Mutagenetix > Incidental Mutation

Incidental Mutation 'R7482:Mctp1'

615883

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

2810465F10Rik

MMRRC Submission

045556-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7482 (G1)

Quality Score

115.008

Status

Validated

Chromosome

Chromosomal Location

76532259-77179929 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 76889579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000120673 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000125209] [ENSMUST00000126960]

AlphaFold

E9PV86

Predicted Effect

probably benign
Transcript: ENSMUST00000109583

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596

Domain	Start	End	E-Value	Type
C2	3	100	1.15e-15	SMART
C2	166	263	1.35e-21	SMART
C2	322	418	4.76e-22	SMART
transmembrane domain	513	535	N/A	INTRINSIC
Pfam:PRT_C	542	672	3.3e-10	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125209

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596

Domain	Start	End	E-Value	Type
low complexity region	30	44	N/A	INTRINSIC
low complexity region	49	63	N/A	INTRINSIC
low complexity region	134	174	N/A	INTRINSIC
low complexity region	211	228	N/A	INTRINSIC
C2	260	357	1.15e-15	SMART
C2	423	520	1.35e-21	SMART
C2	579	675	4.76e-22	SMART
transmembrane domain	770	792	N/A	INTRINSIC
Pfam:PRT_C	800	929	2.2e-10	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000126960

SMART Domains

Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596

Domain	Start	End	E-Value	Type
C2	40	137	1.15e-15	SMART
C2	190	286	8.43e-14	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

100% (37/37)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actbl2	G	A	13: 111,392,673 (GRCm39)	R336H	probably damaging	Het
Akap9	C	G	5: 4,018,745 (GRCm39)	H1109D	probably benign	Het
Ap2a2	C	T	7: 141,182,210 (GRCm39)	P180S	possibly damaging	Het
Arfgef2	T	C	2: 166,693,199 (GRCm39)		probably null	Het
Arhgef25	A	T	10: 127,021,540 (GRCm39)	M226K	probably damaging	Het
Brd7	T	C	8: 89,088,254 (GRCm39)	D45G	probably damaging	Het
Bsn	C	A	9: 107,990,728 (GRCm39)	V1675F	probably damaging	Het
Chtf18	C	A	17: 25,938,963 (GRCm39)	R820L	possibly damaging	Het
Cldn7	A	G	11: 69,856,865 (GRCm39)	D38G	possibly damaging	Het
Clpb	T	C	7: 101,435,926 (GRCm39)	V615A	possibly damaging	Het
Cntnap4	T	C	8: 113,460,194 (GRCm39)		probably null	Het
Dchs2	T	A	3: 83,156,032 (GRCm39)	S798T	possibly damaging	Het
Ect2l	A	T	10: 18,044,202 (GRCm39)	M311K	probably benign	Het
Hectd4	T	A	5: 121,501,941 (GRCm39)	C4225S	possibly damaging	Het
Hecw2	T	C	1: 54,079,629 (GRCm39)	H8R	probably damaging	Het
Hif3a	G	A	7: 16,776,560 (GRCm39)	T462I	possibly damaging	Het
Itgb2l	T	C	16: 96,228,033 (GRCm39)	E490G	probably benign	Het
Jakmip3	T	A	7: 138,627,228 (GRCm39)	C411S	possibly damaging	Het
Klhl24	A	G	16: 19,933,405 (GRCm39)	T339A	possibly damaging	Het
Mlf1	T	A	3: 67,300,227 (GRCm39)	H81Q	probably benign	Het
Muc4	T	A	16: 32,587,324 (GRCm39)	Y652N		Het
Myo9b	A	G	8: 71,795,442 (GRCm39)	S804G	probably benign	Het
Or8b1	T	G	9: 38,399,747 (GRCm39)	C141G	probably damaging	Het
Pramel58	T	C	5: 94,830,739 (GRCm39)	I79T	possibly damaging	Het
Rab11fip5	T	C	6: 85,317,760 (GRCm39)	E1043G	probably benign	Het
Radil	A	G	5: 142,472,518 (GRCm39)	V941A	probably benign	Het
Senp8	A	G	9: 59,644,943 (GRCm39)	V71A	probably damaging	Het
Sh2d4a	G	A	8: 68,749,328 (GRCm39)	A121T	probably benign	Het
Stx17	A	G	4: 48,181,722 (GRCm39)	D297G	possibly damaging	Het
Tas2r105	A	T	6: 131,663,972 (GRCm39)	M152K	probably benign	Het
Tlr11	G	T	14: 50,600,456 (GRCm39)	C814F	probably damaging	Het
Tsc22d1	T	C	14: 76,655,927 (GRCm39)	V802A	probably benign	Het
Vmn1r234	A	G	17: 21,449,637 (GRCm39)	N184D	probably benign	Het
Vmn2r114	T	C	17: 23,510,468 (GRCm39)	K671E	probably damaging	Het
Vmn2r27	A	G	6: 124,201,220 (GRCm39)	F246L	probably damaging	Het
Xpo1	T	G	11: 23,232,544 (GRCm39)	L355V	probably benign	Het

