Mutagenetix > Incidental Mutation

Incidental Mutation 'R5892:Muc1'

457234

Institutional Source

Beutler Lab

Gene Symbol

Muc1

Ensembl Gene

ENSMUSG00000042784

Gene Name

mucin 1, transmembrane

Synonyms

EMA, CD227, Muc-1

MMRRC Submission

044093-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.309) question?

Stock #

R5892 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

89229057-89233381 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 89230993 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 381 (P381S)

Ref Sequence

ENSEMBL: ENSMUSP00000041963 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029682] [ENSMUST00000041022] [ENSMUST00000041142] [ENSMUST00000090924] [ENSMUST00000107464] [ENSMUST00000119084] [ENSMUST00000143637] [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

probably benign
Transcript: ENSMUST00000041022

SMART Domains

Protein: ENSMUSP00000036053
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	33	133	1.92e-6	SMART
BBOX	222	263	9.59e-7	SMART
Blast:BBC	271	395	3e-13	BLAST
FN3	430	515	2.03e-2	SMART
low complexity region	561	571	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000041142
AA Change: P381S

PolyPhen 2 Score 0.039 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000041963
Gene: ENSMUSG00000042784
AA Change: P381S

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: ENSMUST00000090924

SMART Domains

Protein: ENSMUSP00000088442
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	20	120	1.92e-6	SMART
BBOX	209	250	9.59e-7	SMART
Blast:BBC	258	382	8e-13	BLAST
FN3	417	502	2.03e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102300

Predicted Effect

probably benign
Transcript: ENSMUST00000107464

SMART Domains

Protein: ENSMUSP00000103088
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	10	110	1.92e-6	SMART
BBOX	199	240	9.59e-7	SMART
Blast:BBC	248	372	2e-13	BLAST
FN3	407	492	2.03e-2	SMART
low complexity region	538	548	N/A	INTRINSIC

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

noncoding transcript
Transcript: ENSMUST00000126315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126372

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

noncoding transcript
Transcript: ENSMUST00000139206

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139419

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153129

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174324

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146844

Predicted Effect

probably benign
Transcript: ENSMUST00000143637

SMART Domains

Protein: ENSMUSP00000119270
Gene: ENSMUSG00000042766

Domain	Start	End	E-Value	Type
RING	33	133	1.92e-6	SMART
BBOX	222	263	9.59e-7	SMART
Blast:BBC	270	391	4e-11	BLAST

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

Meta Mutation Damage Score

0.0613

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.6%

Validation Efficiency

98% (56/57)

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930524J08Rik	G	T	5: 99,979,265		probably benign	Het
Abcb11	C	T	2: 69,261,500	A893T	probably damaging	Het
Adtrp	A	T	13: 41,828,206	N30K	probably benign	Het
Alms1	T	A	6: 85,620,903	S904T	probably damaging	Het
Cep170	T	A	1: 176,755,387		probably null	Het
Cntnap3	A	G	13: 64,799,180	V145A	probably damaging	Het
Dclre1a	T	C	19: 56,547,140	E4G	probably benign	Het
Depdc1a	G	C	3: 159,526,669	A686P	probably damaging	Het
Dnah7b	T	C	1: 46,337,593		probably null	Het
Enox1	A	G	14: 77,486,017		probably benign	Het
Fam107b	A	G	2: 3,778,564	E268G	probably damaging	Het
Fer1l6	A	G	15: 58,564,068	S437G	probably benign	Het
Flnb	C	A	14: 7,907,183	T1252K	probably damaging	Het
Fubp1	A	G	3: 152,218,314		probably benign	Het
Gm20402	G	A	3: 52,268,949	A50T	probably benign	Het
Gpr137b	T	C	13: 13,359,406	Y355C		Het
Gzmk	C	T	13: 113,173,922		probably null	Het
Ino80	A	T	2: 119,439,547		probably benign	Het
Ints8	T	C	4: 11,223,813	T677A	probably damaging	Het
Kat6a	A	G	8: 22,938,289	E1220G	probably damaging	Het
Lrfn5	A	G	12: 61,843,418	T498A	probably damaging	Het
Lrp2	T	A	2: 69,442,776	T4043S	probably benign	Het
Malrd1	A	G	2: 15,614,267	N314S	probably benign	Het
Mfsd1	A	G	3: 67,589,829		probably null	Het
Myh2	A	T	11: 67,185,176	K730*	probably null	Het
Nat3	T	A	8: 67,547,938	N156K	probably benign	Het
Nelfe	T	C	17: 34,854,669		probably benign	Het
Nlrp1a	A	T	11: 71,099,645	L927Q	probably damaging	Het
P4ha2	A	G	11: 54,120,188	Y343C	probably damaging	Het
Pclo	A	T	5: 14,521,171	Q190L	probably damaging	Het
Pde8a	A	G	7: 81,295,691	N183S	probably damaging	Het
Plekha2	C	T	8: 25,052,365	V278I	probably benign	Het
Plekha6	G	C	1: 133,272,307	R208P	possibly damaging	Het
Plxnb1	T	C	9: 109,111,707	L1550P	probably damaging	Het
Ppox	C	T	1: 171,277,461	V385I	probably damaging	Het
Prdm16	T	C	4: 154,323,259	D1170G	possibly damaging	Het
Prmt5	A	T	14: 54,509,911	S470T	probably damaging	Het
Robo2	T	A	16: 73,895,780		probably benign	Het
Siglecg	G	A	7: 43,412,204		probably benign	Het
Slc30a5	T	C	13: 100,813,302	N367S	probably damaging	Het
Tex29	C	T	8: 11,854,288		probably benign	Het
Tmem117	T	A	15: 94,638,139	V18E	probably damaging	Het
Tmtc2	C	T	10: 105,413,505	M122I	probably benign	Het
Tpr	T	A	1: 150,407,400	N287K	probably benign	Het
Unc93b1	A	T	19: 3,943,632	D358V	probably damaging	Het
Vrk2	A	T	11: 26,534,372		probably benign	Het
Wdr24	A	T	17: 25,827,986	Q671L	probably benign	Het
Zfp110	C	T	7: 12,848,478	T351I	probably benign	Het
Zfp963	T	C	8: 69,743,377	D142G	probably benign	Het

