Mutagenetix > Incidental Mutation

Incidental Mutation 'R4212:AI464131'

319232

Institutional Source

Beutler Lab

Gene Symbol

AI464131

Ensembl Gene

ENSMUSG00000046312

Gene Name

expressed sequence AI464131

Synonyms

NET37

MMRRC Submission

041641-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4212 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

41495604-41503076 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41498307 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 441 (E441G)

Ref Sequence

ENSEMBL: ENSMUSP00000059038 (fasta)

Gene Model

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

AlphaFold

Q69ZQ1

Predicted Effect

probably benign
Transcript: ENSMUST00000054920
AA Change: E441G

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000059038
Gene: ENSMUSG00000046312
AA Change: E441G

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: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210016F16Rik	C	T	13: 58,381,991	G269E	probably damaging	Het
A1bg	G	T	15: 60,919,736	L284M	possibly damaging	Het
Adamts15	A	G	9: 30,906,174	V536A	probably damaging	Het
Arsi	A	T	18: 60,916,701	I219F	probably damaging	Het
Atg7	G	A	6: 114,703,425	G447E	probably benign	Het
Bdp1	T	A	13: 100,059,585	H1223L	probably benign	Het
Cep152	A	G	2: 125,620,001	M87T	probably benign	Het
Chrm3	T	C	13: 9,877,755	D415G	probably benign	Het
Chrnb2	A	T	3: 89,761,544	C155S	probably damaging	Het
Col6a4	T	A	9: 106,075,370	Q443L	probably benign	Het
D5Ertd579e	A	T	5: 36,614,479	D857E	probably damaging	Het
Efcab6	T	C	15: 83,892,863	D1124G	probably damaging	Het
F830045P16Rik	C	T	2: 129,460,353	A440T	probably benign	Het
Gc	T	C	5: 89,435,575	K370E	probably benign	Het
Gm11559	A	G	11: 99,864,900	Q125R	unknown	Het
Gm3985	A	T	8: 32,942,456		noncoding transcript	Het
Gm648	C	T	X: 56,545,208	V78I	probably benign	Het
Gm8765	C	T	13: 50,700,352	T82I	possibly damaging	Het
Gucy2e	A	G	11: 69,228,123	F681S	probably damaging	Het
Hip1r	A	G	5: 123,999,890	I760V	probably benign	Het
Islr2	C	T	9: 58,199,320	G219D	probably damaging	Het
Itgae	A	G	11: 73,119,352	H556R	probably benign	Het
Jag1	T	C	2: 137,085,070	D923G	probably benign	Het
Kmt2c	A	G	5: 25,347,359		probably null	Het
Kmt2d	A	G	15: 98,845,003		probably benign	Het
Krtap17-1	A	G	11: 99,993,914	L9P	unknown	Het
Lats2	C	T	14: 57,696,255	D802N	possibly damaging	Het
Lrfn5	A	T	12: 61,843,820	T632S	probably benign	Het
Myo9a	C	T	9: 59,906,066	R2183*	probably null	Het
Naip1	T	C	13: 100,426,875		probably null	Het
Nf1	T	A	11: 79,469,798	V1434E	probably damaging	Het
Nlrc4	T	C	17: 74,447,115	Y91C	possibly damaging	Het
Olfr1454	T	G	19: 13,063,759	M116R	probably damaging	Het
Olfr173	T	A	16: 58,797,369	H159L	possibly damaging	Het
Olfr723	A	T	14: 49,928,889	Y218*	probably null	Het
Pard3	T	A	8: 127,610,458	I1143K	probably benign	Het
Pcdha7	A	G	18: 36,974,974	T351A	probably benign	Het
Phf2	C	A	13: 48,820,613	G318V	unknown	Het
Plch1	T	A	3: 63,870,759		probably benign	Het
Polr1c	A	G	17: 46,246,120	I79T	probably damaging	Het
Ppp2r5e	A	G	12: 75,469,551	I244T	probably damaging	Het
Psmd12	T	C	11: 107,485,759	C74R	probably damaging	Het
Ralgapa1	A	G	12: 55,739,330		probably null	Het
Robo3	C	T	9: 37,421,898	G781D	probably damaging	Het
Scn8a	T	C	15: 100,957,073	V147A	possibly damaging	Het
Sema3b	C	T	9: 107,603,398	V117M	probably damaging	Het
Sfxn5	A	T	6: 85,332,306	L139*	probably null	Het
Slc2a12	A	T	10: 22,702,094	K596N	probably benign	Het
Sorcs1	G	A	19: 50,225,175	R705C	probably damaging	Het
Tlr4	T	A	4: 66,840,326	I452N	probably damaging	Het
Tshz3	A	G	7: 36,770,119	D511G	probably damaging	Het
Usp44	A	G	10: 93,846,770	K314E	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
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
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'- TGTTCTGTGACTGGTACCCC -3'
(R):5'- AACGCCAGTGACATGTTCCG -3'

Sequencing Primer
(F):5'- ACCTCGGCTAGCGAGAAG -3'
(R):5'- TGACATGTTCCGCCGCC -3'

Posted On

2015-06-10