Mutagenetix > Incidental Mutations

Incidental Mutation 'R6331:Mctp1'

510936

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6331 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76384535-77031810 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to A at 77020863 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

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

Meta Mutation Damage Score

0.9501

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 97.8%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110002H16Rik	G	A	18: 12,180,514	R228H	probably damaging	Het
9930021J03Rik	C	T	19: 29,717,747	V1449I	probably benign	Het
A2ml1	T	C	6: 128,552,236	D981G	probably damaging	Het
Abcc1	C	A	16: 14,465,056	A1132D	probably damaging	Het
Adamts12	A	G	15: 11,241,433	T364A	probably damaging	Het
Ahnak	A	T	19: 9,006,625	M1758L	probably benign	Het
Ak9	T	C	10: 41,382,829	V774A	probably damaging	Het
Ash1l	A	G	3: 89,007,865	E1934G	probably benign	Het
Atp2b2	C	T	6: 113,797,131	A341T	probably benign	Het
Bach2	G	T	4: 32,238,816		probably benign	Het
Ccdc102a	T	C	8: 94,911,516	T241A	probably benign	Het
Chd5	G	T	4: 152,382,408	R1627S	probably benign	Het
Clint1	T	C	11: 45,895,081	S322P	probably benign	Het
Dapk1	T	A	13: 60,729,442	C498*	probably null	Het
Diaph3	T	G	14: 86,866,540	S803R	probably damaging	Het
Dmp1	T	C	5: 104,207,125	L10P	probably damaging	Het
Gcc2	T	C	10: 58,271,465	V741A	probably benign	Het
Gldn	A	G	9: 54,286,878	M119V	probably benign	Het
Gucy1b1	A	G	3: 82,034,411	S574P	possibly damaging	Het
Hapln4	T	A	8: 70,084,423		probably benign	Het
Hars	A	G	18: 36,771,332	V209A	probably benign	Het
Htt	T	A	5: 34,895,887	F2521L	possibly damaging	Het
Kif14	A	G	1: 136,515,986	D1299G	probably null	Het
Krt25	T	A	11: 99,317,427	E325V	probably damaging	Het
Lcmt1	T	C	7: 123,378,182		probably benign	Het
Lrp1b	A	T	2: 40,803,209	N3266K	probably damaging	Het
Marc2	A	G	1: 184,819,328	S304P	probably damaging	Het
Myo5b	G	A	18: 74,616,993	A176T	probably damaging	Het
Myom3	A	G	4: 135,776,377	N379S	possibly damaging	Het
Nbea	A	T	3: 56,000,616	D1358E	possibly damaging	Het
Nod1	T	C	6: 54,924,983	E939G	probably damaging	Het
Obox1	A	G	7: 15,555,369	R70G	probably benign	Het
Olfr1024	T	C	2: 85,904,216	I279M	probably benign	Het
Olfr1239	C	T	2: 89,418,351	G21S	probably benign	Het
Olfr1341	A	G	4: 118,709,947	E180G	probably benign	Het
Olfr272	A	G	4: 52,911,399	Y132H	probably damaging	Het
Otof	T	C	5: 30,371,935	D1745G	possibly damaging	Het
Pklr	A	G	3: 89,137,355	I47V	probably damaging	Het
Pms2	T	A	5: 143,914,633	S123T	possibly damaging	Het
Pnpla2	T	C	7: 141,459,285	S337P	probably damaging	Het
Ptgfrn	A	C	3: 101,045,620	V766G	possibly damaging	Het
Ptpn11	T	A	5: 121,144,653	H419L	probably damaging	Het
Rims3	T	A	4: 120,883,153	V99E	probably damaging	Het
Samd9l	A	G	6: 3,376,361	V300A	probably damaging	Het
Sdad1	T	C	5: 92,303,930	D144G	probably damaging	Het
Siglecg	T	C	7: 43,408,754	Y22H	possibly damaging	Het
Slc39a1	A	G	3: 90,252,281	K305R	possibly damaging	Het
Slc5a4a	A	G	10: 76,178,200	R414G	probably damaging	Het
Smg1	T	C	7: 118,154,277		probably benign	Het
Tbc1d9b	C	T	11: 50,131,497	A20V	possibly damaging	Het
Tgfb3	G	T	12: 86,063,864	D237E	probably benign	Het
Tle6	A	G	10: 81,595,239	S234P	probably benign	Het
Tnrc6b	A	G	15: 80,879,614	N439S	probably benign	Het
Trim33	T	C	3: 103,341,609	S783P	probably benign	Het
Ttn	A	T	2: 76,802,354	Y12373N	probably damaging	Het
Tube1	G	A	10: 39,134,101	V7I	probably benign	Het
Tufm	T	C	7: 126,489,238	V265A	probably benign	Het
Uhrf1bp1	T	C	17: 27,893,201	I1150T	probably benign	Het
Usp32	T	C	11: 84,986,576	H1550R	possibly damaging	Het
Usp33	A	T	3: 152,376,250	M546L	probably damaging	Het
Uspl1	C	A	5: 149,214,287	Q752K	probably benign	Het
Vmn1r20	A	G	6: 57,431,670		probably null	Het
Vmn1r201	T	C	13: 22,475,351	F245S	probably damaging	Het
Vmn2r3	A	G	3: 64,278,761	S168P	probably damaging	Het
Wdr24	T	G	17: 25,825,676	D168E	possibly damaging	Het
Zfp646	C	T	7: 127,883,681	P1677S	probably damaging	Het

