Mutagenetix > Incidental Mutation

Incidental Mutation 'R9670:Mctp1'

728011

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

2810465F10Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9670 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76532259-77179929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76532840 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 63 (T63S)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

probably benign
Transcript: ENSMUST00000125209
AA Change: T63S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: T63S

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,770,894 (GRCm39)	T28A	probably benign	Het
Adam15	T	C	3: 89,253,270 (GRCm39)	I220V	probably benign	Het
Atf7ip2	T	A	16: 10,058,512 (GRCm39)	V317E	probably benign	Het
Bin3	T	G	14: 70,367,009 (GRCm39)		probably null	Het
Bnip3l	G	A	14: 67,246,214 (GRCm39)	P7L	possibly damaging	Het
Brd2	T	C	17: 34,334,205 (GRCm39)	T286A	possibly damaging	Het
Cers6	A	G	2: 68,833,114 (GRCm39)	Y144C	probably benign	Het
Cox4i2	C	A	2: 152,602,610 (GRCm39)	N101K	probably damaging	Het
Dguok	T	A	6: 83,463,999 (GRCm39)	L186F	probably benign	Het
Dock8	A	G	19: 25,148,926 (GRCm39)	N1468S	probably null	Het
Eral1	T	C	11: 77,965,410 (GRCm39)	H335R		Het
Gm3248	A	T	14: 5,944,993 (GRCm38)	I63K	probably benign	Het
Gm3415	A	C	5: 146,493,376 (GRCm39)	I74L	probably benign	Het
Kdm5b	A	T	1: 134,558,240 (GRCm39)	R1416*	probably null	Het
Lrit2	T	A	14: 36,790,115 (GRCm39)	C28*	probably null	Het
Ncbp3	T	A	11: 72,944,323 (GRCm39)	N108K	possibly damaging	Het
Nlrp4b	A	G	7: 10,448,651 (GRCm39)	I285V	probably benign	Het
Nup85	C	T	11: 115,457,471 (GRCm39)	R58W	probably benign	Het
Pcnx4	T	C	12: 72,613,792 (GRCm39)	V579A	probably benign	Het
Pde10a	T	C	17: 9,020,272 (GRCm39)	S70P	unknown	Het
Pfpl	T	C	19: 12,407,107 (GRCm39)	F453L	probably damaging	Het
Ppp3cb	C	A	14: 20,578,314 (GRCm39)	L145F	probably damaging	Het
Prg4	T	C	1: 150,326,618 (GRCm39)	K357R	probably benign	Het
Prkcb	G	T	7: 122,233,070 (GRCm39)	E656*	probably null	Het
Prrc2b	C	A	2: 32,103,199 (GRCm39)	H892Q	probably benign	Het
Pxk	T	C	14: 8,140,748 (GRCm38)		probably null	Het
Ruvbl1	T	C	6: 88,444,558 (GRCm39)	V51A	probably benign	Het
Ryr3	C	A	2: 112,560,845 (GRCm39)	R2972L	probably benign	Het
Sec14l1	A	G	11: 117,046,058 (GRCm39)	I542V	possibly damaging	Het
Selplg	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	GTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCTGCCTCCATGGGTGCTGGCTGCGAGGTCTCT	5: 113,957,756 (GRCm39)		probably benign	Het
Sgk1	AAGA	AAGAGA	10: 21,868,290 (GRCm39)		probably null	Het
Slc26a9	C	A	1: 131,681,688 (GRCm39)	A167E	probably benign	Het
Tarbp1	A	T	8: 127,183,262 (GRCm39)	L519Q	probably null	Het
Trak2	G	A	1: 58,985,463 (GRCm39)	R12*	probably null	Het
Ush2a	A	G	1: 188,360,768 (GRCm39)	I2163V	probably benign	Het
Vmn2r114	T	A	17: 23,531,098 (GRCm39)	N64Y		Het
Wdfy4	T	C	14: 32,769,219 (GRCm39)	Y2236C		Het
Zfp316	A	T	5: 143,240,348 (GRCm39)	V557E	possibly 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
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
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
Z1189:Mctp1	UTSW	13	76,971,161 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGAAACTTTGCAGGACGGCC -3'
(R):5'- TGTACTCTCATCACGGACGC -3'

Sequencing Primer
(F):5'- AGCCGTTTTGCTCCGAG -3'
(R):5'- AGCAGATGTTCGCGTAGGC -3'

Posted On

2022-10-06