Mutagenetix > Incidental Mutations

Incidental Mutation 'R6476:Gm340'

516819

Institutional Source

Beutler Lab

Gene Symbol

Gm340

Ensembl Gene

ENSMUSG00000090673

Gene Name

predicted gene 340

Synonyms

LOC381224

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.096) question?

Stock #

R6476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41582370-41586536 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 41583079 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 237 (T237I)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172371
AA Change: T237I

PolyPhen 2 Score 0.040 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: T237I

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: 98.3%
20x: 95.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020D05Rik	A	C	19: 5,503,225	I176S	probably damaging	Het
a	T	C	2: 155,050,779	V126A	probably benign	Het
Adamts20	T	C	15: 94,361,810	Q336R	probably benign	Het
Ankrd36	A	G	11: 5,628,753	T6A	probably benign	Het
Arhgap33	A	G	7: 30,524,412	S731P	probably damaging	Het
Arhgef10l	G	C	4: 140,611,382	P23R	probably damaging	Het
Atf7	T	C	15: 102,593,712	D3G	probably benign	Het
Caps2	A	G	10: 112,175,560	T30A	possibly damaging	Het
Ccdc15	A	T	9: 37,342,419	I191N	probably benign	Het
Cep170	A	T	1: 176,780,351	S180T	possibly damaging	Het
Chd1	G	A	17: 17,380,988		probably null	Het
Col6a3	A	T	1: 90,781,812	N1887K	unknown	Het
Csgalnact1	C	T	8: 68,461,109	S148N	probably damaging	Het
Csgalnact1	T	A	8: 68,461,110	S148C	probably damaging	Het
D10Jhu81e	T	C	10: 78,167,513	N102D	probably damaging	Het
Dnah14	A	G	1: 181,744,768	E2888G	probably benign	Het
Dnah7b	T	A	1: 46,242,204	Y2808*	probably null	Het
Dock10	A	C	1: 80,541,242	L1254*	probably null	Het
Eml2	T	C	7: 19,196,311	V511A	probably benign	Het
Eml6	A	G	11: 29,791,971		probably null	Het
Erbin	C	A	13: 103,841,247	D601Y	probably damaging	Het
Fam35a	T	C	14: 34,268,014	S312G	probably benign	Het
Farsa	A	G	8: 84,857,180	E49G	probably damaging	Het
Fzd7	A	G	1: 59,483,995	M346V	probably damaging	Het
Glg1	A	C	8: 111,200,174	S170A	possibly damaging	Het
Gm21994	T	C	2: 150,255,326	D61G	probably benign	Het
Gpx3	A	T	11: 54,907,199	I54F	probably damaging	Het
H6pd	G	A	4: 149,982,727	H401Y	probably damaging	Het
Hspb8	A	G	5: 116,422,398	S28P	probably damaging	Het
Iqub	T	A	6: 24,449,745	N707I	probably damaging	Het
Krt9	A	T	11: 100,190,814	D296E	probably damaging	Het
Lnx1	A	G	5: 74,607,880	V349A	possibly damaging	Het
Map3k6	A	T	4: 133,250,086	S915C	probably damaging	Het
Mecom	C	A	3: 29,980,568	A510S	possibly damaging	Het
Mettl14	A	G	3: 123,374,037	I224T	probably damaging	Het
Mme	T	C	3: 63,343,635		probably null	Het
Nbea	T	A	3: 56,004,806	T1187S	probably benign	Het
Ndor1	T	C	2: 25,248,142	T444A	possibly damaging	Het
Nhlrc1	A	G	13: 47,014,181	L200P	possibly damaging	Het
Npc1	G	T	18: 12,201,694	S667*	probably null	Het
Olfr1009	T	A	2: 85,721,584	Y60N	probably damaging	Het
Olfr1214	T	A	2: 88,987,377	D275V	probably benign	Het
Olfr294	C	T	7: 86,616,010	V212I	probably benign	Het
Olfr355	T	A	2: 36,927,583	H177L	possibly damaging	Het
Olfr557	T	A	7: 102,699,103	N288K	possibly damaging	Het
Pds5a	A	C	5: 65,634,287	I773R	possibly damaging	Het
Pgr	T	A	9: 8,964,838		probably null	Het
Plscr4	A	T	9: 92,490,766	M314L	probably benign	Het
Polr2m	A	G	9: 71,483,470	V46A	probably benign	Het
Ptk2b	T	A	14: 66,187,474	M174L	possibly damaging	Het
Sec31a	A	T	5: 100,386,149	F521I	probably benign	Het
Serpinb3d	T	C	1: 107,083,341	N47S	probably benign	Het
Slc17a2	C	A	13: 23,812,586	H25N	probably damaging	Het
Slc24a3	T	A	2: 145,606,830	D431E	probably benign	Het
Slc9a9	T	C	9: 94,685,138	F87L	probably benign	Het
Spata31	T	A	13: 64,917,642	S54T	possibly damaging	Het
Spata6	T	C	4: 111,774,823	S144P	probably damaging	Het
Sppl2c	A	G	11: 104,186,769	N132D	probably benign	Het
Ssu2	C	T	6: 112,374,832	G311S	probably damaging	Het
Syne1	T	A	10: 5,154,531	Q6328L	possibly damaging	Het
Tie1	T	C	4: 118,472,865	T1054A	possibly damaging	Het
Tnfaip6	T	G	2: 52,052,316	D212E	probably benign	Het
Tnxb	A	G	17: 34,690,192	T1442A	probably damaging	Het
Trim35	C	T	14: 66,308,795	T337M	probably damaging	Het
Vipr1	T	C	9: 121,669,423	V413A	probably benign	Het
Vmn1r19	C	G	6: 57,404,593	Q44E	probably damaging	Het
Zfp266	G	T	9: 20,499,281	H533Q	probably damaging	Het
Zfp689	T	C	7: 127,444,724	S245G	probably damaging	Het

