Mutagenetix > Incidental Mutation

Incidental Mutation 'R4925:Trf'

378969

Institutional Source

Beutler Lab

Gene Symbol

Trf

Ensembl Gene

ENSMUSG00000032554

Gene Name

transferrin

Synonyms

HP, Tfn

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4925 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

103204001-103230444 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 103219246 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 25 (N25S)

Gene Model

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

AlphaFold

Q921I1

Predicted Effect

probably benign
Transcript: ENSMUST00000035158
AA Change: N434S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: N434S

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
AA Change: N434S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: N434S

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
AA Change: N420S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: N420S

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: ENSMUST00000168142
AA Change: N25S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000128609
Gene: ENSMUSG00000032554
AA Change: N25S

Domain	Start	End	E-Value	Type
TR_FER	2	249	1.87e-115	SMART

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: 98.9%
3x: 98.0%
10x: 95.0%
20x: 87.7%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	T	A	11: 58,425,714	C173*	probably null	Het
2210407C18Rik	T	A	11: 58,610,687	T157S	probably damaging	Het
3425401B19Rik	T	A	14: 32,663,180	H276L	possibly damaging	Het
4930430A15Rik	T	C	2: 111,218,616	K273E	probably benign	Het
Adam21	T	G	12: 81,560,389	M200L	probably benign	Het
Adamts3	A	T	5: 89,684,323	S974T	probably benign	Het
Adamtsl3	T	A	7: 82,602,299		probably null	Het
Atp8b2	A	G	3: 89,946,623		probably null	Het
Brd8	T	C	18: 34,607,335	T552A	probably benign	Het
Btaf1	A	G	19: 37,011,333	S1826G	probably benign	Het
C330027C09Rik	T	C	16: 49,016,363		probably null	Het
Ccdc163	A	G	4: 116,711,331	E77G	possibly damaging	Het
Ces2g	A	G	8: 104,964,894	R194G	probably benign	Het
Cln8	A	G	8: 14,895,004	H106R	possibly damaging	Het
Col12a1	T	G	9: 79,674,795	L1391F	probably damaging	Het
Col16a1	G	A	4: 130,054,176	D230N	probably damaging	Het
Crhbp	C	A	13: 95,443,810	G87V	possibly damaging	Het
Cyp3a16	C	T	5: 145,452,834	M240I	probably benign	Het
Cyp4a14	A	T	4: 115,495,936	W60R	possibly damaging	Het
Fam47e	A	G	5: 92,585,290	Y304C	probably damaging	Het
Fgfbp1	A	T	5: 43,979,292	D219E	probably damaging	Het
Fgfr2	A	T	7: 130,185,272	Y485N	probably damaging	Het
Fhdc1	C	T	3: 84,453,533	V363M	probably damaging	Het
Foxb1	T	A	9: 69,760,155	E31V	probably damaging	Het
Galnt9	T	C	5: 110,544,739	V13A	possibly damaging	Het
Ghrl	T	C	6: 113,716,257	D77G	probably damaging	Het
Gm21731	A	G	13: 120,240,848	Y60C	probably damaging	Het
Gpr85	A	G	6: 13,835,978	V309A	probably benign	Het
Greb1	T	C	12: 16,681,471	Y1622C	probably damaging	Het
Greb1l	T	A	18: 10,547,447	M1555K	possibly damaging	Het
Grin2a	T	A	16: 9,669,823	N404Y	probably damaging	Het
Gtpbp1	A	C	15: 79,715,968	I399L	probably benign	Het
Hectd4	T	C	5: 121,322,690	S911P	possibly damaging	Het
Igkc	A	T	6: 70,726,536	K34*	probably null	Het
Igkv4-80	A	C	6: 69,016,665	S81A	probably benign	Het
Iqgap1	T	A	7: 80,765,317	I149F	probably damaging	Het
Lama1	C	T	17: 67,794,314	A1934V	probably benign	Het
Lrp1	C	A	10: 127,575,075	E1415*	probably null	Het
Macf1	A	C	4: 123,526,652	C270G	probably benign	Het
Marveld3	A	G	8: 109,948,311	V291A	probably benign	Het
Med23	T	C	10: 24,910,747	F917S	probably damaging	Het
Mfng	C	T	15: 78,764,388	R163H	probably benign	Het
Ncan	A	T	8: 70,109,954	D551E	probably benign	Het
Olfr1269	T	A	2: 90,118,777	T274S	probably damaging	Het
Olfr382	A	T	11: 73,517,172	I9N	possibly damaging	Het
Olfr649	T	C	7: 104,190,180	Y9C	possibly damaging	Het
Otx1	C	A	11: 21,997,037	A91S	probably damaging	Het
Pla2g12a	T	C	3: 129,878,818	W34R	probably damaging	Het
Plekha7	A	G	7: 116,158,128	F529S	probably damaging	Het
Ppl	T	A	16: 5,104,982	D215V	probably damaging	Het
Pramef20	A	T	4: 144,377,932	M1K	probably null	Het
Prdm1	T	A	10: 44,440,169	Y690F	probably damaging	Het
Prkcd	T	A	14: 30,607,613	D124V	probably damaging	Het
Ptprc	C	A	1: 138,099,497	D538Y	probably benign	Het
Rasl10b	G	A	11: 83,412,679	V21M	probably damaging	Het
Rgsl1	T	A	1: 153,812,277	Y657F	probably benign	Het
Rrn3	T	C	16: 13,799,972	C360R	probably damaging	Het
Scarb1	T	C	5: 125,297,299	T257A	probably damaging	Het
Serpinb2	T	A	1: 107,515,489	M6K	probably benign	Het
Slco4a1	T	C	2: 180,472,056	Y429H	probably benign	Het
St13	G	C	15: 81,399,585	R4G	probably benign	Het
Taar3	T	A	10: 23,950,543	F329Y	probably damaging	Het
Tardbp	A	T	4: 148,618,651	N285K	probably benign	Het
Tnni2	A	T	7: 142,442,693	E4V	probably benign	Het
Tnpo2	A	T	8: 85,050,025	I454F	probably damaging	Het
Tpr	T	G	1: 150,432,565	H1690Q	probably benign	Het
Trav18	T	C	14: 53,831,120	S6P	probably benign	Het
Vmn1r59	T	C	7: 5,454,116	N215S	probably benign	Het
Vmn2r2	T	C	3: 64,137,471	M1V	probably null	Het
Wdr64	T	C	1: 175,724,702		probably null	Het
Wdr73	T	C	7: 80,893,195	S222G	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
R0112:Trf	UTSW	9	103226956	unclassified	probably benign
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
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
R8735:Trf	UTSW	9	103210524	missense	probably damaging	0.99
R8854:Trf	UTSW	9	103230330	unclassified	probably benign
R9131:Trf	UTSW	9	103211888	missense	probably damaging	0.99
R9360:Trf	UTSW	9	103217535	critical splice acceptor site	probably null
R9499:Trf	UTSW	9	103222084	missense	probably benign	0.00
R9526:Trf	UTSW	9	103226931	missense	probably damaging	1.00
R9551:Trf	UTSW	9	103222084	missense	probably benign	0.00
R9552:Trf	UTSW	9	103222084	missense	probably benign	0.00
R9710:Trf	UTSW	9	103226018	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GAGTAACCCTGTATCTGAGTCAC -3'
(R):5'- ATGAGTCCCAGAGGTCAACAG -3'

Sequencing Primer
(F):5'- GTAACCCTGTATCTGAGTCACCACAC -3'
(R):5'- GCCAGGTGAACTCTCAACATCTG -3'

Posted On

2016-04-15