Mutagenetix > Incidental Mutation

Incidental Mutation 'R7289:Gm9573'

566281

Institutional Source

Beutler Lab

Gene Symbol

Gm9573

Ensembl Gene

ENSMUSG00000090588

Gene Name

predicted gene 9573

Synonyms

Muc21, epiglycanin

MMRRC Submission

045396-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.133) question?

Stock #

R7289 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35617923-35626637 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 35618869 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 1475 (A1475V)

Ref Sequence

ENSEMBL: ENSMUSP00000130987 (fasta)

Gene Model

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

AlphaFold

F7C950

Predicted Effect

unknown
Transcript: ENSMUST00000164502
AA Change: A1475V

SMART Domains

Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: A1475V

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700022I11Rik	A	T	4: 42,972,379	T571S	probably benign	Het
1700022I11Rik	A	T	4: 42,973,252	I862F	possibly damaging	Het
4930563D23Rik	T	C	16: 92,320,822	I193V	probably damaging	Het
Aars2	G	A	17: 45,507,624	D112N	probably damaging	Het
Abca7	T	A	10: 80,009,944	I1580K	probably damaging	Het
Aebp1	A	G	11: 5,865,059	D234G	probably damaging	Het
Agap1	T	A	1: 89,455,431	M1K	probably null	Het
Agrn	A	T	4: 156,178,932	L345H	probably damaging	Het
Amfr	A	G	8: 93,999,126	M209T	possibly damaging	Het
Angel2	G	A	1: 190,941,174	R338H	possibly damaging	Het
Ankrd27	C	T	7: 35,631,249	A866V	probably damaging	Het
Apc	G	A	18: 34,315,271	R1740Q	probably damaging	Het
Arhgap32	A	T	9: 32,256,937	S739C	possibly damaging	Het
Arhgap32	G	C	9: 32,256,938	S739T	probably benign	Het
Arhgef2	C	T	3: 88,635,885	S418L	probably benign	Het
Arhgef25	T	C	10: 127,183,772	T472A	possibly damaging	Het
Atrnl1	C	T	19: 57,650,414	S328F	probably benign	Het
Bahcc1	C	T	11: 120,280,174	A1514V	probably benign	Het
Calcoco2	C	T	11: 96,099,997	E305K	unknown	Het
Cdc42bpa	A	T	1: 180,061,797	K203*	probably null	Het
Cmc1	A	T	9: 118,075,182	I47N	possibly damaging	Het
Cntln	A	G	4: 85,046,303	E656G	possibly damaging	Het
Cyr61	C	T	3: 145,648,673	W161*	probably null	Het
Dcun1d3	T	C	7: 119,859,641	K57R	possibly damaging	Het
Ddx23	T	C	15: 98,648,611	E559G	probably damaging	Het
Dennd6a	G	A	14: 26,612,038	R367Q	probably damaging	Het
Desi2	A	T	1: 178,256,136		probably benign	Het
Dido1	T	C	2: 180,659,631	D2160G	unknown	Het
Epb41	A	G	4: 131,991,209		probably null	Het
Esrrb	T	A	12: 86,470,557		probably null	Het
Fabp1	C	A	6: 71,203,127	T94N	probably benign	Het
Fam120a	A	T	13: 48,892,006	C785S	probably damaging	Het
Foxc1	A	G	13: 31,807,260	Y18C	probably damaging	Het
Fshr	T	C	17: 88,985,844	T469A	probably benign	Het
Gm11639	T	C	11: 105,038,358	M4838T	probably benign	Het
Gm14399	T	A	2: 175,130,411	H517L	unknown	Het
Gm39115	G	T	7: 142,135,560	Q159K	unknown	Het
Gm7347	T	A	5: 26,057,308	I72F	possibly damaging	Het
Hmcn1	A	G	1: 150,683,715	V2395A	possibly damaging	Het
Ighv5-17	T	G	12: 113,859,238	T88P	probably damaging	Het
Insm2	T	A	12: 55,600,544	Y358N	probably damaging	Het
