Mutagenetix > Incidental Mutation

Incidental Mutation 'R8670:Muc21'

661128

Institutional Source

Beutler Lab

Gene Symbol

Muc21

Ensembl Gene

ENSMUSG00000090588

Gene Name

mucin 21

Synonyms

epiglycanin, Gm9573

MMRRC Submission

068525-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.097) question?

Stock #

R8670 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

35928815-35937529 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 35932540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 549 (T549S)

Ref Sequence

ENSEMBL: ENSMUSP00000130987 (fasta)

Gene Model

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

AlphaFold

F7C950

Predicted Effect

unknown
Transcript: ENSMUST00000164502
AA Change: T549S

SMART Domains

Protein: ENSMUSP00000130987
Gene: ENSMUSG00000090588
AA Change: T549S

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: 99.9%
10x: 99.2%
20x: 96.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	A	T	11: 109,966,424 (GRCm39)	L403Q	probably damaging	Het
Actl11	T	C	9: 107,805,959 (GRCm39)	F94S	possibly damaging	Het
Adam34	C	T	8: 44,105,126 (GRCm39)	C173Y	possibly damaging	Het
Ankrd24	C	T	10: 81,465,526 (GRCm39)		probably benign	Het
Armh2	A	G	13: 24,930,240 (GRCm39)	E162G	probably benign	Het
Atp12a	A	T	14: 56,617,546 (GRCm39)	D612V	probably damaging	Het
Cacna2d1	T	C	5: 16,140,013 (GRCm39)	M1T	probably null	Het
Ccdc178	T	C	18: 22,230,719 (GRCm39)	E384G	possibly damaging	Het
Cd82	T	A	2: 93,250,905 (GRCm39)	T212S	probably benign	Het
Cdk17	T	A	10: 93,061,958 (GRCm39)	L263*	probably null	Het
Cfap57	T	G	4: 118,472,122 (GRCm39)	I86L	possibly damaging	Het
Chd5	T	C	4: 152,469,953 (GRCm39)	M1842T	possibly damaging	Het
Clcn7	T	C	17: 25,378,588 (GRCm39)	F691S	probably damaging	Het
Cpvl	A	T	6: 53,951,780 (GRCm39)	M1K	probably null	Het
Cym	T	C	3: 107,118,812 (GRCm39)		probably null	Het
Diaph3	T	C	14: 86,893,835 (GRCm39)	E1147G	probably benign	Het
Eif4g3	T	G	4: 137,885,823 (GRCm39)		probably null	Het
Esp3	A	G	17: 40,943,040 (GRCm39)	D11G	probably benign	Het
Exoc1	A	G	5: 76,717,505 (GRCm39)	Y865C	probably damaging	Het
Flg2	A	T	3: 93,108,791 (GRCm39)	Q273L	probably damaging	Het
Fuca1	G	A	4: 135,650,282 (GRCm39)	V118I	possibly damaging	Het
Gga3	T	C	11: 115,478,542 (GRCm39)	N417D	probably benign	Het
Il1rl1	A	T	1: 40,480,559 (GRCm39)	I63F	probably damaging	Het
Kif26b	A	G	1: 178,741,349 (GRCm39)	Y785C	probably damaging	Het
Kif5b	A	C	18: 6,214,631 (GRCm39)	S599A	probably benign	Het
Klhl22	T	A	16: 17,594,327 (GRCm39)	I152N	probably damaging	Het
Mex3c	GC	G	18: 73,722,776 (GRCm39)		probably null	Het
Or52n2c	A	T	7: 104,574,419 (GRCm39)	M184K	probably damaging	Het
Or8g2	A	G	9: 39,821,719 (GRCm39)	I207V	probably benign	Het
Orc3	A	T	4: 34,572,529 (GRCm39)	I633N	probably damaging	Het
Pclo	G	A	5: 14,732,061 (GRCm39)	R3521H	unknown	Het
Plec	A	G	15: 76,061,726 (GRCm39)	L2737P	probably damaging	Het
Prom1	T	A	5: 44,159,186 (GRCm39)	I813F	probably benign	Het
Prpf40b	T	A	15: 99,207,621 (GRCm39)	M517K	probably damaging	Het
Rab8a	TA	TAA	8: 72,925,130 (GRCm39)		probably null	Het
Rnf213	T	C	11: 119,349,563 (GRCm39)	L3808P		Het
Scnn1b	A	G	7: 121,498,472 (GRCm39)	K4R	probably benign	Het
Siglec1	A	G	2: 130,923,387 (GRCm39)	S453P	probably damaging	Het
Sim1	A	G	10: 50,784,849 (GRCm39)	K165E	probably damaging	Het
Slc49a4	G	T	16: 35,556,005 (GRCm39)	Q152K	possibly damaging	Het
Slco1a7	G	A	6: 141,711,468 (GRCm39)	T81I	possibly damaging	Het
Smarce1	T	C	11: 99,101,098 (GRCm39)	T345A	possibly damaging	Het
Spty2d1	T	C	7: 46,647,519 (GRCm39)	N470S	probably benign	Het
Stab2	T	A	10: 86,776,587 (GRCm39)	D763V	probably damaging	Het
Tbl1xr1	A	T	3: 22,245,164 (GRCm39)	E171D	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tex15	T	A	8: 34,064,746 (GRCm39)	I1392K	probably benign	Het
Thada	T	C	17: 84,739,774 (GRCm39)	E827G	probably benign	Het
Ttc3	A	G	16: 94,191,067 (GRCm39)	Y185C	probably damaging	Het
Vmn2r18	C	A	5: 151,485,854 (GRCm39)	D547Y	probably damaging	Het
Wdpcp	T	C	11: 21,645,196 (GRCm39)	V208A	probably benign	Het
Zfp322a	T	A	13: 23,541,274 (GRCm39)	Q156L	possibly damaging	Het
Zfp947	T	C	17: 22,364,687 (GRCm39)	D329G	probably benign	Het

