Mutagenetix > Incidental Mutation

Incidental Mutation 'R9131:Trf'

693645

Institutional Source

Beutler Lab

Gene Symbol

Trf

Ensembl Gene

ENSMUSG00000032554

Gene Name

transferrin

Synonyms

HP, Tfn

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9131 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

103086075-103107485 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 103089087 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Aspartic acid at position 600 (A600D)

Ref Sequence

ENSEMBL: ENSMUSP00000035158 (fasta)

Gene Model

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

AlphaFold

Q921I1

Predicted Effect

probably damaging
Transcript: ENSMUST00000035158
AA Change: A600D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000035158
Gene: ENSMUSG00000032554
AA Change: A600D

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: A600D

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000108264
Gene: ENSMUSG00000032554
AA Change: A600D

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: 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

possibly damaging
Transcript: ENSMUST00000166836
AA Change: A586D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: A586D

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

SMART Domains

Protein: ENSMUSP00000128609
Gene: ENSMUSG00000032554
AA Change: A186D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000170904
AA Change: A239D

PolyPhen 2 Score 0.895 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128390
Gene: ENSMUSG00000032554
AA Change: A239D

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

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: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ackr1	T	A	1: 173,160,075 (GRCm39)	Y148F	possibly damaging	Het
Adamtsl3	A	G	7: 82,244,722 (GRCm39)	T1393A	probably benign	Het
Adgrf4	G	T	17: 42,978,258 (GRCm39)	Q362K	probably benign	Het
Akr1d1	A	G	6: 37,531,451 (GRCm39)	K163R	probably benign	Het
Arhgap42	A	G	9: 9,011,364 (GRCm39)	L474P	probably damaging	Het
Arhgef18	G	A	8: 3,487,007 (GRCm39)	R242Q	possibly damaging	Het
Asah1	A	G	8: 41,807,049 (GRCm39)		probably null	Het
Atm	A	T	9: 53,445,044 (GRCm39)	I34N	probably benign	Het
Brms1l	A	G	12: 55,906,913 (GRCm39)	E160G	possibly damaging	Het
Camk2a	C	T	18: 61,076,327 (GRCm39)	H102Y	unknown	Het
Cd300lb	A	G	11: 114,819,134 (GRCm39)	V165A	probably damaging	Het
Cela1	G	A	15: 100,579,038 (GRCm39)	R207C	probably benign	Het
Chd7	T	C	4: 8,785,642 (GRCm39)	S649P		Het
Cilk1	A	T	9: 78,074,230 (GRCm39)	S551C	possibly damaging	Het
Clic3	A	G	2: 25,348,325 (GRCm39)	Q130R	probably benign	Het
Clns1a	G	A	7: 97,363,125 (GRCm39)	G166R	probably damaging	Het
Cngb1	A	T	8: 95,979,893 (GRCm39)	H1002Q	probably benign	Het
Cnnm1	C	A	19: 43,429,839 (GRCm39)	A319E	probably benign	Het
Cntnap5b	C	T	1: 99,978,368 (GRCm39)	T128I	probably benign	Het
Csf3r	G	A	4: 125,923,813 (GRCm39)	D108N	probably benign	Het
Ctsc	G	A	7: 87,959,016 (GRCm39)	W432*	probably null	Het
Dapk1	G	A	13: 60,909,208 (GRCm39)	G1274R	probably damaging	Het
Dennd2c	C	A	3: 103,065,031 (GRCm39)	P718Q	probably damaging	Het
Dmxl1	C	G	18: 50,072,639 (GRCm39)	N2744K	probably damaging	Het
Dnah7b	C	T	1: 46,266,180 (GRCm39)	R2250C	probably damaging	Het
Dnmt3a	A	T	12: 3,916,136 (GRCm39)	Q107L	probably benign	Het
Eml2	A	G	7: 18,918,751 (GRCm39)	D67G		Het
Eml5	A	T	12: 98,825,099 (GRCm39)	V706E	probably damaging	Het
Eps8l1	A	G	7: 4,480,573 (GRCm39)	D509G		Het
Farsb	T	C	1: 78,459,951 (GRCm39)	K43E	probably benign	Het
Fbxw20	A	G	9: 109,052,514 (GRCm39)	F273S	probably damaging	Het
Fig4	A	T	10: 41,141,407 (GRCm39)	F284Y	possibly damaging	Het
Fsd1l	C	A	4: 53,694,756 (GRCm39)	N403K	probably damaging	Het
Fsip2	A	T	2: 82,813,170 (GRCm39)	H3163L	probably benign	Het
