Mutagenetix > Incidental Mutation

Incidental Mutation 'R9029:Gm5460'

686956

Institutional Source

Beutler Lab

Gene Symbol

Gm5460

Ensembl Gene

ENSMUSG00000072624

Gene Name

predicted gene 5460

Synonyms

MMRRC Submission

068858-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R9029 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

33738252-33769071 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 33739326 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 103 (S103T)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000227383] [ENSMUST00000227795]

AlphaFold

Q3UQ97

Predicted Effect

probably benign
Transcript: ENSMUST00000227383

Predicted Effect

probably benign
Transcript: ENSMUST00000227795

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	A	T	3: 96,591,460 (GRCm39)	K582M	probably benign	Het
Catsper3	T	G	13: 55,954,147 (GRCm39)	V305G	probably damaging	Het
Chd9	G	A	8: 91,683,198 (GRCm39)	R546Q	unknown	Het
Cnot6l	G	A	5: 96,246,136 (GRCm39)	T171I	probably benign	Het
Cpne3	A	G	4: 19,535,292 (GRCm39)	Y247H	possibly damaging	Het
Cramp1	C	G	17: 25,232,884 (GRCm39)	A39P	probably damaging	Het
Cyp26b1	A	T	6: 84,554,035 (GRCm39)	V194E	probably benign	Het
Dchs1	A	G	7: 105,402,919 (GRCm39)	S3208P	probably benign	Het
Dhrs3	A	G	4: 144,653,755 (GRCm39)	Y292C	probably damaging	Het
Eif3l	T	C	15: 78,968,412 (GRCm39)	V227A	probably damaging	Het
Eif4enif1	T	C	11: 3,174,716 (GRCm39)	V290A	probably damaging	Het
Epb41l4a	A	C	18: 34,012,042 (GRCm39)	Y159*	probably null	Het
Gsto1	A	T	19: 47,852,837 (GRCm39)	Y224F	probably benign	Het
Hpd	G	A	5: 123,313,973 (GRCm39)	T271M	probably damaging	Het
Ift74	T	C	4: 94,506,271 (GRCm39)	I18T	probably benign	Het
Kif12	A	G	4: 63,087,704 (GRCm39)	C260R	probably damaging	Het
Klk15	C	T	7: 43,587,790 (GRCm39)	H73Y	possibly damaging	Het
Luc7l3	A	G	11: 94,188,676 (GRCm39)	V201A	unknown	Het
Mcrip2	T	C	17: 26,082,989 (GRCm39)	E146G	probably damaging	Het
Mctp1	T	A	13: 76,836,741 (GRCm39)	Y323N	probably benign	Het
Micu2	T	A	14: 58,156,363 (GRCm39)	I370F	probably damaging	Het
Mug2	T	A	6: 122,061,328 (GRCm39)	V1416E	probably damaging	Het
Mup3	T	C	4: 62,003,540 (GRCm39)	N110D	probably damaging	Het
Nav3	C	T	10: 109,699,613 (GRCm39)	D294N	possibly damaging	Het
Nphs2	G	A	1: 156,140,592 (GRCm39)	A110T	probably benign	Het
Or1a1	T	C	11: 74,086,563 (GRCm39)	I78T	possibly damaging	Het
Or5t7	A	G	2: 86,506,831 (GRCm39)	M282T	probably damaging	Het
Or6c215	G	T	10: 129,637,926 (GRCm39)	P156Q	probably damaging	Het
Otof	C	T	5: 30,527,419 (GRCm39)		probably null	Het
Pgrmc2	G	T	3: 41,037,105 (GRCm39)	R109S	probably benign	Het
Plb1	G	A	5: 32,439,079 (GRCm39)	V214I	probably damaging	Het
Ppp2r5d	C	T	17: 46,998,906 (GRCm39)	S52N	probably benign	Het
Rrp12	C	A	19: 41,859,718 (GRCm39)	E1082*	probably null	Het
Skint3	A	G	4: 112,111,151 (GRCm39)	E92G	probably damaging	Het
Slc12a1	C	G	2: 124,996,004 (GRCm39)	N52K	probably benign	Het
Smu1	A	G	4: 40,738,361 (GRCm39)	Y458H	probably damaging	Het
Spsb3	C	T	17: 25,110,506 (GRCm39)	P317S	unknown	Het
Ssc5d	A	T	7: 4,930,919 (GRCm39)	Q167L	probably damaging	Het
Ssh2	T	C	11: 77,328,454 (GRCm39)	V340A	probably damaging	Het
Stag3	G	A	5: 138,296,296 (GRCm39)	R453H	probably damaging	Het
Svil	T	A	18: 5,056,239 (GRCm39)	F371I	probably benign	Het
Tas2r140	A	C	6: 133,032,181 (GRCm39)	S192R	possibly damaging	Het
Tdrp	T	C	8: 14,003,840 (GRCm39)	I166V	possibly damaging	Het
Tgm3	C	A	2: 129,871,680 (GRCm39)	Q269K	probably benign	Het
Thsd7b	G	A	1: 130,087,426 (GRCm39)	C1181Y	probably damaging	Het
Tinag	A	T	9: 76,934,296 (GRCm39)		probably benign	Het
Tnrc6b	T	C	15: 80,763,179 (GRCm39)	V227A	possibly damaging	Het
Tox3	A	C	8: 90,996,864 (GRCm39)	L133R	possibly damaging	Het
Tshz1	A	T	18: 84,031,639 (GRCm39)	I923N	probably damaging	Het
Vps13c	T	A	9: 67,855,429 (GRCm39)	V2498D	probably damaging	Het
Vps41	T	A	13: 18,994,723 (GRCm39)		probably null	Het
Xylt2	T	C	11: 94,555,462 (GRCm39)	D850G	probably damaging	Het
Zfp229	T	A	17: 21,964,321 (GRCm39)	S184T	possibly damaging	Het
Zfp518a	G	A	19: 40,901,225 (GRCm39)	V385I	probably benign	Het
Zfp595	C	A	13: 67,468,989 (GRCm39)	M12I	probably benign	Het
Zfp750	T	C	11: 121,403,149 (GRCm39)	Q533R	probably benign	Het