Other mutations in Muc21

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
BB009:Muc21	UTSW	17	35,933,525 (GRCm39)	intron	probably benign
FR4304:Muc21	UTSW	17	35,933,013 (GRCm39)	intron	probably benign
R0334:Muc21	UTSW	17	35,933,614 (GRCm39)	intron	probably benign
R0946:Muc21	UTSW	17	35,929,105 (GRCm39)	missense	probably benign	0.32
R1117:Muc21	UTSW	17	35,930,920 (GRCm39)	intron	probably benign
R1345:Muc21	UTSW	17	35,932,489 (GRCm39)	intron	probably benign
R1697:Muc21	UTSW	17	35,931,540 (GRCm39)	intron	probably benign
R1750:Muc21	UTSW	17	35,931,940 (GRCm39)	intron	probably benign
R1756:Muc21	UTSW	17	35,930,131 (GRCm39)	intron	probably benign
R1946:Muc21	UTSW	17	35,933,416 (GRCm39)	intron	probably benign
R1978:Muc21	UTSW	17	35,933,857 (GRCm39)	intron	probably benign
R1991:Muc21	UTSW	17	35,929,600 (GRCm39)	missense	probably benign	0.32
R1992:Muc21	UTSW	17	35,929,600 (GRCm39)	missense	probably benign	0.32
R2063:Muc21	UTSW	17	35,932,297 (GRCm39)	intron	probably benign
R2356:Muc21	UTSW	17	35,932,563 (GRCm39)	intron	probably benign
R2866:Muc21	UTSW	17	35,930,599 (GRCm39)	intron	probably benign
R3826:Muc21	UTSW	17	35,932,504 (GRCm39)	intron	probably benign
R4020:Muc21	UTSW	17	35,930,953 (GRCm39)	intron	probably benign
R4474:Muc21	UTSW	17	35,931,496 (GRCm39)	intron	probably benign
R4677:Muc21	UTSW	17	35,930,599 (GRCm39)	intron	probably benign
R4786:Muc21	UTSW	17	35,930,221 (GRCm39)	intron	probably benign
R5071:Muc21	UTSW	17	35,931,444 (GRCm39)	intron	probably benign
R5173:Muc21	UTSW	17	35,931,633 (GRCm39)	intron	probably benign
R5283:Muc21	UTSW	17	35,932,224 (GRCm39)	intron	probably benign
R5446:Muc21	UTSW	17	35,933,395 (GRCm39)	intron	probably benign
R5542:Muc21	UTSW	17	35,933,395 (GRCm39)	intron	probably benign
R5716:Muc21	UTSW	17	35,931,675 (GRCm39)	intron	probably benign
R5913:Muc21	UTSW	17	35,934,123 (GRCm39)	intron	probably benign
R6011:Muc21	UTSW	17	35,933,074 (GRCm39)	intron	probably benign
R6198:Muc21	UTSW	17	35,931,808 (GRCm39)	intron	probably benign
R6394:Muc21	UTSW	17	35,931,058 (GRCm39)	intron	probably benign
R6786:Muc21	UTSW	17	35,934,057 (GRCm39)	intron	probably benign
R6940:Muc21	UTSW	17	35,934,118 (GRCm39)	intron	probably benign
R7082:Muc21	UTSW	17	35,932,093 (GRCm39)	missense	unknown
R7103:Muc21	UTSW	17	35,932,432 (GRCm39)	missense	unknown
R7110:Muc21	UTSW	17	35,933,510 (GRCm39)	intron	probably benign
R7139:Muc21	UTSW	17	35,933,525 (GRCm39)	intron	probably benign
