 19,495,170		probably null	Het
Dhx35	T	A	2: 158,840,620	M491K	probably damaging	Het
Dnah17	T	C	11: 118,074,434	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,679	E853D	probably benign	Het
Dner	C	A	1: 84,583,053	A23S	probably benign	Het
Dock5	A	C	14: 67,819,641	S539A	probably benign	Het
Dsg2	T	A	18: 20,583,042	F317I	probably benign	Het
Enox1	A	T	14: 77,699,198	I539F	possibly damaging	Het
Eogt	G	A	6: 97,135,284		probably benign	Het
Fbxo22	A	G	9: 55,223,346	T300A	probably benign	Het
Fes	T	C	7: 80,384,005	D166G	probably damaging	Het
Fn1	A	G	1: 71,609,653	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,540,495		probably benign	Het
Foxh1	T	C	15: 76,669,010	H168R	probably benign	Het
Galnt14	T	G	17: 73,574,984		probably benign	Het
Gdf6	A	G	4: 9,844,482	D2G	probably damaging	Het
Gp6	C	A	7: 4,370,184	A247S	probably benign	Het
Gp6	G	C	7: 4,371,627	P232A	probably benign	Het
Grin2c	A	G	11: 115,251,134	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,670,448	T198A	possibly damaging	Het
Helz	T	C	11: 107,672,948		probably benign	Het
Htr1d	A	G	4: 136,443,000	E180G	probably benign	Het
Igsf10	A	G	3: 59,326,008	V1768A	probably benign	Het
Ints10	A	T	8: 68,827,302	T694S	probably damaging	Het
Krt81	C	A	15: 101,463,627	R24L	possibly damaging	Het
Lipc	T	A	9: 70,820,427	Y131F	probably damaging	Het
Litaf	G	T	16: 10,966,511	T45K	probably damaging	Het
Lmo7	A	T	14: 101,887,193	R363*	probably null	Het
Lrrc37a	A	T	11: 103,500,913	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,358,276	A943T	probably damaging	Het
Mtor	A	G	4: 148,480,923	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,351,447	Y384*	probably null	Het
Nat2	C	T	8: 67,501,726	Q163*	probably null	Het
Nell2	A	G	15: 95,431,681		probably benign	Het
Nphp3	C	T	9: 104,037,348	H102Y	possibly damaging	Het
Olfr1383	A	T	11: 49,524,134	H137L	possibly damaging	Het
Olfr1442	C	T	19: 12,674,757	T184I	probably benign	Het
Olfr686	A	T	7: 105,203,659	M228K	probably benign	Het
Olr1	T	C	6: 129,488,906	S46G	possibly damaging	Het
Parg	C	A	14: 32,202,433	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,195,715		probably benign	Het
Ripk4	A	G	16: 97,743,561	C629R	probably benign	Het
Rnf145	A	G	11: 44,564,151	T620A	probably benign	Het
Samd9l	T	G	6: 3,376,031	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,327,951		probably benign	Het
Slc19a1	T	C	10: 77,042,165	I178T	probably benign	Het
Slco1b2	A	T	6: 141,671,111	Y390F	probably benign	Het
Speg	A	G	1: 75,385,032	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,264,837		probably benign	Het
Tmem131l	G	A	3: 83,940,587	Q324*	probably null	Het
Trp53	T	G	11: 69,588,679	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,253,272	M618K	probably damaging	Het
Trrap	C	A	5: 144,822,761	Y2250*	probably null	Het
Ttc3	A	G	16: 94,385,322		probably benign	Het
Ubtfl1	T	G	9: 18,409,787	S204A	probably benign	Het
Uck2	A	T	1: 167,227,771	Y203N	probably damaging	Het
Utrn	A	T	10: 12,686,465	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,894,184	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,522,120	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,471,635	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,843,125	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,243,604	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,136,891	S17C	probably damaging	Het
Zfp811	C	T	17: 32,797,764	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,814,863		probably benign	Het

Other mutations in Trf

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00156:Trf	APN	9	103220957	missense	probably benign	0.00
IGL00424:Trf	APN	9	103226936	missense	probably damaging	1.00
IGL00793:Trf	APN	9	103226143	unclassified	probably benign
IGL01139:Trf	APN	9	103223604	missense	probably damaging	1.00
IGL01658:Trf	APN	9	103226856	missense	probably benign	0.04
IGL02671:Trf	APN	9	103211982	missense	probably benign	0.01
IGL02996:Trf	APN	9	103220903	missense	probably benign	0.01
R0060:Trf	UTSW	9	103220922	missense	probably benign	0.11
R0060:Trf	UTSW	9	103220922	missense	probably benign	0.11
R0096:Trf	UTSW	9	103222159	missense	probably damaging	1.00
R0096:Trf	UTSW	9	103222159	missense	probably damaging	1.00
R0234:Trf	UTSW	9	103226879	splice site	probably null
R0234:Trf	UTSW	9	103226879	splice site	probably null
R0411:Trf	UTSW	9	103217501	missense	probably damaging	1.00
R0456:Trf	UTSW	9	103226903	missense	probably damaging	1.00
R0601:Trf	UTSW	9	103222933	critical splice donor site	probably null
R1419:Trf	UTSW	9	103226108	missense	probably damaging	1.00
R1606:Trf	UTSW	9	103225136	splice site	probably null
R3943:Trf	UTSW	9	103222952	missense	probably benign	0.00
R4431:Trf	UTSW	9	103211876	missense	possibly damaging	0.81
R4609:Trf	UTSW	9	103211985	missense	possibly damaging	0.81
R4658:Trf	UTSW	9	103223608	missense	probably damaging	1.00
R4830:Trf	UTSW	9	103227915	missense	probably damaging	0.98
R4925:Trf	UTSW	9	103219246	missense	probably benign	0.00
R4929:Trf	UTSW	9	103227875	intron	probably benign
R4931:Trf	UTSW	9	103228048	missense	probably damaging	0.99
R5139:Trf	UTSW	9	103222934	critical splice donor site	probably null
R5272:Trf	UTSW	9	103227978	missense	probably damaging	1.00
R5692:Trf	UTSW	9	103226125	missense	possibly damaging	0.87
R6227:Trf	UTSW	9	103230305	start gained	probably benign
R6365:Trf	UTSW	9	103222128	missense	possibly damaging	0.70
R6928:Trf	UTSW	9	103222108	missense	possibly damaging	0.56
R7127:Trf	UTSW	9	103225127	missense	probably benign
R7231:Trf	UTSW	9	103225148	missense	probably damaging	1.00
R7648:Trf	UTSW	9	103227969	missense	probably benign	0.01
R8088:Trf	UTSW	9	103211931	missense	probably damaging	1.00
R8095:Trf	UTSW	9	103210536	missense	probably damaging	1.00
R8317:Trf	UTSW	9	103217516	missense	probably damaging	1.00
R8443:Trf	UTSW	9	103217476	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TCGGCTACCTGCCTACAGAATGAG -3'
(R):5'- GGTCTCTGAATGACAAACCCCACTG -3'

Sequencing Primer
(F):5'- CCTGCCTACAGAATGAGATTTAAC -3'
(R):5'- gacccttcccccctacc -3'

Posted On

2013-04-11