Mutagenetix > Incidental Mutations

Incidental Mutation 'R8034:Mctp1'

618144

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 #

R8034 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

76384535-77031810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to C at 76891551 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 783 (L783F)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000109583
AA Change: L526F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: L526F

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 damaging
Transcript: ENSMUST00000125209
AA Change: L783F

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: L783F

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arap1	A	G	7: 101,394,773	T680A	probably damaging	Het
Asb3	C	A	11: 31,081,554	Y391*	probably null	Het
BC067074	A	T	13: 113,342,511	I1530F		Het
Bean1	CT	C	8: 104,182,032		probably null	Het
C130026I21Rik	T	A	1: 85,254,160	T180S	probably benign	Het
Ccdc80	A	G	16: 45,122,875	I783V	probably damaging	Het
Ccnf	A	G	17: 24,231,831	V391A	probably damaging	Het
Cd5l	C	A	3: 87,365,964	A80E	possibly damaging	Het
Chmp2b	A	T	16: 65,546,883	M96K	probably benign	Het
Dennd4a	T	C	9: 64,888,568	S725P	probably benign	Het
Dnah6	T	C	6: 73,129,225	N1843S	probably damaging	Het
Dpy19l3	A	G	7: 35,749,856	F41L	probably benign	Het
Eif3e	A	T	15: 43,272,307	M112K	probably benign	Het
Faim	T	C	9: 98,992,733	V111A	possibly damaging	Het
Fat1	A	G	8: 44,951,691	E493G	probably benign	Het
Fsip2	A	G	2: 82,989,355	D5144G	possibly damaging	Het
Fuz	T	C	7: 44,896,260	M1T	probably null	Het
Ggcx	T	C	6: 72,428,604	V529A	possibly damaging	Het
Gm7145	A	T	1: 117,986,164	T259S	probably benign	Het
Gria2	T	G	3: 80,801,699	T59P	probably damaging	Het
H2-Q10	A	T	17: 35,470,441	I47F	probably damaging	Het
Heatr6	A	G	11: 83,753,909	N63D	probably benign	Het
Ints7	CCGGATCG	CCGGATCGGATCG	1: 191,613,068		probably null	Het
Ints7	GATCG	GATCGTATCG	1: 191,613,071		probably null	Het
Lcn6	T	A	2: 25,676,871	L19*	probably null	Het
Lhcgr	T	C	17: 88,742,356	T581A	probably damaging	Het
Map4k1	T	C	7: 28,988,148	I203T	probably damaging	Het
Mlf1	A	T	3: 67,384,588	M29L	probably damaging	Het
Npas3	T	A	12: 53,640,529	I159N	probably damaging	Het
Nup98	T	C	7: 102,145,723		probably null	Het
Olfr1238	A	G	2: 89,406,737	V114A	probably benign	Het
Olfr1464-ps1	A	G	19: 13,282,851	F69S	probably damaging	Het
Olfr572	A	T	7: 102,928,566	K313*	probably null	Het
Olfr734	T	C	14: 50,320,566	K90E	probably damaging	Het
Olfr867	A	G	9: 20,055,005	F35L	probably benign	Het
Olfr890	T	C	9: 38,143,677	Y176H	probably damaging	Het
Otud3	T	C	4: 138,895,800	S377G	probably benign	Het
Pclo	T	A	5: 14,521,200	S200T	probably damaging	Het
Pex6	G	C	17: 46,722,399	G616A	possibly damaging	Het
Pkhd1	T	A	1: 20,381,438	H2211L	possibly damaging	Het
Sec13	T	C	6: 113,735,089	K95R	probably benign	Het
Sema3c	T	C	5: 17,727,482	V661A	probably damaging	Het
Sema5a	A	G	15: 32,574,841	Y365C	probably damaging	Het
Sprr2h	A	T	3: 92,386,813	E61V	unknown	Het
Tead3	A	C	17: 28,333,229	V365G	probably damaging	Het
Trpm7	T	A	2: 126,846,199	N236I	probably damaging	Het
Ubxn2b	A	G	4: 6,191,167	E13G	probably benign	Het
Zfp639	C	A	3: 32,520,066	A280E	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
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
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
Z1189:Mctp1	UTSW	13	76823042	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGCCAGTGACTTTCCAGGAG -3'
(R):5'- CTCCAAAGTTGAATATTGACAGGC -3'

Sequencing Primer
(F):5'- ACTTTCCAGGAGTCAGATGTGC -3'
(R):5'- ACAGGCAAGTTTCTGGTTTATAAGGC -3'

Posted On

2020-01-23