Other mutations in Mctp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Mctp1	APN	13	77020798	missense	probably damaging	0.98
IGL01355:Mctp1	APN	13	76384955	missense	probably benign
IGL02192:Mctp1	APN	13	76731768	intron	probably benign
IGL02342:Mctp1	APN	13	77024857	missense	probably damaging	1.00
IGL02706:Mctp1	APN	13	76823069	missense	probably damaging	1.00
IGL02950:Mctp1	APN	13	77024810	missense	probably damaging	1.00
IGL03064:Mctp1	APN	13	76801513	nonsense	probably null
IGL03230:Mctp1	APN	13	76824857	missense	possibly damaging	0.49
R0138:Mctp1	UTSW	13	76827712	missense	probably damaging	1.00
R0355:Mctp1	UTSW	13	76824863	missense	probably damaging	1.00
R0383:Mctp1	UTSW	13	76801544	missense	probably damaging	1.00
R0426:Mctp1	UTSW	13	77020821	missense	probably benign	0.01
R0462:Mctp1	UTSW	13	76801401	missense	probably damaging	1.00
R0483:Mctp1	UTSW	13	76827727	missense	probably damaging	1.00
R0685:Mctp1	UTSW	13	76825799	critical splice donor site	probably null
R1468:Mctp1	UTSW	13	76825273	missense	probably benign	0.25
R1468:Mctp1	UTSW	13	76825273	missense	probably benign	0.25
R1854:Mctp1	UTSW	13	76825741	missense	probably damaging	0.96
R1864:Mctp1	UTSW	13	76385148	missense	possibly damaging	0.63
R1865:Mctp1	UTSW	13	76385148	missense	possibly damaging	0.63
R1920:Mctp1	UTSW	13	76384610	missense	possibly damaging	0.67
R2071:Mctp1	UTSW	13	76759724	missense	probably damaging	1.00
R2127:Mctp1	UTSW	13	76824822	missense	probably damaging	1.00
R2128:Mctp1	UTSW	13	76824822	missense	probably damaging	1.00
R2129:Mctp1	UTSW	13	76824822	missense	probably damaging	1.00
R3709:Mctp1	UTSW	13	76824880	splice site	probably null
R4463:Mctp1	UTSW	13	76712087	missense	probably damaging	1.00
R4510:Mctp1	UTSW	13	76825272	missense	probably benign	0.20
R4511:Mctp1	UTSW	13	76825272	missense	probably benign	0.20
R4951:Mctp1	UTSW	13	76827775	missense	probably damaging	0.96
R5004:Mctp1	UTSW	13	76641804	missense	possibly damaging	0.79
R5307:Mctp1	UTSW	13	76712079	critical splice acceptor site	probably null
R5339:Mctp1	UTSW	13	76825706	intron	probably benign
R5639:Mctp1	UTSW	13	77024783	splice site	silent
R5769:Mctp1	UTSW	13	76759808	missense	probably damaging	1.00
R5800:Mctp1	UTSW	13	76688559	missense	probably damaging	1.00
R5913:Mctp1	UTSW	13	76759825	splice site	probably null
R5981:Mctp1	UTSW	13	76757110	missense	probably damaging	1.00
R6024:Mctp1	UTSW	13	76385161	missense	probably damaging	0.98
R6192:Mctp1	UTSW	13	76822963	splice site	probably null
R6468:Mctp1	UTSW	13	76731811	critical splice donor site	probably null
R6484:Mctp1	UTSW	13	76688625	missense	probably benign	0.02
R6656:Mctp1	UTSW	13	77029936	missense	probably damaging	0.99
R7026:Mctp1	UTSW	13	76806259	missense	probably benign	0.35

Predicted Primers

PCR Primer
(F):5'- GAGTCCATACGATAAAGCAAGAATC -3'
(R):5'- GGACAGTGTCATTTCTTCAAAGCTAC -3'

Sequencing Primer
(F):5'- TATGCGATCCAGGAAGTC -3'
(R):5'- CCAAATTTCAGGTAGGAAACTGAC -3'

Posted On

2018-04-02