Kazn	A	T	4: 142,117,175	L409Q		Het
Kcnj5	A	C	9: 32,322,749	L90R	probably damaging	Het
Kcnv2	A	T	19: 27,333,684	T484S	probably damaging	Het
Kdm3b	T	C	18: 34,794,504	Y140H	probably benign	Het
Kif1bp	A	C	10: 62,566,116	C261W	probably damaging	Het
Krt25	C	T	11: 99,321,272	A180T	probably benign	Het
Mmp1a	A	G	9: 7,467,293	E290G	probably damaging	Het
Nr3c1	T	C	18: 39,414,601	T755A	probably benign	Het
Nr3c1	A	T	18: 39,422,733	I517N	probably benign	Het
Nxpe2	A	G	9: 48,323,039		probably null	Het
Oaz1	C	A	10: 80,826,839	T27K	possibly damaging	Het
Olfr1053	A	G	2: 86,315,025	M87T	probably benign	Het
Olfr1093	G	T	2: 86,786,690	C320F	probably benign	Het
Olfr1178	A	T	2: 88,391,706	H153L	probably damaging	Het
Olfr1336	T	A	7: 6,460,778	W90R	probably benign	Het
Olfr284	A	G	15: 98,340,062	V309A	probably damaging	Het
Olfr561	T	C	7: 102,775,427	I301T	probably damaging	Het
Pafah2	A	T	4: 134,419,997	K319M	probably damaging	Het
Pask	A	T	1: 93,331,587	V236E	probably damaging	Het
Pcdh1	T	C	18: 38,189,913	T956A	probably damaging	Het
Pcdhb18	C	A	18: 37,490,647	N343K	probably damaging	Het
Pcsk2	A	T	2: 143,690,423	I164F	probably damaging	Het
Phf1	T	C	17: 26,935,315	Y169H	probably damaging	Het
Pkdrej	T	A	15: 85,821,100	I212F	probably benign	Het
Pnkp	T	A	7: 44,858,690	W146R	probably damaging	Het
Prkcb	A	T	7: 122,544,687	I325F	probably benign	Het
Ptpn21	C	T	12: 98,704,191	D239N	probably benign	Het
Ptprb	A	G	10: 116,328,165	T626A	probably damaging	Het
Pttg1	T	C	11: 43,421,089	N180D	probably benign	Het
Raly	G	A	2: 154,861,854	R115Q	probably damaging	Het
Rims2	A	T	15: 39,437,718	M474L	probably benign	Het
Sash1	A	T	10: 8,730,196	I810N	probably damaging	Het
Scnn1g	T	A	7: 121,738,081	L55*	probably null	Het
Sema6b	A	T	17: 56,125,573	D543E	possibly damaging	Het
Serpina11	C	T	12: 103,986,502	G5E	unknown	Het
Sesn3	A	T	9: 14,276,552	M1L	probably benign	Het
Sez6	T	A	11: 77,974,323	I632N	possibly damaging	Het
Sgo2b	A	T	8: 63,941,158	I49N	probably damaging	Het
Slc30a2	A	T	4: 134,344,213	I86F	possibly damaging	Het
Slc38a6	T	A	12: 73,287,012	W30R	probably benign	Het
Stk31	T	G	6: 49,438,459	V576G	probably benign	Het
Szt2	G	A	4: 118,375,878	T2297I	unknown	Het
Tmem208	T	C	8: 105,334,786	F148S	possibly damaging	Het
Tprgl	A	G	4: 154,160,574	L19P	possibly damaging	Het
Tubg2	C	A	11: 101,160,071	N207K	probably damaging	Het
Ube2n	G	T	10: 95,541,750	K130N	probably benign	Het
Usp36	T	C	11: 118,273,529	Y384C	probably damaging	Het
Vcan	A	T	13: 89,692,733	L1564*	probably null	Het
Xkr6	A	T	14: 63,798,299	D283V	unknown	Het
Zfp654	T	C	16: 64,785,160	H352R	probably benign	Het
Zfp819	T	A	7: 43,617,082	C330S	probably damaging	Het
Zfp970	G	T	2: 177,475,293	C220F	probably damaging	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
R7103:Gm9573	UTSW	17	35621540	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
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'- ATGACCACGATAACAGAGGC -3'
(R):5'- AGACCTCTGCATCTTCACTCAG -3'

Sequencing Primer
(F):5'- AAGATTTCCCAGGGCTTCAG -3'
(R):5'- GCTTGACCTCCACTATGACCAG -3'

Posted On

2019-06-26