Mutagenetix > Incidental Mutation

Incidental Mutation 'R0685:Mctp1'

61140

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

2810465F10Rik

MMRRC Submission

038870-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0685 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

76532259-77179929 bp(+) (GRCm39)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to C at 76973918 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

probably null
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 null
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

noncoding transcript
Transcript: ENSMUST00000122843

Predicted Effect

probably null
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

noncoding transcript
Transcript: ENSMUST00000137052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149028

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155275

Meta Mutation Damage Score

0.9503

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.6%
20x: 95.6%

Validation Efficiency

98% (89/91)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700020N01Rik	A	G	10: 21,469,337 (GRCm39)	D17G	probably damaging	Het
Abi3bp	A	G	16: 56,353,316 (GRCm39)	T82A	possibly damaging	Het
Adgre4	A	C	17: 56,099,035 (GRCm39)	E180D	probably benign	Het
Ankrd28	G	A	14: 31,465,407 (GRCm39)		probably benign	Het
Aoc3	A	G	11: 101,227,273 (GRCm39)	D382G	possibly damaging	Het
Apob	C	A	12: 8,060,742 (GRCm39)	R3075S	probably benign	Het
Aqr	A	G	2: 113,971,458 (GRCm39)	F459S	probably damaging	Het
Bcr	T	C	10: 74,967,475 (GRCm39)	W570R	probably damaging	Het
Bloc1s5	C	T	13: 38,787,895 (GRCm39)	R163K	probably benign	Het
Bod1	A	T	11: 31,619,267 (GRCm39)	N101K	possibly damaging	Het
Bysl	A	T	17: 47,913,396 (GRCm39)	S296T	probably benign	Het
Chl1	G	A	6: 103,685,503 (GRCm39)		probably null	Het
Clstn1	G	A	4: 149,731,312 (GRCm39)	A885T	probably benign	Het
Cyp3a25	G	T	5: 145,935,356 (GRCm39)	P87T	probably damaging	Het
Dync1h1	T	C	12: 110,623,626 (GRCm39)	V3633A	probably damaging	Het
Dynlt5	T	C	4: 102,859,735 (GRCm39)	Y96H	probably damaging	Het
Elp4	C	A	2: 105,622,622 (GRCm39)	C241F	possibly damaging	Het
Fat4	T	A	3: 39,055,327 (GRCm39)	F4182Y	probably benign	Het
Gabbr2	G	A	4: 46,787,521 (GRCm39)	H381Y	possibly damaging	Het
Gm10577	G	T	4: 100,877,515 (GRCm39)		probably benign	Het
Gm9955	G	T	18: 24,842,314 (GRCm39)		probably benign	Het
Gstm5	T	A	3: 107,804,635 (GRCm39)	I73N	probably damaging	Het
Gypa	T	A	8: 81,223,331 (GRCm39)		probably benign	Het
Hectd2	T	A	19: 36,546,831 (GRCm39)	V64D	probably damaging	Het
Igkv10-95	T	A	6: 68,657,543 (GRCm39)	Y20N	probably benign	Het
Il15	T	C	8: 83,064,188 (GRCm39)		probably benign	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kiz	C	A	2: 146,697,978 (GRCm39)		probably benign	Het
Lcmt2	C	A	2: 120,969,721 (GRCm39)	S234I	probably benign	Het
Lilra5	A	G	7: 4,244,956 (GRCm39)		probably benign	Het
Lin37	T	C	7: 30,255,299 (GRCm39)	E187G	probably damaging	Het
Lrrc37	T	C	11: 103,507,714 (GRCm39)		probably benign	Het
Mcmdc2	T	A	1: 9,982,039 (GRCm39)		probably null	Het
Mdp1	C	A	14: 55,896,726 (GRCm39)	G112*	probably null	Het
Mmp15	T	C	8: 96,098,762 (GRCm39)	Y530H	possibly damaging	Het
