Mutagenetix > Incidental Mutation

Incidental Mutation 'R6020:Gm340'

478909

Institutional Source

Beutler Lab

Gene Symbol

Gm340

Ensembl Gene

ENSMUSG00000090673

Gene Name

predicted gene 340

Synonyms

LOC381224

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.139) question?

Stock #

R6020 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41582370-41586536 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 41583547 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 247 (G247D)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172371]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172371
AA Change: G247D

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: G247D

Domain	Start	End	E-Value	Type
low complexity region	10	17	N/A	INTRINSIC
low complexity region	438	450	N/A	INTRINSIC
low complexity region	710	724	N/A	INTRINSIC
low complexity region	768	779	N/A	INTRINSIC
Pfam:DUF4553	787	1241	9.7e-179	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.8%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca9	C	A	11: 110,145,613 (GRCm38)	V557F	possibly damaging	Het
Abi3	A	T	11: 95,842,025 (GRCm38)	L41*	probably null	Het
Actn1	C	A	12: 80,174,455 (GRCm38)		probably null	Het
Adamts15	G	T	9: 30,902,062 (GRCm38)	R936S	probably benign	Het
Angel2	T	C	1: 190,932,871 (GRCm38)	S22P	probably benign	Het
Ank2	T	G	3: 126,946,821 (GRCm38)		probably benign	Het
Astn1	A	G	1: 158,509,993 (GRCm38)	D423G	probably damaging	Het
Casp9	A	G	4: 141,796,538 (GRCm38)	D78G	probably damaging	Het
Cbr4	A	G	8: 61,487,853 (GRCm38)	D2G	probably benign	Het
Ccdc8	T	A	7: 16,996,581 (GRCm38)	L665H	probably damaging	Het
Cdh23	T	A	10: 60,331,326 (GRCm38)	N1847I	probably damaging	Het
Cnst	T	C	1: 179,609,875 (GRCm38)	W335R	probably benign	Het
Ddr2	T	A	1: 170,005,102 (GRCm38)	I130F	probably benign	Het
Dnah2	C	T	11: 69,500,839 (GRCm38)	A677T	probably benign	Het
Dzip3	C	A	16: 48,951,842 (GRCm38)	W488L	probably damaging	Het
Ephb3	T	G	16: 21,222,013 (GRCm38)	I637S	probably damaging	Het
Etv3	A	G	3: 87,529,364 (GRCm38)	D142G	probably benign	Het
Fabp5	C	T	3: 10,016,089 (GRCm38)	T126I	probably benign	Het
Fam13b	A	C	18: 34,494,774 (GRCm38)	Y125D	probably damaging	Het
Fsip2	C	A	2: 82,992,127 (GRCm38)	P6068Q	probably damaging	Het
Gm11232	A	G	4: 71,756,668 (GRCm38)	F199S	possibly damaging	Het
Gm5493	A	G	17: 22,748,061 (GRCm38)	K57E	probably benign	Het
Gm7334	A	G	17: 50,699,237 (GRCm38)	M184V	probably benign	Het
Gm9894	T	C	13: 67,763,835 (GRCm38)		noncoding transcript	Het
Gpd2	T	A	2: 57,364,513 (GRCm38)	N674K	probably benign	Het
H2-M10.6	A	G	17: 36,813,067 (GRCm38)	Y141C	probably damaging	Het
Heatr5a	C	T	12: 51,884,327 (GRCm38)	E1796K	probably benign	Het
Hexim2	A	G	11: 103,138,292 (GRCm38)	T57A	probably benign	Het
Hrg	A	T	16: 22,954,518 (GRCm38)	N134Y	probably damaging	Het