R7165:Muc21	UTSW	17	35,932,870 (GRCm39)	missense	unknown
R7200:Muc21	UTSW	17	35,933,525 (GRCm39)	intron	probably benign
R7204:Muc21	UTSW	17	35,932,105 (GRCm39)	intron	probably benign
R7289:Muc21	UTSW	17	35,929,761 (GRCm39)	missense	unknown
R7290:Muc21	UTSW	17	35,929,761 (GRCm39)	missense	unknown
R7295:Muc21	UTSW	17	35,929,761 (GRCm39)	missense	unknown
R7319:Muc21	UTSW	17	35,932,935 (GRCm39)	intron	probably benign
R7462:Muc21	UTSW	17	35,931,568 (GRCm39)	missense	unknown
R7529:Muc21	UTSW	17	35,930,123 (GRCm39)	missense	unknown
R7718:Muc21	UTSW	17	35,933,728 (GRCm39)	missense	unknown
R7762:Muc21	UTSW	17	35,932,977 (GRCm39)	missense	unknown
R7788:Muc21	UTSW	17	35,929,798 (GRCm39)	missense	unknown
R7798:Muc21	UTSW	17	35,932,146 (GRCm39)	missense	unknown
R7831:Muc21	UTSW	17	35,929,651 (GRCm39)	missense	unknown
R7896:Muc21	UTSW	17	35,930,917 (GRCm39)	missense	unknown
R7899:Muc21	UTSW	17	35,931,493 (GRCm39)	intron	probably benign
R7932:Muc21	UTSW	17	35,933,525 (GRCm39)	intron	probably benign
R8025:Muc21	UTSW	17	35,931,879 (GRCm39)	intron	probably benign
R8077:Muc21	UTSW	17	35,930,628 (GRCm39)	intron	probably benign
R8090:Muc21	UTSW	17	35,932,617 (GRCm39)	missense	unknown
R8169:Muc21	UTSW	17	35,932,072 (GRCm39)	missense	unknown
R8184:Muc21	UTSW	17	35,933,722 (GRCm39)	missense	unknown
R8209:Muc21	UTSW	17	35,930,599 (GRCm39)	intron	probably benign
R8226:Muc21	UTSW	17	35,930,599 (GRCm39)	intron	probably benign
R8464:Muc21	UTSW	17	35,933,098 (GRCm39)	intron	probably benign
R8783:Muc21	UTSW	17	35,930,875 (GRCm39)	missense	unknown
R8856:Muc21	UTSW	17	35,931,865 (GRCm39)	missense	unknown
R9155:Muc21	UTSW	17	35,932,131 (GRCm39)	missense	unknown
R9214:Muc21	UTSW	17	35,931,838 (GRCm39)	missense	unknown
R9353:Muc21	UTSW	17	35,930,545 (GRCm39)	missense	unknown
R9618:Muc21	UTSW	17	35,932,935 (GRCm39)	intron	probably benign
R9621:Muc21	UTSW	17	35,932,720 (GRCm39)	missense	unknown
R9679:Muc21	UTSW	17	35,930,491 (GRCm39)	missense	unknown
RF025:Muc21	UTSW	17	35,933,771 (GRCm39)	intron	probably benign
Z1176:Muc21	UTSW	17	35,932,137 (GRCm39)	missense	unknown
Z1177:Muc21	UTSW	17	35,931,951 (GRCm39)	missense	unknown
Z1177:Muc21	UTSW	17	35,931,817 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATCCTGAGGCAGTGCTAGATG -3'
(R):5'- TCTGCCTCAGGATCTATGCC -3'

Sequencing Primer
(F):5'- GCTAGATGCAGTGGTGGTAG -3'
(R):5'- ACTGGCTCAGGCTCTACC -3'

Posted On

2021-03-08