Mutagenetix > Incidental Mutation

Incidental Mutation 'R7207:Harbi1'

560680

Institutional Source

Beutler Lab

Gene Symbol

Harbi1

Ensembl Gene

ENSMUSG00000027243

Gene Name

harbinger transposase derived 1

Synonyms

D230010M03Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.111) question?

Stock #

R7207 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

91541197-91551890 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 91542790 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 84 (S84P)

Ref Sequence

ENSEMBL: ENSMUSP00000088098 (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 damaging
Transcript: ENSMUST00000090608
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000088098
Gene: ENSMUSG00000027243
AA Change: S84P

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 damaging
Transcript: ENSMUST00000111322
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000106954
Gene: ENSMUSG00000027243
AA Change: S84P

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

Predicted Effect

probably benign
Transcript: ENSMUST00000128140

Predicted Effect

probably damaging
Transcript: ENSMUST00000140183
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably damaging
Transcript: ENSMUST00000142692
AA Change: S84P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000121420
Gene: ENSMUSG00000027243
AA Change: S84P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	A	G	6: 128,527,734 (GRCm39)	Y1019H	probably benign	Het
Adam11	C	A	11: 102,662,883 (GRCm39)	A212D	probably benign	Het
Adamts13	C	A	2: 26,868,707 (GRCm39)	H230Q	probably damaging	Het
Adgrl3	G	A	5: 81,457,874 (GRCm39)	M1I	probably null	Het
Agap1	A	T	1: 89,770,821 (GRCm39)	H657L	possibly damaging	Het
Ano3	T	C	2: 110,611,768 (GRCm39)	D238G	probably damaging	Het
Atp8b5	A	T	4: 43,357,018 (GRCm39)	I589F	probably damaging	Het
Bmp1	C	T	14: 70,717,000 (GRCm39)	A859T	possibly damaging	Het
Cdh20	C	A	1: 104,921,702 (GRCm39)	D666E	probably damaging	Het
Cep135	T	G	5: 76,780,090 (GRCm39)	D807E	probably benign	Het
Cldn13	G	A	5: 134,943,766 (GRCm39)	H140Y	probably benign	Het
Cnksr1	G	T	4: 133,962,434 (GRCm39)	Q155K	possibly damaging	Het
Col1a1	G	A	11: 94,829,352 (GRCm39)	R121Q	unknown	Het
Coro6	G	A	11: 77,358,089 (GRCm39)	A225T	possibly damaging	Het
Ctse	C	A	1: 131,592,112 (GRCm39)	T146K	possibly damaging	Het
Dhrs7b	C	A	11: 60,746,623 (GRCm39)	Y237*	probably null	Het
Dnah3	A	G	7: 119,570,312 (GRCm39)	F2303L	probably damaging	Het
Dsg2	T	A	18: 20,734,516 (GRCm39)	D831E	probably damaging	Het
Dst	T	C	1: 34,202,418 (GRCm39)	S575P	probably damaging	Het
Epg5	T	C	18: 77,992,170 (GRCm39)	L289P	probably damaging	Het
Etl4	A	G	2: 20,714,387 (GRCm39)	N162S	probably damaging	Het
Fbf1	A	T	11: 116,040,300 (GRCm39)	Y602N	probably benign	Het
Fgd4	A	T	16: 16,302,420 (GRCm39)	M45K	probably benign	Het
