Mutagenetix > Incidental Mutation

Incidental Mutation 'R6854:Gm6034'

543670

Institutional Source

Beutler Lab

Gene Symbol

Gm6034

Ensembl Gene

ENSMUSG00000073407

Gene Name

predicted gene 6034

Synonyms

MMRRC Submission

044957-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.054) question?

Stock #

R6854 (G1)

Quality Score

144.008

Status

Validated

Chromosome

Chromosomal Location

36353853-36369537 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 36368110 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000094943 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000097331] [ENSMUST00000113742]

AlphaFold

E9Q101

Predicted Effect

probably null
Transcript: ENSMUST00000097331

SMART Domains

Protein: ENSMUSP00000094943
Gene: ENSMUSG00000073407

Domain	Start	End	E-Value	Type
transmembrane domain	15	37	N/A	INTRINSIC
low complexity region	103	115	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113742

SMART Domains

Protein: ENSMUSP00000109371
Gene: ENSMUSG00000079492

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
Pfam:MHC_I	26	204	6.4e-81	PFAM
IGc1	220	291	2.53e-23	SMART
transmembrane domain	306	328	N/A	INTRINSIC

Meta Mutation Damage Score

0.9756

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

100% (44/44)

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahnak	T	C	19: 8,992,599 (GRCm39)	S4628P	probably damaging	Het
Aspm	G	A	1: 139,390,920 (GRCm39)	R735H	possibly damaging	Het
Atp4a	T	C	7: 30,414,433 (GRCm39)	V152A	probably benign	Het
BC035947	G	A	1: 78,475,125 (GRCm39)	T469I	probably damaging	Het
Bicra	A	T	7: 15,722,687 (GRCm39)	S277T	probably benign	Het
Catsperg1	A	T	7: 28,881,127 (GRCm39)	N1142K	possibly damaging	Het
Ccnd3	T	C	17: 47,889,645 (GRCm39)		probably benign	Het
Cdc25a	A	G	9: 109,708,995 (GRCm39)	K79E	probably damaging	Het
Cfap44	A	G	16: 44,269,391 (GRCm39)		probably null	Het
Chd5	C	A	4: 152,467,395 (GRCm39)	N1644K	probably damaging	Het
Flrt3	C	T	2: 140,502,638 (GRCm39)	R330H	probably damaging	Het
Hivep1	A	G	13: 42,309,983 (GRCm39)	E741G	probably damaging	Het
Iqgap3	T	C	3: 88,004,258 (GRCm39)	V448A	probably damaging	Het
Itsn2	A	G	12: 4,702,382 (GRCm39)	R679G	probably benign	Het
Klrb1c	A	G	6: 128,765,381 (GRCm39)	S70P	possibly damaging	Het
Maml2	C	T	9: 13,617,131 (GRCm39)	T159I	possibly damaging	Het
Mroh2a	G	A	1: 88,171,672 (GRCm39)	R770Q	probably damaging	Het
Mycl	G	A	4: 122,894,039 (GRCm39)	D280N	probably damaging	Het
Nlrp1b	G	A	11: 71,119,259 (GRCm39)	T12I	possibly damaging	Het
Or4f14c	T	C	2: 111,940,992 (GRCm39)	N202D	probably benign	Het
Or5h19	A	C	16: 58,856,428 (GRCm39)	I224S	possibly damaging	Het
Palmd	A	G	3: 116,717,112 (GRCm39)	S462P	probably benign	Het
Phyhd1	A	C	2: 30,159,773 (GRCm39)	I36L	possibly damaging	Het
Plcd1	T	C	9: 118,903,389 (GRCm39)		probably null	Het
Pml	G	C	9: 58,127,189 (GRCm39)	A806G	probably damaging	Het
Ppp6r1	C	A	7: 4,635,395 (GRCm39)	A838S	probably benign	Het
Prkdc	C	T	16: 15,469,402 (GRCm39)	T169I	probably damaging	Het
Prr23a1	G	T	9: 98,724,988 (GRCm39)	V117L	possibly damaging	Het
Pus7	T	C	5: 23,973,845 (GRCm39)		silent	Het
Rdh7	T	C	10: 127,724,250 (GRCm39)	E78G	probably benign	Het
Repin1	G	T	6: 48,570,825 (GRCm39)		probably benign	Het
Rptn	A	G	3: 93,305,430 (GRCm39)	N921S	possibly damaging	Het
Sema4f	A	G	6: 82,894,983 (GRCm39)	L404P	probably damaging	Het
Serinc4	T	A	2: 121,287,031 (GRCm39)	M2L	probably benign	Het
Siglecf	T	C	7: 43,001,604 (GRCm39)	V138A	probably benign	Het
Slc66a3	G	A	12: 17,049,830 (GRCm39)	L43F	probably damaging	Het
Speer2	T	A	16: 69,655,775 (GRCm39)	Q106L	probably damaging	Het
Sptb	G	A	12: 76,650,254 (GRCm39)	P1821L	probably damaging	Het
St3gal3	C	A	4: 117,815,727 (GRCm39)	M107I	probably benign	Het
Tmem25	T	C	9: 44,707,305 (GRCm39)	K265E	possibly damaging	Het
Ttll3	CAAAGTAA	CAAAGTAAAGTAA	6: 113,376,118 (GRCm39)		probably null	Het
Vsig10	G	A	5: 117,476,472 (GRCm39)	V309I	probably benign	Het
Zfp318	G	GAAGAAA	17: 46,723,468 (GRCm39)		probably benign	Het

Other mutations in Gm6034

Allele	Source	Chr	Coord	Type	Predicted Effect
IGL02560:Gm6034	APN	17	36,367,356 (GRCm39)	intron	probably benign
R1721:Gm6034	UTSW	17	36,354,045 (GRCm39)	unclassified	probably benign
R6767:Gm6034	UTSW	17	36,354,023 (GRCm39)	start codon destroyed	probably null
R7224:Gm6034	UTSW	17	36,367,331 (GRCm39)	missense	unknown
R8229:Gm6034	UTSW	17	36,367,268 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGACTCCTGTTCCAGACTGG -3'
(R):5'- TTGGAGGAAGCTCAGCAAC -3'

Sequencing Primer
(F):5'- TCCAGACTGGGTGGGTC -3'
(R):5'- TGATGTAGTTTGAGGAACAACCC -3'

Posted On

2019-05-01