Other mutations in Mctp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Mctp1	APN	13	77,168,917 (GRCm39)	missense	probably damaging	0.98
IGL01355:Mctp1	APN	13	76,533,074 (GRCm39)	missense	probably benign
IGL02192:Mctp1	APN	13	76,879,887 (GRCm39)	intron	probably benign
IGL02342:Mctp1	APN	13	77,172,976 (GRCm39)	missense	probably damaging	1.00
IGL02706:Mctp1	APN	13	76,971,188 (GRCm39)	missense	probably damaging	1.00
IGL02950:Mctp1	APN	13	77,172,929 (GRCm39)	missense	probably damaging	1.00
IGL03064:Mctp1	APN	13	76,949,632 (GRCm39)	nonsense	probably null
IGL03230:Mctp1	APN	13	76,972,976 (GRCm39)	missense	possibly damaging	0.49
R0138:Mctp1	UTSW	13	76,975,831 (GRCm39)	missense	probably damaging	1.00
R0355:Mctp1	UTSW	13	76,972,982 (GRCm39)	missense	probably damaging	1.00
R0383:Mctp1	UTSW	13	76,949,663 (GRCm39)	missense	probably damaging	1.00
R0426:Mctp1	UTSW	13	77,168,940 (GRCm39)	missense	probably benign	0.01
R0462:Mctp1	UTSW	13	76,949,520 (GRCm39)	missense	probably damaging	1.00
R0483:Mctp1	UTSW	13	76,975,846 (GRCm39)	missense	probably damaging	1.00
R0685:Mctp1	UTSW	13	76,973,918 (GRCm39)	critical splice donor site	probably null
R1468:Mctp1	UTSW	13	76,973,392 (GRCm39)	missense	probably benign	0.25
R1468:Mctp1	UTSW	13	76,973,392 (GRCm39)	missense	probably benign	0.25
R1854:Mctp1	UTSW	13	76,973,860 (GRCm39)	missense	probably damaging	0.96
R1864:Mctp1	UTSW	13	76,533,267 (GRCm39)	missense	possibly damaging	0.63
R1865:Mctp1	UTSW	13	76,533,267 (GRCm39)	missense	possibly damaging	0.63
R1920:Mctp1	UTSW	13	76,532,729 (GRCm39)	missense	possibly damaging	0.67
R2071:Mctp1	UTSW	13	76,907,843 (GRCm39)	missense	probably damaging	1.00
R2127:Mctp1	UTSW	13	76,972,941 (GRCm39)	missense	probably damaging	1.00
R2128:Mctp1	UTSW	13	76,972,941 (GRCm39)	missense	probably damaging	1.00
R2129:Mctp1	UTSW	13	76,972,941 (GRCm39)	missense	probably damaging	1.00
R3709:Mctp1	UTSW	13	76,972,999 (GRCm39)	splice site	probably null
R4463:Mctp1	UTSW	13	76,860,206 (GRCm39)	missense	probably damaging	1.00
R4510:Mctp1	UTSW	13	76,973,391 (GRCm39)	missense	probably benign	0.20
R4511:Mctp1	UTSW	13	76,973,391 (GRCm39)	missense	probably benign	0.20
R4951:Mctp1	UTSW	13	76,975,894 (GRCm39)	missense	probably damaging	0.96
R5004:Mctp1	UTSW	13	76,789,923 (GRCm39)	missense	possibly damaging	0.79