Fryl	C	T	5: 73,222,438 (GRCm39)	V2048I	probably benign	Het
Gulp1	T	C	1: 44,805,292 (GRCm39)	V127A	possibly damaging	Het
H2-DMb1	T	A	17: 34,376,490 (GRCm39)	I203N	probably damaging	Het
Hrh2	T	C	13: 54,368,266 (GRCm39)	S81P	possibly damaging	Het
Iars1	T	C	13: 49,841,791 (GRCm39)		probably null	Het
Kcnma1	T	C	14: 23,359,083 (GRCm39)	*1087W	probably null	Het
Lama5	T	A	2: 179,848,877 (GRCm39)	N241I	probably damaging	Het
Lig4	T	A	8: 10,022,101 (GRCm39)	K560*	probably null	Het
Lpin3	G	T	2: 160,735,923 (GRCm39)	E68*	probably null	Het
Mrtfb	A	T	16: 13,144,300 (GRCm39)	I7L	probably benign	Het
Msrb3	A	T	10: 120,627,305 (GRCm39)		probably null	Het
Muc5b	A	G	7: 141,416,602 (GRCm39)	T3183A	probably benign	Het
Mx1	T	A	16: 97,253,398 (GRCm39)	D342V	probably benign	Het
Nrap	G	T	19: 56,333,953 (GRCm39)	T1003K	probably damaging	Het
Or8u10	A	G	2: 85,915,159 (GRCm39)	S321P	possibly damaging	Het
Plxna2	C	T	1: 194,326,327 (GRCm39)	P87L	probably damaging	Het
Pms2	C	T	5: 143,850,452 (GRCm39)	T89I	probably damaging	Het
Ppp1r12c	C	A	7: 4,492,867 (GRCm39)	R203L	probably damaging	Het
Pramel31	A	G	4: 144,088,473 (GRCm39)	T90A	probably benign	Het
Rab44	C	T	17: 29,357,013 (GRCm39)	Q48*	probably null	Het
Rgs14	T	C	13: 55,531,047 (GRCm39)	V417A	probably benign	Het
Sgms1	T	A	19: 32,120,147 (GRCm39)	K253M	probably null	Het
Sidt2	T	C	9: 45,856,449 (GRCm39)	Y492C	probably damaging	Het
Slco1a5	G	T	6: 142,194,475 (GRCm39)	Y389*	probably null	Het
Slfn14	G	A	11: 83,170,214 (GRCm39)	Q477*	probably null	Het
Sorbs3	T	C	14: 70,438,934 (GRCm39)	K142R	probably damaging	Het
Sphk1	A	T	11: 116,426,590 (GRCm39)	D182V	probably damaging	Het
Srsf9	C	G	5: 115,465,481 (GRCm39)	Y38*	probably null	Het
Stk40	A	C	4: 126,019,547 (GRCm39)	E107A	probably damaging	Het
Syngr4	T	C	7: 45,538,101 (GRCm39)	Y89C	possibly damaging	Het
Tead1	G	A	7: 112,441,287 (GRCm39)	R109H	possibly damaging	Het
Thra	A	G	11: 98,651,802 (GRCm39)	Q108R	probably damaging	Het
Tnni3k	G	A	3: 154,580,782 (GRCm39)	T621I	probably damaging	Het
Trim3	A	C	7: 105,262,583 (GRCm39)	V525G	possibly damaging	Het
Usp49	T	C	17: 47,989,802 (GRCm39)	V529A	probably benign	Het
Vill	A	T	9: 118,900,281 (GRCm39)	Q849L	possibly damaging	Het
Vps36	T	A	8: 22,701,623 (GRCm39)	S237T	probably benign	Het
Zar1l	A	T	5: 150,430,558 (GRCm39)	C284*	probably null	Het
Zfp948	T	C	17: 21,808,602 (GRCm39)	V598A	possibly damaging	Het
Zfp952	T	C	17: 33,222,489 (GRCm39)	Y323H	possibly damaging	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
R6545:Harbi1	UTSW	2	91,542,640 (GRCm39)	missense	probably damaging	0.99
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'- GACCTTGGACCGTTTTAAGCTG -3'
(R):5'- GGTGCCTTGATTGCTACATG -3'

Sequencing Primer
(F):5'- CTGGATGATGTGACTGACGAATAC -3'
(R):5'- GCCTTGATTGCTACATGGATAC -3'

Posted On

2019-06-26