Mutagenetix > Incidental Mutations

Incidental Mutation 'R6159:Gm2035'

489769

Institutional Source

Beutler Lab

Gene Symbol

Gm2035

Ensembl Gene

ENSMUSG00000096619

Gene Name

predicted pseudogene 2035

Synonyms

MMRRC Submission

044306-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R6159 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

87919423-87919857 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 87919751 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 36 (A36V)

Ref Sequence

ENSEMBL: ENSMUSP00000137146 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000180053]

Predicted Effect

probably damaging
Transcript: ENSMUST00000180053
AA Change: A36V

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

SMART Domains

Protein: ENSMUSP00000137146
Gene: ENSMUSG00000096619
AA Change: A36V

Domain	Start	End	E-Value	Type
low complexity region	3	25	N/A	INTRINSIC
eIF1a	28	110	4.13e-45	SMART
low complexity region	125	144	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 98.0%
20x: 94.2%

Validation Efficiency

96% (54/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahcyl2	A	C	6: 29,908,458	N609T	possibly damaging	Het
Ankzf1	G	A	1: 75,194,244	C98Y	probably damaging	Het
Atg101	T	A	15: 101,290,638	M208K	possibly damaging	Het
Baiap2l2	A	G	15: 79,259,730	I388T	probably benign	Het
Cabs1	C	T	5: 87,979,754	T88I	possibly damaging	Het
Chrnd	T	A	1: 87,191,090	D56E	probably benign	Het
Col28a1	A	T	6: 8,162,247		probably null	Het
Col4a1	G	T	8: 11,220,007	P899Q	probably damaging	Het
Cts3	C	A	13: 61,566,841	A217S	probably damaging	Het
Dab2	A	G	15: 6,436,460	N495S	possibly damaging	Het
Dnah2	T	A	11: 69,458,542	I2423F	probably damaging	Het
Dnah2	C	T	11: 69,458,920	R2399Q	probably benign	Het
Dock6	T	C	9: 21,821,745	H1053R	probably benign	Het
Fam184a	G	A	10: 53,698,773	L191F	probably damaging	Het
Fip1l1	C	T	5: 74,591,947	R472W	probably damaging	Het
Gbp2	T	C	3: 142,632,257	F378S	probably damaging	Het
Ggt1	A	T	10: 75,584,965	E388V	probably damaging	Het
Gm14496	A	G	2: 181,996,257	T375A	probably benign	Het
Gm43302	A	G	5: 105,289,028	S71P	probably benign	Het
Gnrhr	G	T	5: 86,182,357	T268K	probably damaging	Het
Htt	T	C	5: 34,804,676	V335A	probably benign	Het
Klhl20	A	T	1: 161,105,467	L257H	probably damaging	Het
Lrrc29	T	C	8: 105,323,293	Y33C	probably damaging	Het
Med27	C	A	2: 29,524,364		probably null	Het
Muc5ac	T	A	7: 141,815,586	C2433S	possibly damaging	Het
Nasp	A	G	4: 116,603,889		probably null	Het
Nipal2	A	C	15: 34,600,026	V215G	probably damaging	Het
Olfr121	A	T	17: 37,752,147	I98F	probably damaging	Het
Olfr1505	C	T	19: 13,919,740	T240I	probably damaging	Het
Oxct2b	G	A	4: 123,117,451	R388H	probably damaging	Het
Pbrm1	A	G	14: 31,052,283	I469V	possibly damaging	Het
Phyhip	A	G	14: 70,466,854	H171R	possibly damaging	Het
Pigs	C	T	11: 78,328,500	T9M	probably benign	Het
Plek	T	C	11: 16,985,539	D256G	probably damaging	Het
Prss50	T	C	9: 110,864,303	V369A	probably benign	Het
Psmc5	A	G	11: 106,261,262	K82E	possibly damaging	Het
Qrsl1	A	T	10: 43,882,193	F301L	probably benign	Het
Rasal1	T	C	5: 120,659,608	L135P	probably damaging	Het
Rbm47	A	G	5: 66,026,816	V148A	probably damaging	Het
Scyl1	T	A	19: 5,764,757	D381V	probably benign	Het
Selplg	G	T	5: 113,819,101	D381E	probably benign	Het
Sh3rf2	C	A	18: 42,156,135	Q674K	probably damaging	Het
Sned1	A	G	1: 93,282,937	T987A	probably benign	Het
Sntb1	A	G	15: 55,676,302		probably null	Het
Synj2	A	T	17: 5,986,052	I14F	probably damaging	Het
Taf2	A	T	15: 55,063,044	M170K	possibly damaging	Het
Tg	A	G	15: 66,735,247	E211G	possibly damaging	Het
Thnsl1	G	T	2: 21,212,205	E257*	probably null	Het
Tlr4	A	G	4: 66,839,833	R288G	possibly damaging	Het
Trbc1	T	C	6: 41,538,451		probably benign	Het
Trim37	G	A	11: 87,216,548		probably null	Het
Txnrd3	T	C	6: 89,663,194		probably null	Het
Tyk2	C	A	9: 21,110,504	Q875H	probably damaging	Het
Vmn2r55	A	G	7: 12,651,771	Y761H	probably damaging	Het
Zswim5	T	C	4: 116,979,679	L720P	probably damaging	Het

Other mutations in Gm2035

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02314:Gm2035	APN	12	87919607	missense	probably benign	0.00
IGL02347:Gm2035	APN	12	87919589	missense	probably damaging	1.00
IGL02639:Gm2035	APN	12	87919499	missense	probably benign	0.04
R4230:Gm2035	UTSW	12	87919797	missense	unknown
R5969:Gm2035	UTSW	12	87919478	missense	unknown
R6359:Gm2035	UTSW	12	87919505	missense	probably benign	0.09
R7181:Gm2035	UTSW	12	87919722	missense	possibly damaging	0.49
R7183:Gm2035	UTSW	12	87919722	missense	possibly damaging	0.49
R7184:Gm2035	UTSW	12	87919722	missense	possibly damaging	0.49
R7653:Gm2035	UTSW	12	87919478	missense	unknown
R8046:Gm2035	UTSW	12	87919565	missense	probably benign	0.02
R8353:Gm2035	UTSW	12	87919553	missense	probably benign
R8453:Gm2035	UTSW	12	87919553	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GGAAGTTCTCCATAGGCCTTC -3'
(R):5'- GAGTCACAACCACTGTCAGTC -3'

Sequencing Primer
(F):5'- AAGTTCTCCATAGGCCTTCAGACTTC -3'
(R):5'- CTGTCAGTCAGTGTCTGCCAG -3'

Posted On

2017-10-10