Hsd17b12	T	C	2: 94,033,977 (GRCm38)	T262A	probably damaging	Het
Irak3	G	T	10: 120,143,137 (GRCm38)	P470T	probably damaging	Het
Itgbl1	A	T	14: 123,846,565 (GRCm38)	D285V	probably damaging	Het
Kcp	A	T	6: 29,502,864 (GRCm38)	V164E	probably benign	Het
Klhdc7b	T	A	15: 89,388,386 (GRCm38)	M1157K	probably damaging	Het
Mdc1	G	A	17: 35,848,633 (GRCm38)	G635D	probably benign	Het
Mdc1	A	G	17: 35,857,572 (GRCm38)	K1690R	probably benign	Het
Mpp3	A	T	11: 102,018,539 (GRCm38)		probably benign	Het
Ncor2	G	T	5: 125,020,011 (GRCm38)	H2285N	probably benign	Het
Neb	T	A	2: 52,257,827 (GRCm38)	T2727S	probably benign	Het
Nkx6-2	T	C	7: 139,581,567 (GRCm38)	D234G	possibly damaging	Het
Nlrp9c	T	C	7: 26,384,725 (GRCm38)	I476M	probably benign	Het
Nrsn1	T	G	13: 25,253,372 (GRCm38)	Q191P	probably damaging	Het
Olfr116	A	T	17: 37,623,967 (GRCm38)	S223T	possibly damaging	Het
Olfr390	C	T	11: 73,787,552 (GRCm38)	L205F	probably benign	Het
Olfr610	T	A	7: 103,506,799 (GRCm38)	H49L	probably benign	Het
Patl1	T	G	19: 11,937,354 (GRCm38)	L623R	probably damaging	Het
Pdc	T	C	1: 150,333,366 (GRCm38)	I200T	probably benign	Het
Pdzk1	A	G	3: 96,868,426 (GRCm38)	D370G	probably benign	Het
Pglyrp3	A	T	3: 92,031,534 (GRCm38)	I339F	probably damaging	Het
Plxnb1	T	C	9: 109,116,611 (GRCm38)	V2070A	probably damaging	Het
Poln	G	A	5: 34,109,431 (GRCm38)	R461C	probably damaging	Het
Prl2b1	C	A	13: 27,383,508 (GRCm38)	V218L	probably damaging	Het
Pygl	T	C	12: 70,216,654 (GRCm38)	D55G	probably damaging	Het
Rif1	C	G	2: 52,095,844 (GRCm38)	L614V	probably damaging	Het
Rnd2	C	T	11: 101,468,999 (GRCm38)	L57F	probably damaging	Het
RP24-351P7.8	T	C	7: 11,610,301 (GRCm38)	F62S	probably damaging	Het
Rsrp1	T	C	4: 134,924,381 (GRCm38)	F152S	probably damaging	Het
Sim2	T	C	16: 94,097,251 (GRCm38)	S115P	probably damaging	Het
Slc17a1	T	A	13: 23,875,610 (GRCm38)	I108K	possibly damaging	Het
Slc30a8	A	G	15: 52,325,658 (GRCm38)	D223G	probably damaging	Het
Slc39a4	A	T	15: 76,616,142 (GRCm38)	N69K	probably benign	Het
Slc51a	T	G	16: 32,479,766 (GRCm38)	T58P	probably damaging	Het
Slc7a14	T	C	3: 31,224,112 (GRCm38)	H448R	probably benign	Het
Smc3	G	A	19: 53,625,163 (GRCm38)		probably null	Het
Sox6	A	T	7: 115,486,628 (GRCm38)	D659E	probably damaging	Het
Stard9	GCCC	GCC	2: 120,693,715 (GRCm38)		probably null	Het
Tsr1	C	T	11: 74,900,293 (GRCm38)		probably null	Het
Ttc12	T	C	9: 49,443,122 (GRCm38)	K565E	probably damaging	Het
Ube4b	A	T	4: 149,368,311 (GRCm38)	V386E	probably benign	Het
Ush2a	T	A	1: 188,728,096 (GRCm38)		probably null	Het
Usp5	C	A	6: 124,817,613 (GRCm38)		probably benign	Het
Vmn1r216	T	C	13: 23,099,935 (GRCm38)	F263L	probably benign	Het
Vmn2r88	T	A	14: 51,418,149 (GRCm38)	L606*	probably null	Het
Wee2	T	A	6: 40,449,620 (GRCm38)		probably null	Het
Zfhx3	T	C	8: 108,792,527 (GRCm38)	Y94H	probably damaging	Het
Zfp385c	G	A	11: 100,632,768 (GRCm38)	P120L	probably benign	Het