R5307:Mctp1	UTSW	13	76,860,198 (GRCm39)	critical splice acceptor site	probably null
R5339:Mctp1	UTSW	13	76,973,825 (GRCm39)	intron	probably benign
R5639:Mctp1	UTSW	13	77,172,902 (GRCm39)	splice site	silent
R5769:Mctp1	UTSW	13	76,907,927 (GRCm39)	missense	probably damaging	1.00
R5800:Mctp1	UTSW	13	76,836,678 (GRCm39)	missense	probably damaging	1.00
R5913:Mctp1	UTSW	13	76,907,944 (GRCm39)	splice site	probably null
R5981:Mctp1	UTSW	13	76,905,229 (GRCm39)	missense	probably damaging	1.00
R6024:Mctp1	UTSW	13	76,533,280 (GRCm39)	missense	probably damaging	0.98
R6192:Mctp1	UTSW	13	76,971,082 (GRCm39)	splice site	probably null
R6331:Mctp1	UTSW	13	77,168,982 (GRCm39)	critical splice donor site	probably null
R6468:Mctp1	UTSW	13	76,879,930 (GRCm39)	critical splice donor site	probably null
R6484:Mctp1	UTSW	13	76,836,744 (GRCm39)	missense	probably benign	0.02
R6656:Mctp1	UTSW	13	77,178,055 (GRCm39)	missense	probably damaging	0.99
R7026:Mctp1	UTSW	13	76,954,378 (GRCm39)	missense	probably benign	0.35
R7890:Mctp1	UTSW	13	76,975,876 (GRCm39)	missense	probably damaging	1.00
R7942:Mctp1	UTSW	13	76,789,829 (GRCm39)	critical splice acceptor site	probably null
R8029:Mctp1	UTSW	13	77,178,005 (GRCm39)	missense	probably damaging	1.00
R8034:Mctp1	UTSW	13	77,039,670 (GRCm39)	missense	probably damaging	0.99
R8085:Mctp1	UTSW	13	76,972,972 (GRCm39)	missense	probably benign	0.00
R8258:Mctp1	UTSW	13	76,949,666 (GRCm39)	critical splice donor site	probably null
R8259:Mctp1	UTSW	13	76,949,666 (GRCm39)	critical splice donor site	probably null
R8286:Mctp1	UTSW	13	76,905,174 (GRCm39)	missense	probably benign	0.22
R8713:Mctp1	UTSW	13	76,789,922 (GRCm39)	missense	probably benign
R9029:Mctp1	UTSW	13	76,836,741 (GRCm39)	missense	probably benign	0.36
R9218:Mctp1	UTSW	13	76,871,816 (GRCm39)	missense	possibly damaging	0.94
R9447:Mctp1	UTSW	13	76,727,904 (GRCm39)	missense	probably benign	0.00
R9457:Mctp1	UTSW	13	76,532,793 (GRCm39)	missense	probably benign
R9670:Mctp1	UTSW	13	76,532,840 (GRCm39)	missense	probably benign	0.01
Z1189:Mctp1	UTSW	13	76,971,161 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCACTGATGTAGGGCATGAAG -3'
(R):5'- CTATCAGTCCTTGGAAGGGGATC -3'

Sequencing Primer
(F):5'- CATGAAGAAGACAGAGTCATCTATTC -3'
(R):5'- CCTTGGAAGGGGATCTATAACTTCAG -3'

Posted On

2020-01-08