Mutagenetix > Incidental Mutation

Incidental Mutation 'R8735:Trf'

662981

Institutional Source

Beutler Lab

Gene Symbol

Trf

Ensembl Gene

ENSMUSG00000032554

Gene Name

transferrin

Synonyms

HP, Tfn

MMRRC Submission

068583-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8735 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

103086075-103107485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 103087723 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 677 (V677D)

Ref Sequence

ENSEMBL: ENSMUSP00000035158 (fasta)

Gene Model

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

AlphaFold

Q921I1

Predicted Effect

probably damaging
Transcript: ENSMUST00000035158
AA Change: V677D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: V677D

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: V677D

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: V677D

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: ENSMUST00000166836
AA Change: V663D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: V663D

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

SMART Domains

Protein: ENSMUSP00000128609
Gene: ENSMUSG00000032554

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

99% (76/77)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430550D23Rik	A	G	2: 155,845,731 (GRCm39)	F9S	unknown	Het
Abhd10	A	G	16: 45,557,997 (GRCm39)	F101L	probably damaging	Het
Acp2	A	G	2: 91,034,651 (GRCm39)	T93A	probably benign	Het
Adamts9	C	T	6: 92,837,048 (GRCm39)		probably benign	Het
Aknad1	T	A	3: 108,682,615 (GRCm39)		probably benign	Het
Ank3	A	T	10: 69,822,785 (GRCm39)	T485S	probably benign	Het
Caly	G	A	7: 139,652,503 (GRCm39)	R82C	probably damaging	Het
Cfhr2	A	G	1: 139,786,343 (GRCm39)	L8P	probably damaging	Het
Cpeb2	T	A	5: 43,438,775 (GRCm39)	L869*	probably null	Het
Cxxc1	A	G	18: 74,350,331 (GRCm39)	K33E	possibly damaging	Het
Cyp17a1	T	C	19: 46,659,533 (GRCm39)		probably null	Het
Cyp4a30b	G	A	4: 115,309,976 (GRCm39)	W59*	probably null	Het
Dennd4b	T	C	3: 90,185,172 (GRCm39)	V1204A	probably damaging	Het
Dpyd	T	A	3: 118,935,565 (GRCm39)	D663E	possibly damaging	Het
Esrrg	A	T	1: 187,933,205 (GRCm39)		probably benign	Het
Exoc2	A	C	13: 31,090,822 (GRCm39)	L261V	probably damaging	Het
Exosc9	T	C	3: 36,609,662 (GRCm39)	L185S	probably damaging	Het
Gcnt3	T	C	9: 69,941,728 (GRCm39)	K280R	probably benign	Het
Ighv1-64	A	T	12: 115,471,217 (GRCm39)	M100K	probably benign	Het
Impdh2	G	A	9: 108,441,978 (GRCm39)		probably null	Het
Itsn2	T	A	12: 4,721,474 (GRCm39)	I1068K	probably damaging	Het
Kif5c	T	C	2: 49,584,783 (GRCm39)	C169R	probably damaging	Het
Kndc1	A	G	7: 139,490,130 (GRCm39)	S211G	probably benign	Het
Lama2	T	A	10: 27,066,530 (GRCm39)	E1117V	probably damaging	Het
Lgals4	C	T	7: 28,540,921 (GRCm39)	R282C	probably damaging	Het
Lsg1	T	A	16: 30,399,865 (GRCm39)		probably null	Het
Mab21l4	C	T	1: 93,082,208 (GRCm39)		probably null	Het
Msh3	A	G	13: 92,411,374 (GRCm39)	S608P	possibly damaging	Het
Mslnl	T	A	17: 25,964,062 (GRCm39)	F464I	probably benign	Het
Mycbp2	T	A	14: 103,460,586 (GRCm39)	K1493N	probably damaging	Het
Myo15a	A	T	11: 60,401,679 (GRCm39)		probably null	Het
