Mutagenetix > Incidental Mutations

Incidental Mutation 'R0455:AI464131'

39945

Institutional Source

Beutler Lab

Gene Symbol

AI464131

Ensembl Gene

ENSMUSG00000046312

Gene Name

expressed sequence AI464131

Synonyms

NET37

MMRRC Submission

038655-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0455 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41495604-41503076 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to A at 41499538 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 31 (R31*)

Ref Sequence

ENSEMBL: ENSMUSP00000122357 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054920] [ENSMUST00000149596]

AlphaFold

Q69ZQ1

Predicted Effect

probably null
Transcript: ENSMUST00000054920
AA Change: R31*

SMART Domains

Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: R31*

Domain	Start	End	E-Value	Type
transmembrane domain	56	78	N/A	INTRINSIC
Pfam:Glyco_hydro_31	311	712	9.7e-55	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000149596
AA Change: R31*

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.7%
20x: 90.8%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921539E11Rik	C	T	4: 103,230,983	G342D	possibly damaging	Het
Acvr2b	C	T	9: 119,432,609	R399W	probably damaging	Het
Atf6	A	G	1: 170,834,923	V256A	probably benign	Het
Atp2b4	A	T	1: 133,728,716	I732N	probably damaging	Het
C1qtnf9	A	C	14: 60,772,371	Q25H	probably damaging	Het
Ccdc6	T	A	10: 70,142,571		probably benign	Het
Cds2	T	C	2: 132,285,967		probably null	Het
Chdh	A	G	14: 30,034,646	Y343C	probably damaging	Het
Col5a2	T	C	1: 45,382,102		probably benign	Het
Cts3	G	A	13: 61,568,210		probably benign	Het
Cyfip1	T	A	7: 55,892,054	D362E	probably benign	Het
Dsg1b	T	A	18: 20,396,025	S273T	probably benign	Het
Dysf	A	T	6: 84,140,667	H1274L	probably benign	Het
Eva1c	T	C	16: 90,876,098	S187P	probably benign	Het
Fam126b	T	C	1: 58,534,479		probably benign	Het
Fam13b	G	A	18: 34,445,528		probably benign	Het
Fam172a	T	A	13: 77,834,713		probably benign	Het
Fbn2	C	T	18: 58,035,336	G2310S	probably damaging	Het
Fcna	T	C	2: 25,625,508	Y183C	probably damaging	Het
Fnta	T	C	8: 26,001,028	T263A	probably benign	Het
Gm94	T	C	18: 43,781,244	D83G	possibly damaging	Het
Gnal	C	T	18: 67,135,649		probably benign	Het
Grb7	T	G	11: 98,452,188	S244A	probably benign	Het
Grm3	T	C	5: 9,512,477	T458A	probably benign	Het
Hdac2	C	T	10: 36,991,836	R193C	probably damaging	Het
Ighmbp2	T	C	19: 3,265,072	R783G	probably benign	Het
Inpp5j	G	T	11: 3,503,122	L43I	possibly damaging	Het
Itga11	A	T	9: 62,696,961	T44S	probably damaging	Het
Itsn1	C	T	16: 91,868,148		probably benign	Het
Kdm6b	G	T	11: 69,406,996	C233*	probably null	Het
Lamb3	T	C	1: 193,343,392	L1130P	probably damaging	Het
Lrch3	T	C	16: 32,986,880	F508L	probably damaging	Het
Lrrd1	T	A	5: 3,866,425	V814E	probably benign	Het
Megf10	C	T	18: 57,252,982	P356S	probably benign	Het
Naip1	A	T	13: 100,423,219	D1092E	probably benign	Het
Nus1	T	A	10: 52,430,094	V42E	probably damaging	Het
Olfr435	A	C	6: 43,202,072	M143L	probably benign	Het
Olfr739	A	G	14: 50,424,902	I128V	possibly damaging	Het
Padi3	T	C	4: 140,795,713	N306S	probably damaging	Het
Pex13	T	C	11: 23,655,949	S94G	probably benign	Het
Ppm1h	G	T	10: 122,802,324	Q166H	probably benign	Het
Ptafr	A	T	4: 132,580,085	Y262F	probably benign	Het
Rabgap1	T	A	2: 37,487,120	D321E	probably damaging	Het
Samsn1	C	T	16: 75,945,225		noncoding transcript	Het
Scarb1	T	C	5: 125,289,681	N63D	probably damaging	Het
Serpinb7	T	C	1: 107,451,610	I249T	possibly damaging	Het
Srpr	A	G	9: 35,214,981	K490R	probably benign	Het
Sycn	A	G	7: 28,540,973	N22D	probably benign	Het
Tarbp1	C	T	8: 126,440,873	A1067T	probably benign	Het
Tex14	A	G	11: 87,514,305	D681G	possibly damaging	Het
Usp34	C	T	11: 23,446,741		probably benign	Het
Vmn2r107	T	C	17: 20,374,823		probably benign	Het
Vwde	A	T	6: 13,187,529	M653K	probably benign	Het
Wrap73	T	A	4: 154,148,743	S125T	possibly damaging	Het

