Mutagenetix > Incidental Mutation

Incidental Mutation 'R6931:Muc1'

539998

Institutional Source

Beutler Lab

Gene Symbol

Muc1

Ensembl Gene

ENSMUSG00000042784

Gene Name

mucin 1, transmembrane

Synonyms

Muc-1, EMA, CD227

MMRRC Submission

045326-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.335) question?

Stock #

R6931 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

89136364-89140688 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

C to T at 89136466 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133291 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000041142] [ENSMUST00000119084] [ENSMUST00000174126]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000029682

SMART Domains

Protein: ENSMUSP00000029682
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	2.5e-22	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
EGF	417	456	1.99e0	SMART
Pfam:TSP_3	492	527	1e-12	PFAM
Pfam:TSP_3	551	586	2.2e-16	PFAM
Pfam:TSP_3	586	609	6.6e-7	PFAM
Pfam:TSP_3	610	647	2.6e-14	PFAM
Pfam:TSP_3	648	687	2.4e-10	PFAM
Pfam:TSP_3	688	723	4.2e-15	PFAM
Pfam:TSP_C	741	938	3.3e-99	PFAM

Predicted Effect

unknown
Transcript: ENSMUST00000041142
AA Change: L14F

SMART Domains

Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: L14F

Domain	Start	End	E-Value	Type
signal peptide	1	23	N/A	INTRINSIC
low complexity region	30	46	N/A	INTRINSIC
internal_repeat_2	48	106	4.93e-6	PROSPERO
internal_repeat_1	79	151	3.46e-38	PROSPERO
low complexity region	153	181	N/A	INTRINSIC
internal_repeat_1	183	254	3.46e-38	PROSPERO
internal_repeat_2	192	259	4.93e-6	PROSPERO
low complexity region	277	292	N/A	INTRINSIC
low complexity region	296	307	N/A	INTRINSIC
low complexity region	370	381	N/A	INTRINSIC
low complexity region	382	400	N/A	INTRINSIC
SEA	412	528	6.2e-43	SMART
low complexity region	537	552	N/A	INTRINSIC
Blast:SEA	557	624	2e-36	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000119084

SMART Domains

Protein: ENSMUSP00000112912
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
TSPN	21	193	4.71e-56	SMART
Pfam:COMP	226	270	8.2e-26	PFAM
EGF	277	315	8.19e-2	SMART
EGF_CA	316	369	6.91e-9	SMART
EGF_CA	370	413	1.38e-8	SMART
Pfam:TSP_3	455	490	4.4e-13	PFAM
Pfam:TSP_3	514	549	9.3e-17	PFAM
Pfam:TSP_3	549	572	2.8e-7	PFAM
Pfam:TSP_3	573	610	1.1e-14	PFAM
Pfam:TSP_3	611	650	1e-10	PFAM
Pfam:TSP_3	651	686	1.8e-15	PFAM
Pfam:TSP_C	704	904	7.9e-108	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000136881

SMART Domains

Protein: ENSMUSP00000120337
Gene: ENSMUSG00000028047

Domain	Start	End	E-Value	Type
Pfam:TSP_3	1	31	5.8e-14	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000174126

SMART Domains

Protein: ENSMUSP00000133291
Gene: ENSMUSG00000064068

Domain	Start	End	E-Value	Type
Pfam:Tom37_C	1	74	7.6e-23	PFAM
Pfam:GST_C_3	7	143	7.3e-12	PFAM
Pfam:GST_C_2	26	137	2.8e-9	PFAM
Pfam:Tom37_C	61	129	6.2e-15	PFAM
low complexity region	159	169	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.0%

