Mutagenetix > Incidental Mutation

Incidental Mutation 'R1854:Mctp1'

205965

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

MMRRC Submission

039878-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1854 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

76384535-77031810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76825741 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 706 (T706S)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

probably benign
Transcript: ENSMUST00000109583
AA Change: T449S

PolyPhen 2 Score 0.165 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: T449S

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 damaging
Transcript: ENSMUST00000125209
AA Change: T706S

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: T706S

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

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 113 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	C	T	16: 88,707,780	R43K	possibly damaging	Het
Acp1	A	G	12: 30,897,805	I78T	possibly damaging	Het
Afap1l1	G	T	18: 61,743,294	D417E	probably benign	Het
Agap2	G	A	10: 127,080,516	V299I	unknown	Het
Ahnak	C	T	19: 9,013,832	A4160V	possibly damaging	Het
Anapc1	T	C	2: 128,675,890	E278G	probably damaging	Het
Atad2	G	A	15: 58,097,289	P971L	possibly damaging	Het
Atg2a	A	G	19: 6,252,431	E928G	probably benign	Het
Atp2b2	A	C	6: 113,842,283	N16K	probably damaging	Het
Atp6ap1l	T	C	13: 90,883,588	E325G	probably damaging	Het
Bfsp2	C	T	9: 103,449,831	G236S	probably benign	Het
Ccar1	A	T	10: 62,764,517	I545N	probably damaging	Het
Ccser2	A	G	14: 36,918,591	C11R	possibly damaging	Het
Cdc42bpg	A	T	19: 6,320,807	H1310L	possibly damaging	Het
Ces1h	T	C	8: 93,358,822	K339E	probably benign	Het
Cit	A	G	5: 115,873,901	Y189C	probably damaging	Het
Cnih3	C	A	1: 181,454,621	S140*	probably null	Het
Cntrl	A	G	2: 35,122,684	D278G	probably damaging	Het
Col24a1	G	A	3: 145,459,140	G1033D	probably damaging	Het
Col6a1	T	G	10: 76,721,949	Y151S	probably damaging	Het
Col6a2	T	A	10: 76,614,812	Q95L	probably damaging	Het
Cpd	G	T	11: 76,786,338	P1185Q	probably damaging	Het
Cycs	T	A	6: 50,565,329	I76F	possibly damaging	Het
Cyp4f16	T	A	17: 32,537,099	I34N	probably damaging	Het
Ddx1	A	C	12: 13,229,331	S436A	probably benign	Het
Defa30	A	G	8: 21,135,484	Y88C	probably damaging	Het
Dhx30	G	A	9: 110,088,672	L317F	probably damaging	Het
Dll3	C	A	7: 28,296,410	G322V	probably damaging	Het
Dnah10	G	A	5: 124,804,689	D2843N	probably damaging	Het
Dnaja3	C	T	16: 4,697,269	T266I	probably damaging	Het
Dpp9	T	C	17: 56,202,885	I314V	probably benign	Het
E030025P04Rik	A	G	11: 109,143,918	V48A	unknown	Het
Enpp2	C	T	15: 54,845,823	E803K	probably damaging	Het
Eri3	G	A	4: 117,649,365	G297D	probably benign	Het
Esp34	A	G	17: 38,559,533	E38G	possibly damaging	Het
Fabp3	C	T	4: 130,312,387	T57I	probably benign	Het
Fam122b	T	A	X: 53,254,056	Q201H	probably benign	Het
Frzb	A	G	2: 80,446,380	V154A	possibly damaging	Het
Fsip2	G	T	2: 82,993,257	A6445S	possibly damaging	Het
Gm11938	G	A	11: 99,603,017	T84I	possibly damaging	Het
Gm4787	T	A	12: 81,378,334	H350L	probably damaging	Het
Gpa33	A	G	1: 166,165,190	I291V	probably benign	Het
Gpr158	A	G	2: 21,369,124	Y290C	probably damaging	Het
Gpsm1	G	T	2: 26,344,713	G84W	probably damaging	Het
Hormad1	A	G	3: 95,580,006	N267S	probably benign	Het
Htr2a	A	T	14: 74,705,753	I258F	probably damaging	Het
Htra4	T	C	8: 25,033,581	T323A	probably damaging	Het
Ift140	T	A	17: 25,035,839	F162Y	probably benign	Het
Islr2	T	C	9: 58,199,816	T54A	probably damaging	Het
Kcna4	T	G	2: 107,296,484	V521G	probably damaging	Het
