Mutagenetix > Incidental Mutation

Incidental Mutation 'R0533:Gm13089'

49308

Institutional Source

Beutler Lab

Gene Symbol

Gm13089

Ensembl Gene

ENSMUSG00000070617

Gene Name

predicted gene 13089

Synonyms

MMRRC Submission

038725-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R0533 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

143696500-143702711 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 143698020 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 284 (C284*)

Ref Sequence

ENSEMBL: ENSMUSP00000073224 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073532]

AlphaFold

A2AGW7

Predicted Effect

probably null
Transcript: ENSMUST00000073532
AA Change: C284*

SMART Domains

Protein: ENSMUSP00000073224
Gene: ENSMUSG00000070617
AA Change: C284*

Domain	Start	End	E-Value	Type
low complexity region	204	216	N/A	INTRINSIC
low complexity region	331	343	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.1%
3x: 98.2%
10x: 96.0%
20x: 91.5%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadat	T	G	8: 60,531,763		probably benign	Het
Abcb1b	A	T	5: 8,864,113		probably null	Het
Adcy10	A	G	1: 165,564,023	N1283S	probably benign	Het
Adgrb1	T	A	15: 74,541,559	W531R	probably damaging	Het
Ago4	A	G	4: 126,516,860	V246A	probably benign	Het
Arid5b	A	T	10: 68,186,033	D242E	probably damaging	Het
Arpp21	A	G	9: 112,126,505	V522A	probably benign	Het
Atg4b	T	A	1: 93,784,910		probably benign	Het
Capn12	T	C	7: 28,887,683	F359S	possibly damaging	Het
Ccdc88c	A	T	12: 100,954,282	I360N	probably damaging	Het
Clic3	A	G	2: 25,458,138	Y99C	probably damaging	Het
Cux1	T	C	5: 136,307,859	E925G	probably damaging	Het
Dnah10	G	A	5: 124,775,250		probably null	Het
Dnah17	A	G	11: 118,110,537	V860A	possibly damaging	Het
Etv5	C	T	16: 22,436,075		probably benign	Het
Fam83a	T	A	15: 58,009,811	N345K	probably benign	Het
G3bp1	T	C	11: 55,498,626	F383L	probably damaging	Het
Gpm6a	A	G	8: 55,055,374		probably null	Het
Grid1	T	A	14: 35,309,385	Y312N	possibly damaging	Het
Gstm4	T	C	3: 108,043,525	N51S	probably benign	Het
Hid1	A	T	11: 115,348,809	I765N	probably damaging	Het
Hmmr	A	G	11: 40,709,989	V518A	unknown	Het
Itgb6	A	G	2: 60,669,197	V84A	probably benign	Het
Kbtbd4	A	G	2: 90,907,604	K233E	probably benign	Het
Kif15	A	T	9: 123,009,433		probably benign	Het
Klre1	T	C	6: 129,583,193	S143P	probably damaging	Het
Krt81	T	C	15: 101,461,389	D216G	probably benign	Het
Mctp2	G	T	7: 72,080,822	H868Q	probably benign	Het
Morc2b	G	C	17: 33,135,932	Y955*	probably null	Het
Myog	A	C	1: 134,290,473	N140H	possibly damaging	Het
Myrf	G	C	19: 10,218,162	T428S	probably benign	Het
Naip2	A	C	13: 100,161,782	I582S	probably benign	Het
Neil3	A	T	8: 53,638,775		probably null	Het
Nrg1	T	C	8: 31,831,245		probably null	Het
Olfr681	G	A	7: 105,122,350	V298I	probably benign	Het
Olfr689	A	T	7: 105,314,372	M123L	probably benign	Het
Olfr99	A	T	17: 37,280,291	L43*	probably null	Het
Pramef25	A	T	4: 143,950,720	D96E	possibly damaging	Het
Ptger2	T	A	14: 44,988,982	N6K	possibly damaging	Het
Ryr1	T	A	7: 29,078,780	E2097V	probably damaging	Het
Sel1l	A	T	12: 91,820,094	F397Y	probably damaging	Het
Skint5	A	G	4: 113,827,867	V551A	unknown	Het
Slc39a12	A	G	2: 14,400,331	T245A	probably benign	Het
Syne1	C	T	10: 5,358,438	V706I	probably benign	Het
Tbc1d8	G	T	1: 39,372,774	Q994K	possibly damaging	Het
Tnrc6b	C	T	15: 80,876,653	T187I	probably benign	Het
Ttll6	G	A	11: 96,154,756	A600T	probably benign	Het
Ust	T	C	10: 8,248,080		probably benign	Het
Vmn2r71	GT	GTT	7: 85,619,218		probably null	Het
Vstm2a	C	T	11: 16,263,041	A142V	probably damaging	Het
Wfs1	T	A	5: 36,973,722		probably benign	Het
Wrap73	G	A	4: 154,151,649	G145D	probably damaging	Het
Wrap73	G	A	4: 154,156,154	V368M	possibly damaging	Het
Xrra1	T	A	7: 99,875,145		probably null	Het
Zfhx2	C	T	14: 55,064,090	V2146I	probably benign	Het
Zfp335	A	T	2: 164,907,922	L185*	probably null	Het