Validation Efficiency

99% (77/78)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele display delayed mammary tumor progression, impaired intestinal absorption of cholesterol, decreased gastric mucus accumulation, reduced secretion and accumulation of gallbladder mucin, and decreased susceptibility to cholesterol gallstone formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	T	A	5: 88,118,561 (GRCm39)	I15N	probably damaging	Het
2900092C05Rik	T	A	7: 12,246,523 (GRCm39)	S6R	unknown	Het
Abca6	T	A	11: 110,135,154 (GRCm39)	L210F	probably benign	Het
Abcc4	T	C	14: 118,765,400 (GRCm39)	Q919R	probably damaging	Het
Adcy1	A	G	11: 7,100,884 (GRCm39)	D811G	possibly damaging	Het
Akna	A	G	4: 63,305,339 (GRCm39)	S476P	probably benign	Het
Ankrd49	T	C	9: 14,694,122 (GRCm39)	N15S	probably benign	Het
Apcdd1	A	G	18: 63,066,979 (GRCm39)	D31G	probably damaging	Het
Aplp1	G	T	7: 30,142,625 (GRCm39)	R106S	probably damaging	Het
Arhgap40	T	C	2: 158,373,138 (GRCm39)	L132S	probably benign	Het
Atp8b5	G	T	4: 43,364,108 (GRCm39)		probably null	Het
Axl	T	C	7: 25,460,858 (GRCm39)	D717G	probably damaging	Het
Bub1	T	A	2: 127,643,302 (GRCm39)	D1014V	probably damaging	Het
Cacna2d4	T	A	6: 119,259,195 (GRCm39)	V603E	possibly damaging	Het
Cnot11	G	C	1: 39,579,002 (GRCm39)	C289S	probably damaging	Het
Coasy	A	G	11: 100,974,407 (GRCm39)	H191R	probably benign	Het
Cyp11a1	A	T	9: 57,932,403 (GRCm39)	N341Y	possibly damaging	Het
Cyp1a2	T	C	9: 57,589,439 (GRCm39)	N125S	probably benign	Het
Cyp2j8	A	T	4: 96,333,018 (GRCm39)		probably null	Het
Dnah9	A	T	11: 66,008,452 (GRCm39)	I791K	possibly damaging	Het
Ecm2	A	T	13: 49,682,487 (GRCm39)	Q505H	probably benign	Het
Fam135a	T	A	1: 24,124,568 (GRCm39)	M1L	probably damaging	Het
Fam171a2	A	G	11: 102,329,260 (GRCm39)	S500P	possibly damaging	Het
Fat3	A	G	9: 15,871,238 (GRCm39)	S3718P	possibly damaging	Het
Frem1	G	A	4: 82,888,914 (GRCm39)	P1085S	probably damaging	Het
Gcfc2	A	G	6: 81,919,966 (GRCm39)	I390V	probably benign	Het
Gemin4	A	G	11: 76,101,782 (GRCm39)	L993P	probably damaging	Het
Ggnbp2	T	A	11: 84,723,993 (GRCm39)	D647V	probably damaging	Het
Gpr84	A	C	15: 103,217,441 (GRCm39)	L212R	probably damaging	Het
Hnrnpu	T	C	1: 178,158,997 (GRCm39)		probably benign	Het
Hspg2	G	T	4: 137,268,031 (GRCm39)	C2116F	probably damaging	Het
Icam4	T	A	9: 20,941,747 (GRCm39)	V249E	probably damaging	Het
Itga1	T	C	13: 115,138,099 (GRCm39)	N429D	probably benign	Het
Kcns1	T	C	2: 164,006,758 (GRCm39)	T402A	probably damaging	Het
Ky	T	A	9: 102,414,826 (GRCm39)	V246E	probably damaging	Het
Marchf1	A	G	8: 66,921,144 (GRCm39)	T529A	probably benign	Het
