Mutagenetix > Incidental Mutation

Incidental Mutation 'R6545:Harbi1'

521073

Institutional Source

Beutler Lab

Gene Symbol

Harbi1

Ensembl Gene

ENSMUSG00000027243

Gene Name

harbinger transposase derived 1

Synonyms

D230010M03Rik

MMRRC Submission

044671-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R6545 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

91541197-91551890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 91542640 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Aspartic acid at position 34 (Y34D)

Ref Sequence

ENSEMBL: ENSMUSP00000117640 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028678] [ENSMUST00000076803] [ENSMUST00000090608] [ENSMUST00000111322] [ENSMUST00000128140] [ENSMUST00000140183] [ENSMUST00000142692]

AlphaFold

Q8BR93

Predicted Effect

probably benign
Transcript: ENSMUST00000028678

SMART Domains

Protein: ENSMUSP00000028678
Gene: ENSMUSG00000027244

Domain	Start	End	E-Value	Type
Pfam:ATG13	77	195	1.5e-10	PFAM
low complexity region	252	269	N/A	INTRINSIC
low complexity region	423	442	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000076803

SMART Domains

Protein: ENSMUSP00000076081
Gene: ENSMUSG00000027244

Domain	Start	End	E-Value	Type
Pfam:ATG13	17	195	1.1e-35	PFAM
low complexity region	386	405	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000090608
AA Change: Y34D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000088098
Gene: ENSMUSG00000027243
AA Change: Y34D

Domain	Start	End	E-Value	Type
Pfam:Plant_tran	122	309	6.6e-8	PFAM
Pfam:DDE_Tnp_4	148	300	1.7e-40	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111322
AA Change: Y34D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000106954
Gene: ENSMUSG00000027243
AA Change: Y34D

Domain	Start	End	E-Value	Type
Pfam:DDE_Tnp_4	148	226	1.5e-17	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122236

Predicted Effect

probably damaging
Transcript: ENSMUST00000128140
AA Change: Y34D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140183
AA Change: Y34D

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142692
AA Change: Y34D

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000121420
Gene: ENSMUSG00000027243
AA Change: Y34D

Domain	Start	End	E-Value	Type
Pfam:DDE_Tnp_4	148	234	1.1e-17	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.6%

Validation Efficiency

95% (42/44)

