Mutagenetix > Incidental Mutation

Incidental Mutation 'R7680:AI464131'

592685

Institutional Source

Beutler Lab

Gene Symbol

AI464131

Ensembl Gene

ENSMUSG00000046312

Gene Name

expressed sequence AI464131

Synonyms

NET37

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7680 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

41495604-41503076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 41497978 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Tyrosine at position 551 (D551Y)

Ref Sequence

ENSEMBL: ENSMUSP00000059038 (fasta)

Gene Model

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

AlphaFold

Q69ZQ1

Predicted Effect

probably damaging
Transcript: ENSMUST00000054920
AA Change: D551Y

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

SMART Domains

Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: D551Y

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 benign
Transcript: ENSMUST00000149596

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

100% (53/53)

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2510002D24Rik	A	G	16: 18,839,208	D104G	possibly damaging	Het
Ahi1	G	T	10: 21,007,768	C844F	possibly damaging	Het
B230118H07Rik	T	C	2: 101,610,556	E34G	probably damaging	Het
Bspry	T	C	4: 62,496,591	*474Q	probably null	Het
Car9	T	A	4: 43,507,250	D65E	probably damaging	Het
Ccdc110	T	A	8: 45,941,651	M193K	possibly damaging	Het
Ccdc166	A	G	15: 75,981,207	S304P	possibly damaging	Het
Cdcp1	T	C	9: 123,183,519	Q321R	probably damaging	Het
Cic	T	C	7: 25,292,431	V2255A	probably damaging	Het
Cmc2	A	T	8: 116,894,110	M44K	probably damaging	Het
Crls1	A	G	2: 132,862,338	T223A	probably damaging	Het
Ctnna3	A	T	10: 64,487,550	H488L	probably benign	Het
Cyp2r1	A	T	7: 114,552,819	I301N	probably damaging	Het
Dkk3	A	T	7: 112,119,363	L272Q	probably damaging	Het
Dnah14	A	G	1: 181,685,800	N1906S	probably benign	Het
Gm13271	T	C	4: 88,755,130	V88A	probably benign	Het
Gphn	C	A	12: 78,412,374	L79I	probably benign	Het
Gpr15	A	T	16: 58,717,965	W254R	probably damaging	Het
H2-M2	T	C	17: 37,483,025	R103G	possibly damaging	Het
Hcn4	T	C	9: 58,860,671	S1172P	probably benign	Het
Htr1a	A	G	13: 105,445,031	S260G	probably benign	Het
Kif21b	G	T	1: 136,147,869		probably null	Het
Lamp1	T	C	8: 13,167,812	Y131H	probably benign	Het
Lrrc47	A	C	4: 154,016,101	N378T	probably benign	Het
Manea	A	T	4: 26,340,649	H104Q	probably damaging	Het
Map4k3	A	G	17: 80,581,876	I888T	probably benign	Het
Mark3	T	C	12: 111,646,773	M557T	probably benign	Het
Muc6	G	C	7: 141,637,746	P2338R	probably damaging	Het
Myh6	C	A	14: 54,948,733	C1413F	possibly damaging	Het
Ncr1	T	A	7: 4,338,124	M38K	possibly damaging	Het
Nid2	A	G	14: 19,779,647	T669A	probably damaging	Het
Olfr49	T	A	14: 54,282,380	I172F	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plekha7	A	G	7: 116,164,276	Y364H	probably benign	Het
Plxnb1	T	A	9: 109,100,503	Y142*	probably null	Het
Ptprn	T	C	1: 75,247,893	I940V	probably benign	Het
Rnf213	T	C	11: 119,479,556	V4728A		Het
Samd9l	A	T	6: 3,372,569	L1564Q	probably damaging	Het
Samd9l	A	G	6: 3,376,469	I264T	probably damaging	Het
Slc16a7	T	C	10: 125,230,936	D278G	probably benign	Het
Slc35f2	T	A	9: 53,808,112	V214E	probably damaging	Het
Slc7a5	A	C	8: 121,907,267	S114A	probably damaging	Het
St6galnac3	A	G	3: 153,205,410	S305P	probably damaging	Het
Stat1	G	A	1: 52,144,209	R378Q	probably damaging	Het
Tnfrsf9	T	G	4: 150,929,938	C31W	probably damaging	Het
Tnk1	T	C	11: 69,856,745	E61G	possibly damaging	Het
Tnks1bp1	T	A	2: 85,059,241	D637E	probably benign	Het
Ttc17	C	T	2: 94,366,544	G486D	probably benign	Het
Vmn1r30	T	A	6: 58,435,299	R183*	probably null	Het
Vmn2r78	A	G	7: 86,954,941	T776A	probably damaging	Het
Wrap73	A	G	4: 154,156,622	E444G	probably benign	Het
Zc3h13	C	T	14: 75,330,515	R1083C	probably damaging	Het
Zfp189	A	G	4: 49,521,547		probably benign	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
R0455:AI464131	UTSW	4	41499538	nonsense	probably null
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
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'- AATTTGTGTGCGATGGCTACC -3'
(R):5'- AGGGACTTCAGCACCTACAG -3'

Sequencing Primer
(F):5'- GTGCGATGGCTACCACTTCTG -3'
(R):5'- CTGTCTGACCCCAGTGTGTG -3'

Posted On

2019-11-12