Other mutations in Gm5460

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02336:Gm5460	APN	14	33,765,909 (GRCm39)	splice site	probably benign
R2483:Gm5460	UTSW	14	33,767,775 (GRCm39)	missense	possibly damaging	0.83
R4529:Gm5460	UTSW	14	33,767,769 (GRCm39)	missense	probably damaging	0.96
R5688:Gm5460	UTSW	14	33,767,752 (GRCm39)	missense	possibly damaging	0.82
R7123:Gm5460	UTSW	14	33,763,982 (GRCm39)	missense	unknown
R7394:Gm5460	UTSW	14	33,765,879 (GRCm39)	missense	possibly damaging	0.81
R7420:Gm5460	UTSW	14	33,758,714 (GRCm39)	missense	probably damaging	0.98
R7756:Gm5460	UTSW	14	33,757,114 (GRCm39)	missense	probably benign	0.22
R7758:Gm5460	UTSW	14	33,757,114 (GRCm39)	missense	probably benign	0.22
R8220:Gm5460	UTSW	14	33,767,876 (GRCm39)	missense	probably damaging	0.96
R8491:Gm5460	UTSW	14	33,761,740 (GRCm39)	missense	probably damaging	0.97
R8549:Gm5460	UTSW	14	33,758,892 (GRCm39)	missense	possibly damaging	0.80
R8737:Gm5460	UTSW	14	33,739,149 (GRCm39)	missense	unknown
R9199:Gm5460	UTSW	14	33,758,393 (GRCm39)	missense	possibly damaging	0.92
R9432:Gm5460	UTSW	14	33,767,769 (GRCm39)	missense	possibly damaging	0.90
Z1177:Gm5460	UTSW	14	33,767,791 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- GTCCCTAAGTGCAGATAGAGGC -3'
(R):5'- CCAAGGGTTATCTAGGACCAGG -3'

Sequencing Primer
(F):5'- TGAGGGGTGGCTAGAACTTAG -3'
(R):5'- GGCAGAAAGGACCACTCACTTG -3'

Posted On

2021-11-19