Mutagenetix > Incidental Mutation

Incidental Mutation 'R1697:Gm9573'

192364

Institutional Source

Beutler Lab

Gene Symbol

Gm9573

Ensembl Gene

ENSMUSG00000090588

Gene Name

predicted gene 9573

Synonyms

Muc21, epiglycanin

MMRRC Submission

039730-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1697 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

35617923-35626637 bp(-) (GRCm38)

Type of Mutation

intron

DNA Base Change (assembly)

A to C at 35620648 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134221 (fasta)

Gene Model

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

AlphaFold

F7C950

Predicted Effect

unknown
Transcript: ENSMUST00000164502
AA Change: L882R

SMART Domains

Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: L882R

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

noncoding transcript
Transcript: ENSMUST00000173759

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174534

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.3%

Validation Efficiency

99% (67/68)

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	T	13: 60,845,114	D250E	probably damaging	Het
4930571K23Rik	A	G	7: 125,369,029		noncoding transcript	Het
9530053A07Rik	T	A	7: 28,154,347	C1579S	probably damaging	Het
Acsl3	T	C	1: 78,705,397		probably benign	Het
Acsl6	C	A	11: 54,329,966	T244K	probably damaging	Het
Adam26b	T	A	8: 43,520,963	N334I	probably damaging	Het
Adgrl4	C	T	3: 151,517,611	T608M	probably damaging	Het
Aldh2	A	G	5: 121,578,341		probably null	Het
Alms1	A	G	6: 85,622,454	T1890A	possibly damaging	Het
C87977	A	C	4: 144,208,592	I193S	probably damaging	Het
Capn7	C	T	14: 31,360,160	T441M	probably damaging	Het
Cd9	A	T	6: 125,464,404	C85S	probably damaging	Het
Chrm3	T	C	13: 9,878,758	T81A	probably damaging	Het
Ctif	A	G	18: 75,624,305		probably benign	Het
Dcc	T	A	18: 71,370,737	D950V	probably damaging	Het
Eif4g1	T	C	16: 20,679,780	V422A	probably damaging	Het
Enthd1	A	G	15: 80,452,923	S437P	probably damaging	Het
Fads1	A	G	19: 10,194,100		probably benign	Het
Fat3	T	A	9: 15,944,880	I3869L	probably benign	Het
Fbxw5	T	A	2: 25,502,461	V85E	possibly damaging	Het
Fem1b	T	C	9: 62,797,174	D268G	possibly damaging	Het
Focad	T	C	4: 88,408,988	L1772P	probably damaging	Het
Gm9833	G	A	3: 10,089,553	V461I	possibly damaging	Het
Gtf3a	C	A	5: 146,951,913	Q145K	possibly damaging	Het
Hacl1	T	C	14: 31,621,000		probably null	Het
Herc2	T	A	7: 56,153,905	F2229L	probably benign	Het
Hs3st4	A	T	7: 124,396,857	I249L	probably benign	Het
Iqsec1	A	T	6: 90,809,770	Y7*	probably null	Het
Klk1b1	T	A	7: 43,970,326	M103K	probably benign	Het
Krt5	A	G	15: 101,710,585	V287A	probably benign	Het
Lgals12	T	A	19: 7,604,165	Q59L	possibly damaging	Het
Loxl4	A	G	19: 42,604,940	V264A	possibly damaging	Het
Lrmp	A	G	6: 145,137,615		probably benign	Het
Lrp1b	T	C	2: 40,822,683	D3099G	probably damaging	Het
Mical3	G	A	6: 121,007,408	T169I	possibly damaging	Het
Myh7b	A	C	2: 155,620,134	S317R	probably damaging	Het
Nrbp1	T	A	5: 31,245,813	I210N	probably damaging	Het
Nsd1	A	T	13: 55,214,059		probably null	Het
Nupl1	A	T	14: 60,244,670		probably benign	Het
Olfr152	T	A	2: 87,782,585	I15N	possibly damaging	Het
Olfr190	A	G	16: 59,074,907	Y58H	probably damaging	Het
Olfr331	A	T	11: 58,501,676	S293R	probably damaging	Het
Olfr346	C	T	2: 36,688,247	L82F	probably damaging	Het
Olfr769	T	C	10: 129,111,868	T186A	probably benign	Het
Pcnx2	A	G	8: 125,850,348	Y982H	probably damaging	Het
Pias3	T	C	3: 96,702,225	L312P	probably damaging	Het
Plekhm1	G	A	11: 103,376,884	P754S	probably damaging	Het
Ppp2r5c	T	A	12: 110,545,623	L145*	probably null	Het
Ppp2r5c	T	A	12: 110,561,472		probably benign	Het
Proser3	T	C	7: 30,540,021	M553V	probably benign	Het
Shf	G	A	2: 122,368,682	P51S	probably damaging	Het
Smurf2	A	T	11: 106,824,688	D664E	possibly damaging	Het
Spag9	G	A	11: 93,996,565	A99T	probably benign	Het
Stim1	T	G	7: 102,354,506	C49G	probably damaging	Het
Stk32c	T	C	7: 139,121,824	I238V	probably benign	Het
Tenm2	C	T	11: 36,063,177	G1236R	possibly damaging	Het
Tfb2m	T	A	1: 179,544,899	E133V	probably null	Het
Tmem209	A	T	6: 30,497,868	C143S	probably benign	Het
Tnr	T	G	1: 159,852,030	N191K	probably benign	Het
Vars	C	T	17: 34,998,222	A419T	probably benign	Het
Vmn2r111	T	C	17: 22,548,060	S819G	probably benign	Het
Wls	T	C	3: 159,897,358	V136A	probably benign	Het
Ybx2	C	T	11: 69,940,061	S217L	probably benign	Het
Zfp82	T	C	7: 30,057,354	D37G	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
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
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'- AGGGTGGGCATAGATCCTGAGGC -3'
(R):5'- CCACTACTGCATCCAGCACTGC -3'

Sequencing Primer
(F):5'- ATAGATCCTGAGGCAGAGCT -3'
(R):5'- TAGCACTGCCTCAGGATCTAC -3'

Posted On

2014-05-14