Myo1b	A	T	1: 51,794,896 (GRCm39)	F1065I	probably benign	Het
Nf1	A	G	11: 79,345,136 (GRCm39)		probably benign	Het
Nup153	C	A	13: 46,881,027 (GRCm39)		probably benign	Het
Or4f4-ps1	T	A	2: 111,330,497 (GRCm39)	I300K	probably damaging	Het
Or5b97	A	G	19: 12,878,274 (GRCm39)	V290A	possibly damaging	Het
Osbpl7	A	G	11: 96,943,194 (GRCm39)	T149A	probably benign	Het
Parp1	A	G	1: 180,396,690 (GRCm39)	D31G	probably benign	Het
Pcdha6	T	A	18: 37,101,203 (GRCm39)	V132E	possibly damaging	Het
Pcdhb8	T	A	18: 37,489,975 (GRCm39)	L551Q	possibly damaging	Het
Pcsk9	T	A	4: 106,311,808 (GRCm39)	T190S	probably damaging	Het
Pdgfrb	A	T	18: 61,197,049 (GRCm39)	T162S	probably benign	Het
Pi4ka	C	T	16: 17,136,234 (GRCm39)	R908Q		Het
Pnpla8	A	G	12: 44,330,222 (GRCm39)	E258G	probably benign	Het
Prrc2c	A	T	1: 162,537,127 (GRCm39)	S643T	unknown	Het
Rnf20	T	G	4: 49,655,964 (GRCm39)	I970S	possibly damaging	Het
Robo2	A	T	16: 73,755,247 (GRCm39)	V758D	probably damaging	Het
Robo4	G	A	9: 37,319,577 (GRCm39)	S609N	possibly damaging	Het
Rrbp1	G	A	2: 143,830,920 (GRCm39)	Q416*	probably null	Het
Rsf1	GCG	GCGACGGCGACG	7: 97,229,114 (GRCm39)		probably benign	Het
Ryr2	C	A	13: 11,701,833 (GRCm39)	E2941D	probably damaging	Het
Scd2	G	T	19: 44,289,743 (GRCm39)	C246F	probably benign	Het
Sh3rf1	G	A	8: 61,825,687 (GRCm39)	V561I	probably benign	Het
Slc4a4	T	A	5: 89,280,301 (GRCm39)	D366E	probably damaging	Het
Slfn14	T	G	11: 83,174,715 (GRCm39)	Q92P	probably damaging	Het
Slfn4	A	T	11: 83,077,770 (GRCm39)	Y186F	probably damaging	Het
Smpd4	T	C	16: 17,453,410 (GRCm39)	L309P	possibly damaging	Het
Smyd3	G	T	1: 178,920,482 (GRCm39)	N217K	probably benign	Het
Spen	T	C	4: 141,197,129 (GRCm39)	T3547A	probably benign	Het
Suclg1	A	T	6: 73,253,729 (GRCm39)	I126F	unknown	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tmprss15	A	T	16: 78,798,702 (GRCm39)	I660N	possibly damaging	Het
Trim36	T	C	18: 46,302,452 (GRCm39)	N532S	probably benign	Het
Trim37	T	C	11: 87,037,885 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,570,454 (GRCm39)	N26813S	probably benign	Het
Vmn1r199	T	A	13: 22,567,537 (GRCm39)	V277D	probably damaging	Het
Wdfy3	T	C	5: 102,077,951 (GRCm39)	D873G	probably benign	Het
Wdr27	T	C	17: 15,103,929 (GRCm39)	T726A	probably damaging	Het
Wdr97	T	C	15: 76,240,775 (GRCm39)	Y488H		Het
Wdtc1	A	T	4: 133,031,511 (GRCm39)	C236*	probably null	Het
Wnk4	A	C	11: 101,167,092 (GRCm39)	S1083R	unknown	Het
Wwc1	A	T	11: 35,774,234 (GRCm39)	I342N	probably damaging	Het
Zbtb40	A	G	4: 136,725,957 (GRCm39)	L534P	probably damaging	Het
Zfp62	T	C	11: 49,108,227 (GRCm39)	C773R	probably damaging	Het
Zfp709	T	A	8: 72,643,027 (GRCm39)	I152N	probably benign	Het
Zfp738	T	C	13: 67,819,550 (GRCm39)	Y147C	probably damaging	Het
Zscan18	A	C	7: 12,503,625 (GRCm39)	S645A	probably benign	Het
Zw10	A	G	9: 48,988,861 (GRCm39)	Y709C	probably damaging	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
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
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'- ATGTGCATATAACCCACGTGG -3'
(R):5'- ACCTTTCAGTTTCCTGCAGG -3'

Sequencing Primer
(F):5'- CCCACGTGGTTGTATATGCTAG -3'
(R):5'- CAGGTGTTTCCAGTCCGAGACATAG -3'

Posted On

2021-03-08