Mutagenetix > Incidental Mutation

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

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0112 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

103086075-103107485 bp(-) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 103104155 bp (GRCm39)

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]

AlphaFold

Q921I1

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: 35,244,815 (GRCm39)	Y179F	probably benign	Het
Abcd4	A	G	12: 84,659,673 (GRCm39)		probably benign	Het
Abhd12b	C	T	12: 70,227,791 (GRCm39)	T191M	probably benign	Het
Adcy5	A	G	16: 34,976,548 (GRCm39)	E27G	possibly damaging	Het
Adgb	G	A	10: 10,282,902 (GRCm39)		probably benign	Het
Afdn	T	C	17: 14,104,899 (GRCm39)	S1186P	probably damaging	Het
Atf6b	G	T	17: 34,870,600 (GRCm39)	R351L	probably damaging	Het
Axin2	T	C	11: 108,830,223 (GRCm39)	S348P	possibly damaging	Het
Bfsp1	A	C	2: 143,669,563 (GRCm39)		probably null	Het
Brd1	A	G	15: 88,614,586 (GRCm39)	V103A	probably benign	Het
Ccdc13	C	A	9: 121,642,547 (GRCm39)	K392N	probably damaging	Het
Ccdc18	A	G	5: 108,321,627 (GRCm39)	K577R	probably damaging	Het
Csmd2	G	T	4: 128,389,822 (GRCm39)	G2186C	probably damaging	Het
Cyp2j5	A	T	4: 96,517,760 (GRCm39)	M484K	probably benign	Het
Defb3	T	A	8: 19,343,423 (GRCm39)	L12Q	probably null	Het
Defb7	G	T	8: 19,545,186 (GRCm39)		probably null	Het
Dhx35	T	A	2: 158,682,540 (GRCm39)	M491K	probably damaging	Het
Dnah17	T	C	11: 117,965,260 (GRCm39)	S2261G	possibly damaging	Het
Dnah5	A	C	15: 28,263,825 (GRCm39)	E853D	probably benign	Het
Dner	C	A	1: 84,560,774 (GRCm39)	A23S	probably benign	Het
Dock5	A	C	14: 68,057,090 (GRCm39)	S539A	probably benign	Het
Dsg2	T	A	18: 20,716,099 (GRCm39)	F317I	probably benign	Het
Enox1	A	T	14: 77,936,638 (GRCm39)	I539F	possibly damaging	Het
Eogt	G	A	6: 97,112,245 (GRCm39)		probably benign	Het
Fbxo22	A	G	9: 55,130,630 (GRCm39)	T300A	probably benign	Het
Fes	T	C	7: 80,033,753 (GRCm39)	D166G	probably damaging	Het
Fn1	A	G	1: 71,648,812 (GRCm39)	S1366P	probably damaging	Het
Fndc3a	A	T	14: 72,777,935 (GRCm39)		probably benign	Het
Foxh1	T	C	15: 76,553,210 (GRCm39)	H168R	probably benign	Het
Galnt14	T	G	17: 73,881,979 (GRCm39)		probably benign	Het
Gdf6	A	G	4: 9,844,482 (GRCm39)	D2G	probably damaging	Het
Gp6	C	A	7: 4,373,183 (GRCm39)	A247S	probably benign	Het
Gp6	G	C	7: 4,374,626 (GRCm39)	P232A	probably benign	Het
Grin2c	A	G	11: 115,141,960 (GRCm39)	Y820H	probably damaging	Het
Gtf2h4	T	C	17: 35,981,340 (GRCm39)	T198A	possibly damaging	Het
Helz	T	C	11: 107,563,774 (GRCm39)		probably benign	Het
Htr1d	A	G	4: 136,170,311 (GRCm39)	E180G	probably benign	Het
Igsf10	A	G	3: 59,233,429 (GRCm39)	V1768A	probably benign	Het
Ints10	A	T	8: 69,279,954 (GRCm39)	T694S	probably damaging	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
