Mutagenetix > Incidental Mutation

Incidental Mutation 'R7103:Gm9573'

551021

Institutional Source

Beutler Lab

Gene Symbol

Gm9573

Ensembl Gene

ENSMUSG00000090588

Gene Name

predicted gene 9573

Synonyms

Muc21, epiglycanin

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.130) question?

Stock #

R7103 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

35617923-35626637 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 35621540 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 585 (A585S)

Ref Sequence

ENSEMBL: ENSMUSP00000130987 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000164502] [ENSMUST00000174521]

AlphaFold

F7C950

Predicted Effect

unknown
Transcript: ENSMUST00000164502
AA Change: A585S

SMART Domains

Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: A585S

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	26	39	N/A	INTRINSIC
low complexity region	42	59	N/A	INTRINSIC
low complexity region	76	144	N/A	INTRINSIC
low complexity region	149	578	N/A	INTRINSIC
low complexity region	580	653	N/A	INTRINSIC
low complexity region	655	1179	N/A	INTRINSIC
low complexity region	1183	1373	N/A	INTRINSIC
low complexity region	1383	1436	N/A	INTRINSIC
low complexity region	1438	1479	N/A	INTRINSIC
Pfam:Epiglycanin_C	1518	1605	3.8e-22	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174521

SMART Domains

Protein: ENSMUSP00000134221
Gene: ENSMUSG00000090509

Domain	Start	End	E-Value	Type
Pfam:SFTA2	80	117	9.2e-18	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts2	A	G	11: 50,737,354	T294A	probably damaging	Het
Adamtsl2	G	A	2: 27,107,461	V893I	probably damaging	Het
Amph	T	A	13: 19,149,738	D656E	probably benign	Het
Aoah	T	C	13: 21,023,315	F568S	probably damaging	Het
Atr	G	A	9: 95,865,372	G236S	probably damaging	Het
Brd3	T	A	2: 27,450,394	Q601L	probably damaging	Het
Ccar2	T	C	14: 70,141,977	E524G	probably damaging	Het
Cog2	T	C	8: 124,541,114		probably null	Het
Csnka2ip	C	A	16: 64,478,757	V415F	unknown	Het
Dmp1	A	T	5: 104,211,863	D135V	probably damaging	Het
Dtna	T	C	18: 23,653,379		probably null	Het
Endou	A	G	15: 97,718,929	S238P	probably damaging	Het
Ep400	T	A	5: 110,733,785	E779D	unknown	Het
Fcgbp	A	G	7: 28,084,962	E149G	probably benign	Het
G6pc	C	A	11: 101,374,587		probably null	Het
Gm13119	C	T	4: 144,363,727	R446C	probably benign	Het
Gmeb1	T	C	4: 132,234,868	H160R	probably damaging	Het