Other mutations in Gm13089

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01720:Gm13089	APN	4	143696840	utr 3 prime	probably benign
IGL02087:Gm13089	APN	4	143697074	missense	probably damaging	0.96
IGL02296:Gm13089	APN	4	143698481	nonsense	probably null
IGL02902:Gm13089	APN	4	143698343	missense	probably damaging	1.00
IGL02903:Gm13089	APN	4	143699166	missense	probably benign	0.04
IGL02962:Gm13089	APN	4	143697340	missense	probably benign	0.28
IGL03351:Gm13089	APN	4	143697088	missense	possibly damaging	0.80
R0122:Gm13089	UTSW	4	143698404	missense	probably benign	0.44
R0609:Gm13089	UTSW	4	143698503	missense	probably benign	0.00
R0743:Gm13089	UTSW	4	143698564	missense	probably damaging	0.97
R0744:Gm13089	UTSW	4	143698486	missense	probably benign	0.19
R0833:Gm13089	UTSW	4	143698486	missense	probably benign	0.19
R1052:Gm13089	UTSW	4	143696907	missense	possibly damaging	0.81
R1690:Gm13089	UTSW	4	143698123	missense	probably benign	0.03
R1764:Gm13089	UTSW	4	143698270	missense	probably benign	0.14
R1896:Gm13089	UTSW	4	143698144	missense	probably benign	0.11
R2084:Gm13089	UTSW	4	143699350	missense	probably damaging	1.00
R2178:Gm13089	UTSW	4	143698042	missense	possibly damaging	0.95
R2888:Gm13089	UTSW	4	143696890	missense	probably benign	0.00
R3759:Gm13089	UTSW	4	143697151	missense	probably damaging	1.00
R4193:Gm13089	UTSW	4	143698333	missense	probably damaging	1.00
R4380:Gm13089	UTSW	4	143698286	missense	probably benign	0.21
R4385:Gm13089	UTSW	4	143698014	critical splice donor site	probably null
R4513:Gm13089	UTSW	4	143698148	missense	probably benign	0.00
R4647:Gm13089	UTSW	4	143699344	missense	probably benign	0.00
R4920:Gm13089	UTSW	4	143699283	missense	probably benign	0.05
R4994:Gm13089	UTSW	4	143698369	missense	possibly damaging	0.94
R5197:Gm13089	UTSW	4	143698062	missense	possibly damaging	0.86
R6005:Gm13089	UTSW	4	143698432	missense	probably benign	0.00
R6073:Gm13089	UTSW	4	143698268	missense	probably damaging	0.99
R6197:Gm13089	UTSW	4	143697316	missense	possibly damaging	0.90
R6264:Gm13089	UTSW	4	143699152	missense	possibly damaging	0.50
R6821:Gm13089	UTSW	4	143699304	nonsense	probably null
R6923:Gm13089	UTSW	4	143699106	missense	probably benign	0.06
R7034:Gm13089	UTSW	4	143697328	missense	probably damaging	1.00
R7140:Gm13089	UTSW	4	143698432	missense	probably benign	0.01
R7298:Gm13089	UTSW	4	143698505	missense	probably benign	0.23
R7529:Gm13089	UTSW	4	143702674
R7766:Gm13089	UTSW	4	143699239	missense	probably damaging	0.98
R7774:Gm13089	UTSW	4	143697106	missense	possibly damaging	0.89
R7816:Gm13089	UTSW	4	143698194	missense	probably benign	0.00
R8137:Gm13089	UTSW	4	143699265	missense	probably damaging	1.00
R8937:Gm13089	UTSW	4	143696992	missense	probably damaging	1.00
R8982:Gm13089	UTSW	4	143698316	missense	probably benign	0.01
R9016:Gm13089	UTSW	4	143697329	missense	possibly damaging	0.76
R9100:Gm13089	UTSW	4	143699157	missense	probably benign	0.04
R9200:Gm13089	UTSW	4	143697286	missense	possibly damaging	0.90
R9257:Gm13089	UTSW	4	143699115	missense	probably damaging	1.00
R9471:Gm13089	UTSW	4	143697179	missense	probably damaging	1.00
R9517:Gm13089	UTSW	4	143698360	missense	possibly damaging	0.95
Z1088:Gm13089	UTSW	4	143698080	missense	probably benign
Z1176:Gm13089	UTSW	4	143696945	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCAGAGCCCATCTTCCCTGATATGC -3'
(R):5'- GGGCAGCCTTGATGAATGTGCTAC -3'

Sequencing Primer
(F):5'- ATCTTCCCTGATATGCTATGTCTC -3'
(R):5'- GATTCAGGGCTCAATCAACG -3'

Posted On

2013-06-12