Gm38119	C	A	3: 92,645,403 (GRCm39)	G64*	probably null	Het
Gpr18	A	G	14: 122,149,173 (GRCm39)	V284A	probably benign	Het
Hacd3	A	G	9: 64,908,286 (GRCm39)	V170A	probably damaging	Het
Hps3	T	C	3: 20,083,350 (GRCm39)	E281G	probably damaging	Het
Ighv12-3	A	C	12: 114,330,546 (GRCm39)	V10G	probably benign	Het
Lrp1b	G	A	2: 40,589,590 (GRCm39)	R3862*	probably null	Het
Ltbp4	A	G	7: 27,036,976 (GRCm39)	L6P	unknown	Het
Ly6h	T	A	15: 75,437,522 (GRCm39)	T53S	probably damaging	Het
Ly6i	A	G	15: 74,855,006 (GRCm39)		probably benign	Het
Mat2a	G	A	6: 72,413,227 (GRCm39)	R168C	probably damaging	Het
Mdn1	T	A	4: 32,762,275 (GRCm39)	D5066E	possibly damaging	Het
Med23	T	A	10: 24,780,279 (GRCm39)	F976I		Het
Muc5ac	T	C	7: 141,363,529 (GRCm39)	I2280T	unknown	Het
Mylk	G	T	16: 34,776,835 (GRCm39)	C1336F	probably benign	Het
Myo9a	G	C	9: 59,768,772 (GRCm39)	R918P	probably damaging	Het
Naglu	T	A	11: 100,967,731 (GRCm39)	D560E	probably damaging	Het
Nrg2	C	T	18: 36,157,396 (GRCm39)	V430M	probably damaging	Het
Oit3	T	C	10: 59,271,751 (GRCm39)	N202S	probably benign	Het
Or13a1	A	G	6: 116,470,881 (GRCm39)	T104A	probably benign	Het
Or1e29	A	T	11: 73,668,150 (GRCm39)	M1K	probably null	Het
Or52r1	T	C	7: 102,537,186 (GRCm39)	H58R	probably benign	Het
Or5b101	T	A	19: 13,005,360 (GRCm39)	Y111F	probably benign	Het
Or6c63-ps1	C	A	10: 128,899,097 (GRCm39)	V260F	probably damaging	Het
Otog	T	A	7: 45,952,597 (GRCm39)	C423*	probably null	Het
Pcolce	T	A	5: 137,603,770 (GRCm39)	T401S	probably benign	Het
Pcsk2	T	C	2: 143,655,583 (GRCm39)	M589T	possibly damaging	Het
Pik3r5	T	C	11: 68,383,099 (GRCm39)	L306P	possibly damaging	Het
Pikfyve	T	A	1: 65,285,239 (GRCm39)	M826K	probably damaging	Het
Ppp1r9a	A	G	6: 5,134,106 (GRCm39)	R898G	possibly damaging	Het
Prl7b1	A	G	13: 27,790,968 (GRCm39)	V39A	probably benign	Het
Pros1	T	A	16: 62,748,397 (GRCm39)	D623E	probably damaging	Het
Psg16	A	G	7: 16,832,024 (GRCm39)	D320G	probably benign	Het
Ptpre	T	A	7: 135,280,875 (GRCm39)	H612Q	probably damaging	Het
Rbm34	A	G	8: 127,679,928 (GRCm39)	S283P	probably damaging	Het
Rc3h2	A	T	2: 37,304,702 (GRCm39)	N19K	possibly damaging	Het
Sacm1l	T	A	9: 123,381,827 (GRCm39)	L143*	probably null	Het
Septin9	T	A	11: 117,181,460 (GRCm39)	S105T	probably damaging	Het
Shprh	T	C	10: 11,038,589 (GRCm39)	M448T	possibly damaging	Het
Slc6a20a	A	C	9: 123,466,063 (GRCm39)	*593E	probably null	Het
Smarcc1	A	G	9: 109,964,710 (GRCm39)	D89G	possibly damaging	Het
Svep1	T	A	4: 58,087,778 (GRCm39)	Y1767F	possibly damaging	Het
Tanc2	T	C	11: 105,689,603 (GRCm39)	V255A	probably benign	Het
Tiam1	A	G	16: 89,657,155 (GRCm39)	S694P	probably damaging	Het
Tmem130	T	C	5: 144,680,529 (GRCm39)	T292A		Het
Tob1	ACAGCAGCAGCAGCAGCAGCAGC	ACAGCAGCAGCAGCAGCAGC	11: 94,105,203 (GRCm39)		probably benign	Het
Tpcn2	A	G	7: 144,814,662 (GRCm39)	Y480H	probably damaging	Het
Ttc16	A	T	2: 32,659,232 (GRCm39)	L346Q	probably damaging	Het
Vars1	A	C	17: 35,223,773 (GRCm39)	K229N	possibly damaging	Het
Vmn1r113	G	T	7: 20,521,342 (GRCm39)	G45C	probably damaging	Het
Vmn1r32	A	G	6: 66,530,020 (GRCm39)	V252A	probably benign	Het
Vmn2r93	A	G	17: 18,546,143 (GRCm39)	T672A	probably damaging	Het
Wdfy4	T	A	14: 32,819,807 (GRCm39)	T1466S		Het
Zcwpw1	T	C	5: 137,809,182 (GRCm39)	Y317H	probably damaging	Het
Zfp169	T	C	13: 48,644,557 (GRCm39)	E190G	unknown	Het
Zfp273	A	T	13: 67,973,685 (GRCm39)	H271L	probably damaging	Het
Zfp764	C	A	7: 127,005,719 (GRCm39)	E20*	probably null	Het
Znfx1	A	T	2: 166,892,298 (GRCm39)	N639K	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
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
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'- GAAAGGAAATGCTCACTCCGG -3'
(R):5'- CATAACCTTAAACATGGGCTTGTG -3'

Sequencing Primer
(F):5'- GGAGCTCCGTTTAACTCCGAATAG -3'
(R):5'- ATACACCTGTGGGTCAGTGACATC -3'

Posted On

2022-01-20