Mtss2	T	C	8: 111,454,029 (GRCm39)		probably null	Het
Muc5ac	T	C	7: 141,361,446 (GRCm39)	S1586P	probably benign	Het
Nap1l5	A	T	6: 58,883,757 (GRCm39)	C66S	possibly damaging	Het
Ninl	G	T	2: 150,781,775 (GRCm39)	Q1237K	possibly damaging	Het
Or5p70	A	T	7: 107,994,470 (GRCm39)	T48S	possibly damaging	Het
Or9m1b	T	C	2: 87,836,762 (GRCm39)	E111G	probably damaging	Het
Orc6	T	G	8: 86,027,783 (GRCm39)	S37R	possibly damaging	Het
Papss1	A	C	3: 131,288,854 (GRCm39)	N119H	possibly damaging	Het
Phf13	A	T	4: 152,076,069 (GRCm39)	F278I	probably damaging	Het
Pole2	C	A	12: 69,258,187 (GRCm39)	A239S	probably damaging	Het
Ppt2	T	C	17: 34,845,546 (GRCm39)	D75G	probably damaging	Het
Psd2	A	G	18: 36,136,044 (GRCm39)	D443G	possibly damaging	Het
Psen1	C	A	12: 83,761,594 (GRCm39)	S132*	probably null	Het
Psme4	A	G	11: 30,828,415 (GRCm39)	T1812A	probably damaging	Het
Rasgrf1	T	C	9: 89,797,535 (GRCm39)		probably benign	Het
Reep3	A	G	10: 66,857,518 (GRCm39)		probably benign	Het
Rexo4	A	T	2: 26,848,586 (GRCm39)		probably benign	Het
Rnf6	A	C	5: 146,148,468 (GRCm39)	S183R	probably damaging	Het
Scai	A	T	2: 38,993,749 (GRCm39)	M297K	probably damaging	Het
Scn9a	A	T	2: 66,313,843 (GRCm39)	S1947R	probably benign	Het
Sema6c	T	C	3: 95,080,021 (GRCm39)	C772R	possibly damaging	Het
Skint7	T	C	4: 111,837,542 (GRCm39)	S107P	possibly damaging	Het
Slc24a3	A	G	2: 145,448,715 (GRCm39)	N420D	probably benign	Het
Smc1b	T	C	15: 84,955,021 (GRCm39)	D1077G	possibly damaging	Het
Smg7	G	A	1: 152,742,399 (GRCm39)	P82L	probably damaging	Het
Sp3	A	C	2: 72,801,342 (GRCm39)	F268V	probably damaging	Het
Srms	T	C	2: 180,854,426 (GRCm39)	D47G	probably benign	Het
Ss18	A	C	18: 14,784,238 (GRCm39)	M150R	probably damaging	Het
Taf5	G	A	19: 47,063,293 (GRCm39)	R281Q	probably benign	Het
Tars1	T	C	15: 11,385,259 (GRCm39)	K644R	probably benign	Het
Tinag	C	A	9: 76,859,285 (GRCm39)	W441L	probably damaging	Het
Tmtc1	T	C	6: 148,312,738 (GRCm39)	S244G	probably benign	Het
Tpr	T	C	1: 150,309,476 (GRCm39)	V1670A	possibly damaging	Het
Trpv3	A	G	11: 73,187,640 (GRCm39)		probably benign	Het
Uhrf1	G	T	17: 56,617,742 (GRCm39)	V155L	probably damaging	Het
Ush2a	G	A	1: 188,132,475 (GRCm39)	C899Y	probably damaging	Het
Vmn2r115	G	A	17: 23,578,249 (GRCm39)	R574H	probably benign	Het
Vmn2r63	T	C	7: 42,577,434 (GRCm39)	D368G	probably benign	Het
Vps13a	A	G	19: 16,758,105 (GRCm39)	V10A	probably damaging	Het
Wbp11	A	G	6: 136,791,636 (GRCm39)		probably benign	Het
Zcwpw1	A	G	5: 137,797,854 (GRCm39)	D145G	probably benign	Het
Zfp607a	G	A	7: 27,577,901 (GRCm39)	V324I	probably damaging	Het
Zfp618	A	G	4: 63,052,011 (GRCm39)	I931V	probably benign	Het
Zfp821	T	C	8: 110,451,174 (GRCm39)	V389A	possibly damaging	Het
Zfp976	T	A	7: 42,263,141 (GRCm39)	H232L	probably damaging	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
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
R7482:Mctp1	UTSW	13	76,889,579 (GRCm39)	splice site	probably null
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'- GCACAGCAGCCAGGAATTTGAAAC -3'
(R):5'- ATGCCCATCAGATGCTGGACTTAAC -3'

Sequencing Primer
(F):5'- GCAGCCAGGAATTTGAAACTTTAG -3'
(R):5'- TGCTGGACTTAACAGTATCTCTTATC -3'

Posted On

2013-07-30