Kdr	C	T	5: 75,952,905	G768S	possibly damaging	Het
Kif6	G	T	17: 49,901,771	A740S	probably benign	Het
Lad1	T	A	1: 135,827,730	V248E	probably damaging	Het
Lamb1	T	G	12: 31,318,272	C1134G	probably damaging	Het
Lamc1	A	G	1: 153,249,872	Y552H	probably damaging	Het
Maats1	T	C	16: 38,324,297		probably null	Het
Med12l	A	G	3: 59,260,772	Y1541C	probably damaging	Het
Mnx1	C	T	5: 29,477,782	S165N	unknown	Het
Morn3	A	T	5: 123,046,629		probably null	Het
Nalcn	C	T	14: 123,460,412	R484Q	probably damaging	Het
Nr4a1	T	C	15: 101,271,764	I305T	probably benign	Het
Olfr30	G	A	11: 58,455,431	R173W	probably damaging	Het
Olfr339	C	T	2: 36,421,874	H159Y	probably damaging	Het
Pcdhb5	T	C	18: 37,322,340	V591A	possibly damaging	Het
Pdia3	T	C	2: 121,431,663	I205T	probably benign	Het
Pdia4	A	T	6: 47,813,227	D26E	unknown	Het
Phactr3	C	A	2: 178,283,147	L292M	probably damaging	Het
Phf21b	T	A	15: 84,854,762	I21F	probably benign	Het
Pign	A	G	1: 105,554,498	V791A	probably damaging	Het
Pitpna	A	G	11: 75,609,103		probably null	Het
Piwil1	G	T	5: 128,747,839	E534*	probably null	Het
Plcz1	T	A	6: 139,993,049	I526F	probably benign	Het
Pms2	A	T	5: 143,925,896	K607I	probably benign	Het
Pnn	T	A	12: 59,071,613	N327K	probably damaging	Het
Pogz	C	T	3: 94,878,849	T863I	probably benign	Het
Polq	C	T	16: 37,062,109	T1545I	probably benign	Het
Psd4	G	A	2: 24,397,456	E467K	probably benign	Het
Pstpip2	T	A	18: 77,871,799	L198Q	probably damaging	Het
Pzp	T	C	6: 128,502,225	Y655C	probably damaging	Het
Qrsl1	C	T	10: 43,894,545	G117E	probably damaging	Het
Rad54b	G	A	4: 11,601,669	C408Y	probably damaging	Het
Ralb	T	A	1: 119,476,067	Q110L	possibly damaging	Het
Rrm2	A	G	12: 24,713,152	K218E	probably damaging	Het
Siglece	A	G	7: 43,659,936	F66S	probably benign	Het
Slc17a8	A	T	10: 89,606,765	C69S	unknown	Het
Slc1a6	T	A	10: 78,812,924	V493E	probably damaging	Het
Slc38a11	A	T	2: 65,363,516		probably null	Het
Smarcal1	G	A	1: 72,586,099	G135D	possibly damaging	Het
Snrnp70	T	A	7: 45,377,220	R242*	probably null	Het
St3gal5	T	C	6: 72,132,093	L55P	probably damaging	Het
Sulf1	A	G	1: 12,838,437	N558S	probably benign	Het
Supt6	T	C	11: 78,232,540	I104V	possibly damaging	Het
Tas2r113	T	A	6: 132,893,329	Y107N	probably damaging	Het
Tcf7	A	G	11: 52,257,064	V187A	probably benign	Het
Tdrd9	G	A	12: 112,044,812	G1152R	probably damaging	Het
Tfpi	A	G	2: 84,458,107	Y9H	probably benign	Het
Tnk2	G	A	16: 32,680,142	V758I	probably damaging	Het
Trim72	A	G	7: 128,009,082	I251V	probably benign	Het
Trip12	T	A	1: 84,728,145	N655Y	probably damaging	Het
Ttn	A	G	2: 76,751,429	V23040A	probably damaging	Het
Tulp2	T	A	7: 45,517,943	N188K	probably damaging	Het
Ube2c	C	T	2: 164,771,362	H67Y	probably damaging	Het
Unc80	C	A	1: 66,631,414	P1899T	possibly damaging	Het
Usp34	C	T	11: 23,426,153	A1879V	probably benign	Het
Vmn2r118	G	A	17: 55,611,556	S112L	possibly damaging	Het
Wdfy3	A	T	5: 101,888,186	V2122E	probably benign	Het
Zcchc4	A	G	5: 52,815,826	Y344C	probably damaging	Het
Zdbf2	GAAAAA	GAAAAAA	1: 63,305,542		probably null	Het
Zdhhc25	A	T	15: 88,600,486	H8L	probably benign	Het
Zfp455	A	T	13: 67,207,817	H383L	probably damaging	Het
Zfp663	A	G	2: 165,353,291	I336T	probably benign	Het
Zfp738	T	A	13: 67,670,357	H505L	probably damaging	Het
Zfp84	T	G	7: 29,775,371	F23V	possibly 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
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
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'- ACACTTTCTGTTGGGACCTGC -3'
(R):5'- GAAAATTTCCACTGACTTCCCC -3'

Sequencing Primer
(F):5'- CCTGCTTGAGAGAGGGACATGC -3'
(R):5'- ACTGACTTCCCCCATTCCAGAC -3'

Posted On

2014-06-23