Mutagenetix > Incidental Mutations

Incidental Mutation 'R8423:Gm340'

653331

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: 0.098) question?

Stock #

R8423 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41582370-41586536 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41585449 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 881 (I881T)

Ref Sequence

ENSEMBL: ENSMUSP00000128083 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172371
AA Change: I881T

PolyPhen 2 Score 0.951 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000128083
Gene: ENSMUSG00000090673
AA Change: I881T

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,490,910	D449G	possibly damaging	Het
Ampd1	T	C	3: 103,080,989	S83P	probably benign	Het
Bub1	G	A	2: 127,807,830	L703F	probably benign	Het
C1rb	T	A	6: 124,574,658	D242E	probably damaging	Het
Carf	T	A	1: 60,150,593	L659Q	possibly damaging	Het
Carmil3	A	G	14: 55,499,065	N662S	probably damaging	Het
Ccno	A	G	13: 112,988,144	S83G	possibly damaging	Het
Chd3	A	T	11: 69,354,426	Y1155*	probably null	Het
Clec16a	A	G	16: 10,576,663	E295G	probably benign	Het
Clnk	A	G	5: 38,794,910		probably null	Het
Clvs2	T	C	10: 33,622,859	D25G	possibly damaging	Het
Cnr2	C	T	4: 135,917,516	R302W	probably damaging	Het
Dclk3	C	T	9: 111,468,719	R444W	possibly damaging	Het
Dmxl1	T	C	18: 49,865,116	V761A	probably damaging	Het
Dnah7a	C	A	1: 53,472,904	K2999N	possibly damaging	Het
Dusp28	T	C	1: 92,907,184	S44P	probably damaging	Het
Enpep	T	G	3: 129,309,125	N394T	probably damaging	Het
Fam135a	A	T	1: 24,021,917	F1343I	probably damaging	Het
Fbxl12	C	A	9: 20,638,864	R165L	possibly damaging	Het
Fbxo40	A	T	16: 36,970,585	H54Q	probably damaging	Het
Galnt9	A	G	5: 110,596,245	D315G	probably benign	Het
Gbp4	T	A	5: 105,119,934	D482V	probably damaging	Het
Gm17175	T	A	14: 51,571,613	I99F	possibly damaging	Het
Heatr4	A	G	12: 83,980,330	F51S	probably benign	Het
Herc1	T	C	9: 66,508,160	S4806P	probably damaging	Het
Hoxc11	G	A	15: 102,954,742	V73I	possibly damaging	Het
Knl1	T	G	2: 119,070,032	I738S	probably damaging	Het
Lipt2	T	C	7: 100,160,243	F179S	probably damaging	Het
Lrrc8b	G	A	5: 105,480,756	V323M	probably damaging	Het
Ltbp1	T	C	17: 75,292,857	S665P	probably benign	Het
Miga1	A	T	3: 152,322,408	D161E	probably benign	Het
Mynn	A	G	3: 30,603,784	T84A	probably benign	Het
Olfr1248	A	T	2: 89,617,987	D68E	probably damaging	Het
Olfr159	T	C	4: 43,770,598	S138G	possibly damaging	Het
Olfr401	T	C	11: 74,121,666	F126L	probably benign	Het
Pik3r3	C	T	4: 116,222,375	S23L	probably benign	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Plscr4	C	T	9: 92,490,790	R322*	probably null	Het
Ralgapa1	A	G	12: 55,659,062	S1892P	probably damaging	Het
Slc6a18	T	A	13: 73,665,574	Q540L	probably benign	Het
Tfap2a	A	T	13: 40,719,230	N323K	possibly damaging	Het
Tgm1	A	T	14: 55,705,643	M580K	probably benign	Het
Tnrc6b	G	A	15: 80,929,418	G1792D	unknown	Het
Trim66	T	A	7: 109,475,392	Q554L	possibly damaging	Het
Ttc28	G	A	5: 111,233,341	D1240N	probably benign	Het
Vmn1r238	G	T	18: 3,123,365	C16*	probably null	Het
Vmn1r6	G	A	6: 57,002,510	M52I	probably benign	Het
Zfp61	A	G	7: 24,292,034	F231L	probably benign	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
R6476:Gm340	UTSW	19	41583079	missense	probably benign	0.04
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
X0013:Gm340	UTSW	19	41584532	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TTGGAGAAGGAAGCTCAGCC -3'
(R):5'- TCAGGATTCTCTCGTAGTTTAGCCC -3'

Sequencing Primer
(F):5'- GGAAGCTCAGCCAACGG -3'
(R):5'- GGAATGGCTCCAGGGAATTTC -3'

Posted On

2020-10-20