Other mutations in Gm340

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB003:Gm340	UTSW	19	41,582,569 (GRCm38)	missense	probably benign
BB013:Gm340	UTSW	19	41,582,569 (GRCm38)	missense	probably benign
R0006:Gm340	UTSW	19	41,584,899 (GRCm38)	missense	probably benign	0.00
R0686:Gm340	UTSW	19	41,582,372 (GRCm38)	missense	possibly damaging	0.73
R1104:Gm340	UTSW	19	41,586,063 (GRCm38)	missense	probably damaging	0.99
R1278:Gm340	UTSW	19	41,584,683 (GRCm38)	missense	probably benign	0.07
R1606:Gm340	UTSW	19	41,585,074 (GRCm38)	missense	probably benign	0.35
R1833:Gm340	UTSW	19	41,584,948 (GRCm38)	missense	probably benign	0.00
R1905:Gm340	UTSW	19	41,583,574 (GRCm38)	missense	possibly damaging	0.73
R2697:Gm340	UTSW	19	41,584,027 (GRCm38)	missense	probably benign	0.43
R2881:Gm340	UTSW	19	41,583,049 (GRCm38)	missense	probably damaging	1.00
R4720:Gm340	UTSW	19	41,585,895 (GRCm38)	missense	probably benign	0.04
R4864:Gm340	UTSW	19	41,585,364 (GRCm38)	missense	probably benign
R4908:Gm340	UTSW	19	41,584,162 (GRCm38)	missense	probably benign	0.00
R5193:Gm340	UTSW	19	41,582,530 (GRCm38)	missense	probably damaging	1.00
R5215:Gm340	UTSW	19	41,585,932 (GRCm38)	missense	probably damaging	1.00
R5276:Gm340	UTSW	19	41,585,039 (GRCm38)	missense	probably damaging	0.98
R5319:Gm340	UTSW	19	41,586,352 (GRCm38)	missense	probably damaging	0.99
R5321:Gm340	UTSW	19	41,585,204 (GRCm38)	missense	probably damaging	1.00
R5432:Gm340	UTSW	19	41,584,603 (GRCm38)	missense	probably damaging	1.00
R5605:Gm340	UTSW	19	41,582,863 (GRCm38)	missense	probably damaging	1.00
R5941:Gm340	UTSW	19	41,586,400 (GRCm38)	missense	probably damaging	1.00
R6024:Gm340	UTSW	19	41,583,957 (GRCm38)	missense	possibly damaging	0.84
R6149:Gm340	UTSW	19	41,585,202 (GRCm38)	missense	probably damaging	1.00
R6260:Gm340	UTSW	19	41,582,371 (GRCm38)	missense	possibly damaging	0.73
R6260:Gm340	UTSW	19	41,582,370 (GRCm38)	missense	probably null	0.91
R6476:Gm340	UTSW	19	41,583,079 (GRCm38)	missense	probably benign	0.04
R7051:Gm340	UTSW	19	41,585,752 (GRCm38)	missense	probably benign	0.05
R7285:Gm340	UTSW	19	41,584,315 (GRCm38)	missense	possibly damaging	0.91
R7372:Gm340	UTSW	19	41,585,506 (GRCm38)	missense	probably damaging	1.00
R7762:Gm340	UTSW	19	41,583,667 (GRCm38)	missense	probably benign	0.02
R7833:Gm340	UTSW	19	41,584,585 (GRCm38)	missense	probably benign	0.02
R7926:Gm340	UTSW	19	41,582,569 (GRCm38)	missense	probably benign
R8164:Gm340	UTSW	19	41,585,410 (GRCm38)	missense	probably damaging	1.00
R8319:Gm340	UTSW	19	41,582,904 (GRCm38)	missense	probably damaging	1.00
R8323:Gm340	UTSW	19	41,583,597 (GRCm38)	missense	probably benign	0.01
R8327:Gm340	UTSW	19	41,582,557 (GRCm38)	missense	probably damaging	1.00
R8423:Gm340	UTSW	19	41,585,449 (GRCm38)	missense	possibly damaging	0.95
R8780:Gm340	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R8781:Gm340	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R8788:Gm340	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R8798:Gm340	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R9013:Gm340	UTSW	19	41,584,750 (GRCm38)	missense	probably damaging	1.00
R9035:Gm340	UTSW	19	41,584,960 (GRCm38)	missense	probably benign	0.00
R9065:Gm340	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R9067:Gm340	UTSW	19	41,585,259 (GRCm38)	missense	probably damaging	1.00
R9083:Gm340	UTSW	19	41,586,400 (GRCm38)	missense	probably damaging	0.99
R9105:Gm340	UTSW	19	41,584,872 (GRCm38)	missense	possibly damaging	0.88
R9487:Gm340	UTSW	19	41,585,246 (GRCm38)	missense	probably damaging	1.00
R9573:Gm340	UTSW	19	41,585,032 (GRCm38)	missense	probably damaging	1.00
R9704:Gm340	UTSW	19	41,584,059 (GRCm38)	missense	possibly damaging	0.61
X0013:Gm340	UTSW	19	41,584,532 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGTGCACAACTTCCTAGAGTAG -3'
(R):5'- TTCTGGCACCTCAGACATATTG -3'

Sequencing Primer
(F):5'- AGAGTAGATGTCCAGCTTTCCTCAG -3'
(R):5'- GAGGCATGCTGGGCTAG -3'

Posted On

2017-06-26