Med18	C	G	4: 132,187,194 (GRCm39)	V102L	probably damaging	Het
Mlst8	T	C	17: 24,696,249 (GRCm39)	D160G	probably damaging	Het
Mthfd1	T	C	12: 76,350,472 (GRCm39)	I470T	probably benign	Het
Mup8	G	A	4: 60,220,322 (GRCm39)	L137F	probably damaging	Het
Mybpc1	A	T	10: 88,378,192 (GRCm39)	L341*	probably null	Het
Nacad	A	G	11: 6,551,877 (GRCm39)	F438S	probably benign	Het
Necap2	C	A	4: 140,805,523 (GRCm39)		probably null	Het
Nifk	T	C	1: 118,260,078 (GRCm39)	L163S	possibly damaging	Het
Npsr1	A	G	9: 24,201,293 (GRCm39)	I73V	probably benign	Het
Nup50l	T	C	6: 96,142,529 (GRCm39)	T172A	possibly damaging	Het
Oog3	C	T	4: 143,885,923 (GRCm39)	C225Y	probably benign	Het
Or2d2	A	G	7: 106,728,108 (GRCm39)	L164P	probably damaging	Het
Or4b13	A	T	2: 90,083,121 (GRCm39)	C70*	probably null	Het
Or4c100	T	A	2: 88,356,538 (GRCm39)	C204S	possibly damaging	Het
Or4p18	G	A	2: 88,232,408 (GRCm39)	T290I	probably benign	Het
Plagl2	C	A	2: 153,077,863 (GRCm39)	K39N	probably benign	Het
Plcg2	T	A	8: 118,284,058 (GRCm39)	D118E	probably benign	Het
Ppp4r3b	A	T	11: 29,161,786 (GRCm39)	K720I	possibly damaging	Het
Prmt3	A	T	7: 49,478,764 (GRCm39)	T442S	probably benign	Het
Prr14l	G	A	5: 32,988,035 (GRCm39)	H487Y	probably damaging	Het
Psmb3	G	A	11: 97,594,797 (GRCm39)	V63I	probably benign	Het
Psmc6	T	A	14: 45,581,182 (GRCm39)	I326K	possibly damaging	Het
Ptcd1	T	C	5: 145,091,885 (GRCm39)	T405A	probably benign	Het
Rbm33	G	A	5: 28,615,743 (GRCm39)	V29M	probably damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Scarb1	T	A	5: 125,361,783 (GRCm39)	I107F	probably damaging	Het
Slc39a12	A	G	2: 14,394,186 (GRCm39)	S19G	probably benign	Het
Slc44a5	T	C	3: 153,964,143 (GRCm39)	V503A	probably benign	Het
Slc9a9	T	C	9: 94,552,139 (GRCm39)	S9P	possibly damaging	Het
Snrnp35	A	C	5: 124,628,764 (GRCm39)	R192S	possibly damaging	Het
Tbx15	T	C	3: 99,259,467 (GRCm39)	L446P	probably damaging	Het
Tlnrd1	A	G	7: 83,531,805 (GRCm39)	F209L	probably benign	Het
Tmprss12	C	T	15: 100,183,149 (GRCm39)	R164C	probably damaging	Het
Tnfsf4	T	A	1: 161,244,644 (GRCm39)	F111Y	possibly damaging	Het
Trib2	A	T	12: 15,843,640 (GRCm39)	M198K	probably benign	Het
Ttll8	A	G	15: 88,798,507 (GRCm39)	S743P	possibly damaging	Het
Ush2a	A	T	1: 188,460,580 (GRCm39)	N2614Y	probably benign	Het
Usp6nl	G	A	2: 6,435,269 (GRCm39)	V343I	possibly damaging	Het
Vrtn	C	A	12: 84,697,016 (GRCm39)	Q589K	probably benign	Het
Zbed5	T	A	5: 129,932,170 (GRCm39)	Y706*	probably null	Het
Zc3h10	A	G	10: 128,380,553 (GRCm39)	V268A	probably damaging	Het
Zfp442	C	T	2: 150,252,860 (GRCm39)		probably null	Het
Zpld2	A	T	4: 133,920,464 (GRCm39)	M567K	probably benign	Het