Allele List at MGI

Other mutations in this stock

Total: 46 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,348,145 (GRCm39)	A58T	possibly damaging	Het
Ago4	T	A	4: 126,405,811 (GRCm39)	Q366L	probably benign	Het
Card10	C	A	15: 78,661,010 (GRCm39)	G950V	probably damaging	Het
Ceacam1	A	T	7: 25,173,279 (GRCm39)	V303D	probably damaging	Het
Cfap54	C	T	10: 92,672,319 (GRCm39)	R2917H	probably benign	Het
Cit	A	G	5: 115,984,493 (GRCm39)	S22G	probably null	Het
Cog4	A	G	8: 111,607,577 (GRCm39)	E666G	probably damaging	Het
Crocc2	A	G	1: 93,140,659 (GRCm39)	D1103G	probably benign	Het
Cttnbp2	A	T	6: 18,405,278 (GRCm39)		probably null	Het
Dctn3	T	C	4: 41,723,084 (GRCm39)	E16G	probably damaging	Het
Dnah6	A	G	6: 73,021,715 (GRCm39)	S3536P	probably damaging	Het
Eef2	T	A	10: 81,016,948 (GRCm39)	I675N	probably damaging	Het
Gga3	A	G	11: 115,477,995 (GRCm39)	F531S	possibly damaging	Het
Gm19410	A	G	8: 36,257,652 (GRCm39)	R697G	possibly damaging	Het
Gm3173	T	A	14: 15,728,395 (GRCm39)	M18K	possibly damaging	Het
Gm5800	A	T	14: 51,949,419 (GRCm39)	S175R	possibly damaging	Het
Gria2	T	C	3: 80,648,451 (GRCm39)	K95R	probably damaging	Het
Gstm6	A	G	3: 107,849,681 (GRCm39)	I76T	probably damaging	Het
Hectd2	C	A	19: 36,564,778 (GRCm39)	Q20K	probably benign	Het
Inpp5f	C	A	7: 128,296,280 (GRCm39)	A250D	possibly damaging	Het
Irf9	T	C	14: 55,842,684 (GRCm39)	F59L	probably damaging	Het
Itgam	T	A	7: 127,707,044 (GRCm39)	M625K	probably damaging	Het
Kcnh5	C	T	12: 75,054,432 (GRCm39)	R504Q	probably damaging	Het
Lama2	T	C	10: 27,052,793 (GRCm39)	T1389A	probably benign	Het
Lin54	T	A	5: 100,632,996 (GRCm39)		probably null	Het
Mettl23	A	G	11: 116,740,042 (GRCm39)	D171G	possibly damaging	Het
Mgll	A	G	6: 88,802,685 (GRCm39)	N296S	probably benign	Het
Mpv17	T	A	5: 31,302,041 (GRCm39)		probably benign	Het
Myof	A	T	19: 37,930,745 (GRCm39)	M1001K	possibly damaging	Het
Myom1	A	T	17: 71,389,300 (GRCm39)	Q850L	probably benign	Het
Or10ab5	A	T	7: 108,245,662 (GRCm39)	N40K	probably damaging	Het
Pias2	A	G	18: 77,217,781 (GRCm39)	I328V	possibly damaging	Het
Polh	G	A	17: 46,493,685 (GRCm39)	P311S	possibly damaging	Het
Prss34	A	T	17: 25,517,809 (GRCm39)	R61S	probably benign	Het
Rassf2	A	T	2: 131,840,237 (GRCm39)	M280K	probably damaging	Het
Rpsa	A	G	9: 119,959,323 (GRCm39)	H47R	probably benign	Het
Rtp3	A	G	9: 110,815,894 (GRCm39)	V219A	possibly damaging	Het
Smarcc2	T	C	10: 128,319,997 (GRCm39)	I790T	probably benign	Het
Stag3	A	G	5: 138,296,614 (GRCm39)	T491A	possibly damaging	Het
Svil	C	T	18: 5,108,621 (GRCm39)	H2007Y	probably benign	Het
Togaram1	T	G	12: 65,024,981 (GRCm39)	C750G	possibly damaging	Het
Vmn2r13	A	T	5: 109,304,806 (GRCm39)		probably null	Het
Vmn2r4	A	T	3: 64,313,777 (GRCm39)	D401E	possibly damaging	Het
Wdr97	C	T	15: 76,247,578 (GRCm39)	R1585C	probably damaging	Het
Wsb1	A	T	11: 79,141,881 (GRCm39)	D45E	probably damaging	Het
Zfp808	T	A	13: 62,319,709 (GRCm39)	Y313N	probably benign	Het

Other mutations in Harbi1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00474:Harbi1	APN	2	91,542,971 (GRCm39)	missense	probably damaging	1.00
R0670:Harbi1	UTSW	2	91,542,880 (GRCm39)	missense	probably damaging	1.00
R0673:Harbi1	UTSW	2	91,542,880 (GRCm39)	missense	probably damaging	1.00
R3788:Harbi1	UTSW	2	91,550,952 (GRCm39)	missense	probably benign	0.10
R4296:Harbi1	UTSW	2	91,543,100 (GRCm39)	missense	possibly damaging	0.49
R7207:Harbi1	UTSW	2	91,542,790 (GRCm39)	missense	probably damaging	1.00
R7324:Harbi1	UTSW	2	91,551,044 (GRCm39)	missense	probably benign	0.16
R7728:Harbi1	UTSW	2	91,542,626 (GRCm39)	missense	possibly damaging	0.80
R8218:Harbi1	UTSW	2	91,543,237 (GRCm39)	missense	probably benign
R9095:Harbi1	UTSW	2	91,542,980 (GRCm39)	missense	probably damaging	0.96
R9244:Harbi1	UTSW	2	91,543,040 (GRCm39)	missense	probably damaging	1.00
R9562:Harbi1	UTSW	2	91,542,698 (GRCm39)	nonsense	probably null
R9604:Harbi1	UTSW	2	91,542,689 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CTGTTGAATTCTGATACTTACTGCGC -3'
(R):5'- TCAGTGACATTTGCAACGCAG -3'

Sequencing Primer
(F):5'- CTTACTGCGCTGGGAAAAATTCG -3'
(R):5'- GACTCATAGAGGCCTGGCTAATTC -3'

Posted On

2018-06-06