Other mutations in Gm340

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB003:Gm340	UTSW	19	41582569	missense	probably benign
BB013:Gm340	UTSW	19	41582569	missense	probably benign
R0006:Gm340	UTSW	19	41584899	missense	probably benign	0.00
R0686:Gm340	UTSW	19	41582372	missense	possibly damaging	0.73
R1104:Gm340	UTSW	19	41586063	missense	probably damaging	0.99
R1278:Gm340	UTSW	19	41584683	missense	probably benign	0.07
R1606:Gm340	UTSW	19	41585074	missense	probably benign	0.35
R1833:Gm340	UTSW	19	41584948	missense	probably benign	0.00
R1905:Gm340	UTSW	19	41583574	missense	possibly damaging	0.73
R2697:Gm340	UTSW	19	41584027	missense	probably benign	0.43
R2881:Gm340	UTSW	19	41583049	missense	probably damaging	1.00
R4720:Gm340	UTSW	19	41585895	missense	probably benign	0.04
R4864:Gm340	UTSW	19	41585364	missense	probably benign
R4908:Gm340	UTSW	19	41584162	missense	probably benign	0.00
R5193:Gm340	UTSW	19	41582530	missense	probably damaging	1.00
R5215:Gm340	UTSW	19	41585932	missense	probably damaging	1.00
R5276:Gm340	UTSW	19	41585039	missense	probably damaging	0.98
R5319:Gm340	UTSW	19	41586352	missense	probably damaging	0.99
R5321:Gm340	UTSW	19	41585204	missense	probably damaging	1.00
R5432:Gm340	UTSW	19	41584603	missense	probably damaging	1.00
R5605:Gm340	UTSW	19	41582863	missense	probably damaging	1.00
R5941:Gm340	UTSW	19	41586400	missense	probably damaging	1.00
R6020:Gm340	UTSW	19	41583547	missense	possibly damaging	0.88
R6024:Gm340	UTSW	19	41583957	missense	possibly damaging	0.84
R6149:Gm340	UTSW	19	41585202	missense	probably damaging	1.00
R6260:Gm340	UTSW	19	41582370	missense	probably null	0.91
R6260:Gm340	UTSW	19	41582371	missense	possibly damaging	0.73
R7051:Gm340	UTSW	19	41585752	missense	probably benign	0.05
R7285:Gm340	UTSW	19	41584315	missense	possibly damaging	0.91
R7372:Gm340	UTSW	19	41585506	missense	probably damaging	1.00
R7762:Gm340	UTSW	19	41583667	missense	probably benign	0.02
R7833:Gm340	UTSW	19	41584585	missense	probably benign	0.02
R7926:Gm340	UTSW	19	41582569	missense	probably benign
R8164:Gm340	UTSW	19	41585410	missense	probably damaging	1.00
R8319:Gm340	UTSW	19	41582904	missense	probably damaging	1.00
R8323:Gm340	UTSW	19	41583597	missense	probably benign	0.01
R8327:Gm340	UTSW	19	41582557	missense	probably damaging	1.00
R8423:Gm340	UTSW	19	41585449	missense	possibly damaging	0.95
X0013:Gm340	UTSW	19	41584532	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCTTCTCGGAAAACAGCCCG -3'
(R):5'- TGCTGTAGGAAGTTGTACATCTACTG -3'

Sequencing Primer
(F):5'- GAAAGAGTACCCGGGGATATTTCTTC -3'
(R):5'- CTGCACATCTGCTGTAGGAAG -3'

Posted On

2018-05-21