Other mutations in Muc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Muc1	APN	3	89,138,061 (GRCm39)	missense	probably benign	0.01
IGL01549:Muc1	APN	3	89,139,117 (GRCm39)	missense	probably damaging	1.00
IGL01969:Muc1	APN	3	89,139,313 (GRCm39)	missense	probably damaging	1.00
IGL02233:Muc1	APN	3	89,138,935 (GRCm39)	missense	probably benign	0.11
IGL03160:Muc1	APN	3	89,140,331 (GRCm39)	missense	possibly damaging	0.89
R0670:Muc1	UTSW	3	89,137,839 (GRCm39)	missense	probably benign	0.00
R0682:Muc1	UTSW	3	89,138,439 (GRCm39)	missense	probably damaging	1.00
R0702:Muc1	UTSW	3	89,137,527 (GRCm39)	missense	probably benign	0.00
R0744:Muc1	UTSW	3	89,137,635 (GRCm39)	missense	possibly damaging	0.92
R1137:Muc1	UTSW	3	89,137,745 (GRCm39)	missense	probably benign	0.00
R1270:Muc1	UTSW	3	89,139,414 (GRCm39)	missense	probably damaging	1.00
R1673:Muc1	UTSW	3	89,139,079 (GRCm39)	missense	possibly damaging	0.76
R1869:Muc1	UTSW	3	89,139,117 (GRCm39)	missense	probably damaging	1.00
R2169:Muc1	UTSW	3	89,138,903 (GRCm39)	missense	probably damaging	1.00
R4460:Muc1	UTSW	3	89,138,870 (GRCm39)	missense	probably damaging	0.98
R4461:Muc1	UTSW	3	89,138,870 (GRCm39)	missense	probably damaging	0.98
R4672:Muc1	UTSW	3	89,139,384 (GRCm39)	missense	probably damaging	0.99
R5892:Muc1	UTSW	3	89,138,300 (GRCm39)	missense	probably benign	0.04
R6039:Muc1	UTSW	3	89,139,336 (GRCm39)	missense	probably damaging	1.00
R6039:Muc1	UTSW	3	89,139,336 (GRCm39)	missense	probably damaging	1.00
R7400:Muc1	UTSW	3	89,137,953 (GRCm39)	missense	possibly damaging	0.63
R8210:Muc1	UTSW	3	89,138,906 (GRCm39)	missense	probably damaging	1.00
R8258:Muc1	UTSW	3	89,139,341 (GRCm39)	missense	probably damaging	1.00
R8259:Muc1	UTSW	3	89,139,341 (GRCm39)	missense	probably damaging	1.00
R8714:Muc1	UTSW	3	89,138,821 (GRCm39)	missense	possibly damaging	0.95
R8715:Muc1	UTSW	3	89,138,821 (GRCm39)	missense	possibly damaging	0.95
R8717:Muc1	UTSW	3	89,138,821 (GRCm39)	missense	possibly damaging	0.95
R8851:Muc1	UTSW	3	89,138,425 (GRCm39)	missense	probably benign	0.08
R8854:Muc1	UTSW	3	89,139,412 (GRCm39)	missense	probably damaging	1.00
R9314:Muc1	UTSW	3	89,138,825 (GRCm39)	missense	probably damaging	1.00
R9584:Muc1	UTSW	3	89,138,373 (GRCm39)	missense	probably benign	0.22
R9706:Muc1	UTSW	3	89,138,888 (GRCm39)	missense	probably benign	0.12
X0065:Muc1	UTSW	3	89,137,593 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- CGGAGTTTTGTTACCTGTCACC -3'
(R):5'- TATAGTGCCCACTCTCCTGAG -3'

Sequencing Primer
(F):5'- CTGCTCTGACTGTGCCTAGG -3'
(R):5'- ACTCTCCTGAGGGGTCAC -3'

Posted On

2018-11-06