Other mutations in AI464131

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01287:AI464131	APN	4	41498923	missense	possibly damaging	0.68
IGL01352:AI464131	APN	4	41499469	nonsense	probably null
IGL01384:AI464131	APN	4	41498151	missense	probably damaging	0.99
IGL02150:AI464131	APN	4	41499183	missense	possibly damaging	0.48
IGL02557:AI464131	APN	4	41497900	missense	possibly damaging	0.51
R0238:AI464131	UTSW	4	41498912	missense	probably benign	0.11
R0238:AI464131	UTSW	4	41498912	missense	probably benign	0.11
R0413:AI464131	UTSW	4	41498585	missense	probably benign	0.00
R0511:AI464131	UTSW	4	41498538	missense	probably damaging	0.96
R0560:AI464131	UTSW	4	41498167	missense	probably damaging	0.99
R0785:AI464131	UTSW	4	41497539	missense	probably benign	0.02
R0940:AI464131	UTSW	4	41497996	missense	probably damaging	1.00
R1677:AI464131	UTSW	4	41497947	missense	probably benign	0.00
R1762:AI464131	UTSW	4	41498553	missense	possibly damaging	0.91
R1984:AI464131	UTSW	4	41497501	missense	possibly damaging	0.95
R2192:AI464131	UTSW	4	41497704	missense	probably damaging	0.99
R2496:AI464131	UTSW	4	41499165	missense	probably benign	0.28
R4212:AI464131	UTSW	4	41498307	missense	probably benign	0.01
R4321:AI464131	UTSW	4	41498767	missense	probably benign	0.00
R4672:AI464131	UTSW	4	41499061	missense	probably benign	0.00
R4890:AI464131	UTSW	4	41498877	missense	probably benign	0.00
R4954:AI464131	UTSW	4	41498241	missense	possibly damaging	0.89
R5177:AI464131	UTSW	4	41498407	nonsense	probably null
R5967:AI464131	UTSW	4	41497830	missense	probably benign	0.00
R6005:AI464131	UTSW	4	41498895	missense	probably benign	0.31
R6128:AI464131	UTSW	4	41498445	missense	probably damaging	1.00
R6162:AI464131	UTSW	4	41497899	missense	possibly damaging	0.51
R7202:AI464131	UTSW	4	41498268	missense	probably damaging	0.99
R7211:AI464131	UTSW	4	41498028	missense	probably damaging	1.00
R7311:AI464131	UTSW	4	41498577	missense	probably damaging	1.00
R7524:AI464131	UTSW	4	41498779	missense	probably benign	0.03
R7680:AI464131	UTSW	4	41497978	missense	probably damaging	1.00
R8177:AI464131	UTSW	4	41497568	nonsense	probably null
R8809:AI464131	UTSW	4	41498812	missense	probably benign
R8981:AI464131	UTSW	4	41498209	missense	possibly damaging	0.56
R9257:AI464131	UTSW	4	41499030	missense	probably benign
X0024:AI464131	UTSW	4	41498107	missense	possibly damaging	0.92
Z1088:AI464131	UTSW	4	41497557	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- CCTTCTGGTTACGGATGGAGAAGC -3'
(R):5'- CCAATTTGGCAAGCATTGGGGC -3'

Sequencing Primer
(F):5'- ACGGTTCAGGTCCAGCAG -3'
(R):5'- CGTGAATCAGAAAACTCAGTTTCCTC -3'

Posted On

2013-05-23