Gramd1b	T	C	9: 40,401,606	Y22C	unknown	Het
Hcrtr2	C	T	9: 76,254,511	G199D	probably benign	Het
Hoxb2	T	C	11: 96,353,621	F353L	possibly damaging	Het
Itpr2	C	A	6: 146,325,074	V1391F	probably damaging	Het
Jakmip2	T	A	18: 43,540,583		probably null	Het
Kcnmb4	T	C	10: 116,473,259	Y88C	possibly damaging	Het
Kif1a	T	C	1: 93,077,785	Y89C	probably damaging	Het
Kif23	T	A	9: 61,919,892	K892N	probably damaging	Het
Lama3	T	A	18: 12,531,879	S646T	probably benign	Het
Lig3	T	A	11: 82,797,312	M709K	probably benign	Het
Mgea5	G	A	19: 45,783,166		probably benign	Het
Mindy3	C	A	2: 12,401,074	A137S	possibly damaging	Het
Mis18bp1	T	C	12: 65,149,283	E569G	possibly damaging	Het
Misp	T	A	10: 79,827,165	L472Q	probably damaging	Het
Mrps5	A	T	2: 127,601,410	T303S	probably damaging	Het
Msh3	T	G	13: 92,274,800	I630L	probably benign	Het
Myo16	A	G	8: 10,569,673	Y1408C	unknown	Het
N4bp2	T	C	5: 65,806,846	V746A	probably benign	Het
Olfr1225	A	G	2: 89,170,483	I243T	possibly damaging	Het
Olfr1423	A	G	19: 12,036,388	M118T	probably damaging	Het
Olfr477	A	G	7: 107,990,598	T78A	possibly damaging	Het
Ostf1	C	T	19: 18,596,351	M44I	probably null	Het
Pik3c2b	T	G	1: 133,105,974	L1572R	probably damaging	Het
Pilra	T	C	5: 137,831,226	D192G	possibly damaging	Het
Pkhd1l1	A	G	15: 44,573,631	I3462V	probably benign	Het
Plekhh1	A	G	12: 79,066,655	D619G	probably benign	Het
Ptprb	T	A	10: 116,338,813	Y797N	probably damaging	Het
Rb1	T	C	14: 73,262,644	D521G	probably damaging	Het
Rnf17	T	G	14: 56,471,306	F728V	possibly damaging	Het
Slc16a4	T	C	3: 107,311,471	S463P	probably damaging	Het
Slc4a1	A	T	11: 102,353,867	I634K	probably damaging	Het
Slc4a1ap	T	C	5: 31,543,857	V634A	probably benign	Het
Spam1	A	G	6: 24,800,584	M441V	probably benign	Het
Teddm3	A	C	16: 21,152,979	L280*	probably null	Het
Tmem231	T	C	8: 111,918,885		probably null	Het
Tom1l1	T	C	11: 90,671,081		probably null	Het
Topors	C	T	4: 40,261,706	G526D	probably benign	Het
Trpm6	A	T	19: 18,813,547	I649F	possibly damaging	Het
Ttc16	T	A	2: 32,774,428	M66L	probably benign	Het
Tubgcp6	A	G	15: 89,101,029	F1619L	probably damaging	Het
Vps13d	G	T	4: 145,115,492	A2619E		Het
Vps8	G	A	16: 21,526,441	R838H	probably damaging	Het
Vwde	T	A	6: 13,215,800	M86L	probably benign	Het
Zfp64	A	T	2: 168,926,437	D418E	probably benign	Het
Zfp952	C	T	17: 33,003,632	P362S	possibly damaging	Het
Zglp1	T	C	9: 21,066,072	E149G	probably benign	Het