Other mutations in Muc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01152:Muc1	APN	3	89230754	missense	probably benign	0.01
IGL01549:Muc1	APN	3	89231810	missense	probably damaging	1.00
IGL01969:Muc1	APN	3	89232006	missense	probably damaging	1.00
IGL02233:Muc1	APN	3	89231628	missense	probably benign	0.11
IGL03160:Muc1	APN	3	89233024	missense	possibly damaging	0.89
R0670:Muc1	UTSW	3	89230532	missense	probably benign	0.00
R0682:Muc1	UTSW	3	89231132	missense	probably damaging	1.00
R0702:Muc1	UTSW	3	89230220	missense	probably benign	0.00
R0744:Muc1	UTSW	3	89230328	missense	possibly damaging	0.92
R1137:Muc1	UTSW	3	89230438	missense	probably benign	0.00
R1270:Muc1	UTSW	3	89232107	missense	probably damaging	1.00
R1673:Muc1	UTSW	3	89231772	missense	possibly damaging	0.76
R1869:Muc1	UTSW	3	89231810	missense	probably damaging	1.00
R2169:Muc1	UTSW	3	89231596	missense	probably damaging	1.00
R4460:Muc1	UTSW	3	89231563	missense	probably damaging	0.98
R4461:Muc1	UTSW	3	89231563	missense	probably damaging	0.98
R4672:Muc1	UTSW	3	89232077	missense	probably damaging	0.99
R6039:Muc1	UTSW	3	89232029	missense	probably damaging	1.00
R6039:Muc1	UTSW	3	89232029	missense	probably damaging	1.00
R6931:Muc1	UTSW	3	89229159	unclassified	probably benign
R7400:Muc1	UTSW	3	89230646	missense	possibly damaging	0.63
R8210:Muc1	UTSW	3	89231599	missense	probably damaging	1.00
R8258:Muc1	UTSW	3	89232034	missense	probably damaging	1.00
R8259:Muc1	UTSW	3	89232034	missense	probably damaging	1.00
R8714:Muc1	UTSW	3	89231514	missense	possibly damaging	0.95
R8715:Muc1	UTSW	3	89231514	missense	possibly damaging	0.95
R8717:Muc1	UTSW	3	89231514	missense	possibly damaging	0.95
R8851:Muc1	UTSW	3	89231118	missense	probably benign	0.08
R8854:Muc1	UTSW	3	89232105	missense	probably damaging	1.00
R9314:Muc1	UTSW	3	89231518	missense	probably damaging	1.00
R9584:Muc1	UTSW	3	89231066	missense	probably benign	0.22
R9706:Muc1	UTSW	3	89231581	missense	probably benign	0.12
X0065:Muc1	UTSW	3	89230286	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGACGTCAGGCTCAGCTATC -3'
(R):5'- GCTAGGCTGATACCCACCAATC -3'

Sequencing Primer
(F):5'- GTCAGGCTCAGCTATCATTCCAGAC -3'
(R):5'- CAATCCAGAAATGTTCCTCTTCAG -3'

Posted On

2017-02-15