Lipc	T	A	9: 70,727,709 (GRCm39)	Y131F	probably damaging	Het
Litaf	G	T	16: 10,784,375 (GRCm39)	T45K	probably damaging	Het
Lmo7	A	T	14: 102,124,629 (GRCm39)	R363*	probably null	Het
Lrrc37a	A	T	11: 103,391,739 (GRCm39)	Y1229N	probably benign	Het
Man2a2	C	T	7: 80,008,024 (GRCm39)	A943T	probably damaging	Het
Mtor	A	G	4: 148,565,380 (GRCm39)	Y1030C	probably damaging	Het
Naalad2	G	T	9: 18,262,743 (GRCm39)	Y384*	probably null	Het
Nat2	C	T	8: 67,954,378 (GRCm39)	Q163*	probably null	Het
Nell2	A	G	15: 95,329,562 (GRCm39)		probably benign	Het
Nphp3	C	T	9: 103,914,547 (GRCm39)	H102Y	possibly damaging	Het
Olr1	T	C	6: 129,465,869 (GRCm39)	S46G	possibly damaging	Het
Or2y13	A	T	11: 49,414,961 (GRCm39)	H137L	possibly damaging	Het
Or52x1	A	T	7: 104,852,866 (GRCm39)	M228K	probably benign	Het
Or5b94	C	T	19: 12,652,121 (GRCm39)	T184I	probably benign	Het
Parg	C	A	14: 31,924,390 (GRCm39)	A63E	probably damaging	Het
Pik3cg	A	G	12: 32,245,714 (GRCm39)		probably benign	Het
Ripk4	A	G	16: 97,544,761 (GRCm39)	C629R	probably benign	Het
Rnf145	A	G	11: 44,454,978 (GRCm39)	T620A	probably benign	Het
Rskr	T	C	11: 78,182,507 (GRCm39)		probably benign	Het
Samd9l	T	G	6: 3,376,031 (GRCm39)	D410A	possibly damaging	Het
Serpinb9f	A	T	13: 33,511,934 (GRCm39)		probably benign	Het
Slc19a1	T	C	10: 76,877,999 (GRCm39)	I178T	probably benign	Het
Slco1b2	A	T	6: 141,616,837 (GRCm39)	Y390F	probably benign	Het
Speg	A	G	1: 75,361,676 (GRCm39)	E230G	possibly damaging	Het
Tbc1d9	C	A	8: 83,991,466 (GRCm39)		probably benign	Het
Tmem131l	G	A	3: 83,847,894 (GRCm39)	Q324*	probably null	Het
Trp53	T	G	11: 69,479,505 (GRCm39)	Y202D	probably damaging	Het
Trpv1	T	A	11: 73,144,098 (GRCm39)	M618K	probably damaging	Het
Trrap	C	A	5: 144,759,571 (GRCm39)	Y2250*	probably null	Het
Ttc3	A	G	16: 94,186,181 (GRCm39)		probably benign	Het
Ubtfl1	T	G	9: 18,321,083 (GRCm39)	S204A	probably benign	Het
Uck2	A	T	1: 167,055,340 (GRCm39)	Y203N	probably damaging	Het
Utrn	A	T	10: 12,562,209 (GRCm39)	L1280*	probably null	Het
Vmn1r178	A	T	7: 23,593,609 (GRCm39)	H146L	possibly damaging	Het
Vmn2r100	C	A	17: 19,742,382 (GRCm39)	P252Q	possibly damaging	Het
Vmn2r108	T	C	17: 20,691,897 (GRCm39)	M209V	probably benign	Het
Vmn2r9	G	A	5: 108,990,991 (GRCm39)	T790I	probably damaging	Het
Vmn2r94	C	A	17: 18,463,866 (GRCm39)	R808L	probably benign	Het
Zbtb7c	A	T	18: 76,269,962 (GRCm39)	S17C	probably damaging	Het
Zfp811	C	T	17: 33,016,738 (GRCm39)	R434Q	probably damaging	Het
Zkscan6	A	T	11: 65,705,689 (GRCm39)		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
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
R7231:Trf	UTSW	9	103,102,347 (GRCm39)	missense	probably damaging	1.00
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'- TCGGCTACCTGCCTACAGAATGAG -3'
(R):5'- GGTCTCTGAATGACAAACCCCACTG -3'

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

Posted On

2013-04-11