Other mutations in Gm9573

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Gm9573	UTSW	17	35622633	intron	probably benign
FR4304:Gm9573	UTSW	17	35622121	intron	probably benign
R0334:Gm9573	UTSW	17	35622722	intron	probably benign
R0946:Gm9573	UTSW	17	35618213	missense	probably benign	0.32
R1117:Gm9573	UTSW	17	35620028	intron	probably benign
R1345:Gm9573	UTSW	17	35621597	intron	probably benign
R1697:Gm9573	UTSW	17	35620648	intron	probably benign
R1750:Gm9573	UTSW	17	35621048	intron	probably benign
R1756:Gm9573	UTSW	17	35619239	intron	probably benign
R1946:Gm9573	UTSW	17	35622524	intron	probably benign
R1978:Gm9573	UTSW	17	35622965	intron	probably benign
R1991:Gm9573	UTSW	17	35618708	missense	probably benign	0.32
R1992:Gm9573	UTSW	17	35618708	missense	probably benign	0.32
R2063:Gm9573	UTSW	17	35621405	intron	probably benign
R2356:Gm9573	UTSW	17	35621671	intron	probably benign
R2866:Gm9573	UTSW	17	35619707	intron	probably benign
R3826:Gm9573	UTSW	17	35621612	intron	probably benign
R4020:Gm9573	UTSW	17	35620061	intron	probably benign
R4474:Gm9573	UTSW	17	35620604	intron	probably benign
R4677:Gm9573	UTSW	17	35619707	intron	probably benign
R4786:Gm9573	UTSW	17	35619329	intron	probably benign
R5071:Gm9573	UTSW	17	35620552	intron	probably benign
R5173:Gm9573	UTSW	17	35620741	intron	probably benign
R5283:Gm9573	UTSW	17	35621332	intron	probably benign
R5446:Gm9573	UTSW	17	35622503	intron	probably benign
R5542:Gm9573	UTSW	17	35622503	intron	probably benign
R5716:Gm9573	UTSW	17	35620783	intron	probably benign
R5913:Gm9573	UTSW	17	35623231	intron	probably benign
R6011:Gm9573	UTSW	17	35622182	intron	probably benign
R6198:Gm9573	UTSW	17	35620916	intron	probably benign
R6394:Gm9573	UTSW	17	35620166	intron	probably benign
R6786:Gm9573	UTSW	17	35623165	intron	probably benign
R6940:Gm9573	UTSW	17	35623226	intron	probably benign
R7082:Gm9573	UTSW	17	35621201	missense	unknown
R7110:Gm9573	UTSW	17	35622618	intron	probably benign
R7139:Gm9573	UTSW	17	35622633	intron	probably benign
R7165:Gm9573	UTSW	17	35621978	missense	unknown
R7200:Gm9573	UTSW	17	35622633	intron	probably benign
R7204:Gm9573	UTSW	17	35621213	intron	probably benign
R7289:Gm9573	UTSW	17	35618869	missense	unknown
R7290:Gm9573	UTSW	17	35618869	missense	unknown
R7295:Gm9573	UTSW	17	35618869	missense	unknown
R7319:Gm9573	UTSW	17	35622043	intron	probably benign
R7462:Gm9573	UTSW	17	35620676	missense	unknown
R7529:Gm9573	UTSW	17	35619231	missense	unknown
R7718:Gm9573	UTSW	17	35622836	missense	unknown
R7762:Gm9573	UTSW	17	35622085	missense	unknown
R7788:Gm9573	UTSW	17	35618906	missense	unknown
R7798:Gm9573	UTSW	17	35621254	missense	unknown
R7831:Gm9573	UTSW	17	35618759	missense	unknown
R7896:Gm9573	UTSW	17	35620025	missense	unknown
R7899:Gm9573	UTSW	17	35620601	intron	probably benign
R7932:Gm9573	UTSW	17	35622633	intron	probably benign
R8025:Gm9573	UTSW	17	35620987	intron	probably benign
R8077:Gm9573	UTSW	17	35619736	intron	probably benign
R8090:Gm9573	UTSW	17	35621725	missense	unknown
R8169:Gm9573	UTSW	17	35621180	missense	unknown
R8184:Gm9573	UTSW	17	35622830	missense	unknown
R8209:Gm9573	UTSW	17	35619707	intron	probably benign
R8226:Gm9573	UTSW	17	35619707	intron	probably benign
R8464:Gm9573	UTSW	17	35622206	intron	probably benign
R8670:Gm9573	UTSW	17	35621648	missense	unknown
R8783:Gm9573	UTSW	17	35619983	missense	unknown
R8856:Gm9573	UTSW	17	35620973	missense	unknown
R9155:Gm9573	UTSW	17	35621239	missense	unknown
R9214:Gm9573	UTSW	17	35620946	missense	unknown
R9353:Gm9573	UTSW	17	35619653	missense	unknown
R9618:Gm9573	UTSW	17	35622043	intron	probably benign
R9621:Gm9573	UTSW	17	35621828	missense	unknown
R9679:Gm9573	UTSW	17	35619599	missense	unknown
RF025:Gm9573	UTSW	17	35622879	intron	probably benign
Z1176:Gm9573	UTSW	17	35621245	missense	unknown
Z1177:Gm9573	UTSW	17	35620925	missense	unknown
Z1177:Gm9573	UTSW	17	35621059	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGGCAGTGCTGGATTCAGTG -3'
(R):5'- AGCACTGCCTCAAGATCTAC -3'

Sequencing Primer
(F):5'- CTGGATTCAGTGGTGGTCAG -3'
(R):5'- CTACCACCACTGCATCTAGC -3'

Posted On

2019-05-15