Mutagenetix > Incidental Mutation

Incidental Mutation 'R5769:Mctp1'

446455

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

MMRRC Submission

043369-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5769 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76384535-77031810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76759808 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 242 (D242G)

Ref Sequence

ENSEMBL: ENSMUSP00000105212 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

probably damaging
Transcript: ENSMUST00000109583
AA Change: D242G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: D242G

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

possibly damaging
Transcript: ENSMUST00000125209
AA Change: D499G

PolyPhen 2 Score 0.681 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: D499G

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 damaging
Transcript: ENSMUST00000126960
AA Change: D266G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596
AA Change: D266G

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137052

Meta Mutation Damage Score

0.9335

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.8%

Validation Efficiency

98% (65/66)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A430033K04Rik	T	A	5: 138,646,333	V160E	possibly damaging	Het
Abcb1a	A	C	5: 8,683,426	E106A	probably benign	Het
Acap3	A	T	4: 155,902,400	D371V	probably damaging	Het
Ahi1	T	C	10: 20,960,082		probably null	Het
Coq8a	A	G	1: 180,179,116	Y69H	probably damaging	Het
Defb33	T	A	8: 20,897,527	F27I	possibly damaging	Het
Dhx29	T	A	13: 112,953,717	L776Q	probably damaging	Het
Dnah3	G	A	7: 120,089,952	R80*	probably null	Het
Dtna	A	T	18: 23,651,554	D646V	probably benign	Het
Eml5	T	A	12: 98,790,619	D1964V	probably damaging	Het
Fbn2	A	T	18: 58,105,199	N575K	probably damaging	Het
Fbxo38	G	A	18: 62,514,965	P834L	probably benign	Het
Fyb2	G	T	4: 105,013,321	K706N	probably damaging	Het
Fyb2	T	A	4: 105,015,644	V738E	probably damaging	Het
Gcm1	A	G	9: 78,064,967	T397A	probably benign	Het
Gins1	A	T	2: 150,925,998	E149D	probably damaging	Het
Gm11595	G	A	11: 99,772,555	R100C	unknown	Het
Gm12845	A	C	4: 117,728,965		probably benign	Het
Gm14124	A	G	2: 150,268,278	E296G	possibly damaging	Het
Grin2a	C	T	16: 9,761,526	R291K	possibly damaging	Het
Hdac10	T	C	15: 89,123,616	M646V	probably benign	Het
Hes6	G	T	1: 91,412,949	R38S	probably damaging	Het
Hipk3	G	A	2: 104,434,953	P667S	possibly damaging	Het
Jrk	T	C	15: 74,706,068	Q456R	probably benign	Het
Loxl3	A	G	6: 83,050,600	T708A	probably damaging	Het
Lyg1	T	C	1: 37,950,750	S19G	unknown	Het
Magel2	T	A	7: 62,378,113	M255K	probably benign	Het
Med13	A	T	11: 86,346,003	N109K	probably benign	Het
Mms19	A	G	19: 41,964,386	F95L	probably damaging	Het
Nav1	A	G	1: 135,452,257	L1569P	probably damaging	Het
Nup188	A	G	2: 30,330,735	E940G	probably benign	Het
Oas1d	T	C	5: 120,916,854	F163S	probably benign	Het
Odf2l	A	G	3: 145,135,731	K304R	possibly damaging	Het
Otud3	T	A	4: 138,898,110	N211I	possibly damaging	Het
Pabpc6	A	T	17: 9,667,843	L593*	probably null	Het
Pdcd11	T	A	19: 47,102,637	L350Q	possibly damaging	Het
Pdia4	A	G	6: 47,815,512		probably benign	Het
Pik3cb	G	A	9: 99,093,159	Q223*	probably null	Het
Plb1	G	A	5: 32,317,522	V696M	probably benign	Het
Ppp2r5a	T	C	1: 191,372,666	D61G	probably benign	Het
Preb	G	T	5: 30,958,291	Y87*	probably null	Het
Rdh16f2	A	T	10: 127,876,889	N252I	probably benign	Het
Rida	T	C	15: 34,484,558		probably benign	Het
Rxrb	T	C	17: 34,032,847		probably benign	Het
Sis	T	A	3: 72,928,235	K931N	probably damaging	Het
Srcap	T	A	7: 127,559,822		probably benign	Het
Srp68	A	G	11: 116,246,669	S525P	probably damaging	Het
Susd2	C	T	10: 75,638,019	A581T	probably damaging	Het
Synj1	A	G	16: 90,938,253		probably benign	Het
Syt12	T	C	19: 4,451,044	Y326C	probably damaging	Het
Tesk2	A	G	4: 116,802,315		probably null	Het
Tmem41b	G	A	7: 109,978,738	T113I	possibly damaging	Het
Tmtc2	T	C	10: 105,370,046	I463V	probably benign	Het
Trak1	A	T	9: 121,448,838	D320V	probably damaging	Het
Ushbp1	A	T	8: 71,386,219	N570K	probably benign	Het
Vmn1r33	T	A	6: 66,611,833	I246F	possibly damaging	Het
Vmn2r54	A	C	7: 12,615,282	L791R	possibly damaging	Het
Washc1	A	T	17: 66,118,116	T372S	probably benign	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
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
R6331:Mctp1	UTSW	13	77020863	critical splice donor 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
R7482:Mctp1	UTSW	13	76741460	splice site	probably null
R7890:Mctp1	UTSW	13	76827757	missense	probably damaging	1.00
R7942:Mctp1	UTSW	13	76641710	critical splice acceptor site	probably null
R8029:Mctp1	UTSW	13	77029886	missense	probably damaging	1.00
R8034:Mctp1	UTSW	13	76891551	missense	probably damaging	0.99
R8085:Mctp1	UTSW	13	76824853	missense	probably benign	0.00
R8258:Mctp1	UTSW	13	76801547	critical splice donor site	probably null
R8259:Mctp1	UTSW	13	76801547	critical splice donor site	probably null
R8286:Mctp1	UTSW	13	76757055	missense	probably benign	0.22
R8713:Mctp1	UTSW	13	76641803	missense	probably benign
R9029:Mctp1	UTSW	13	76688622	missense	probably benign	0.36
R9218:Mctp1	UTSW	13	76723697	missense	possibly damaging	0.94
R9447:Mctp1	UTSW	13	76579785	missense	probably benign	0.00
R9457:Mctp1	UTSW	13	76384674	missense	probably benign
R9670:Mctp1	UTSW	13	76384721	missense	probably benign	0.01
Z1189:Mctp1	UTSW	13	76823042	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGGTTGAATGAACTACCGCCC -3'
(R):5'- GTCATGGAATCCACACCCTAGC -3'

Sequencing Primer
(F):5'- GGTTGAATGAACTACCGCCCTTAAG -3'
(R):5'- GAAGGTTCCTTCCTTCGA -3'

Posted On

2016-11-21