Mutagenetix > Incidental Mutations

Incidental Mutation 'R0138:Mctp1'

22127

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

MMRRC Submission

038423-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0138 (G1)

Quality Score

196

Status

Validated (trace)

Chromosome

Chromosomal Location

76384535-77031810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 76827712 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 478 (R478C)

Ref Sequence

ENSEMBL: ENSMUSP00000105212 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

probably damaging
Transcript: ENSMUST00000109583
AA Change: R478C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: R478C

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: R735C

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: R735C

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

Meta Mutation Damage Score

0.3486

Coding Region Coverage

1x: 99.0%
3x: 98.3%
10x: 96.4%
20x: 92.8%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca4	T	A	3: 122,105,449	N693K	probably damaging	Het
Adgrl3	T	A	5: 81,693,607	V845D	probably damaging	Het
Anxa8	T	A	14: 34,097,939	F269Y	probably benign	Het
Anxa8	T	A	14: 34,097,940	F295L	possibly damaging	Het
Aox4	C	G	1: 58,228,866	L202V	probably damaging	Het
Ap3s2	A	G	7: 79,909,869	V104A	probably benign	Het
Aqp3	G	A	4: 41,094,843		probably benign	Het
Arhgef26	C	T	3: 62,448,259	H751Y	probably benign	Het
Asic4	A	T	1: 75,469,687	Q291L	possibly damaging	Het
Bap1	T	C	14: 31,256,724	Y31H	probably damaging	Het
Brf1	A	T	12: 112,961,139	V655D	probably damaging	Het
Cebpz	A	G	17: 78,931,391	S663P	probably benign	Het
Ces2h	A	G	8: 105,018,061	D357G	probably benign	Het
Cfap36	T	C	11: 29,244,073	T90A	probably benign	Het
Ciita	A	T	16: 10,512,270	D803V	probably damaging	Het
Clnk	C	A	5: 38,774,608		probably benign	Het
Cyp46a1	A	G	12: 108,351,211	N158S	probably damaging	Het
Cyp4f13	A	G	17: 32,941,106	I98T	possibly damaging	Het
Def8	G	A	8: 123,456,495	A278T	probably damaging	Het
Dll3	T	A	7: 28,301,321	D103V	possibly damaging	Het
Dnaic1	T	A	4: 41,629,814	M446K	possibly damaging	Het
Dppa4	A	T	16: 48,291,062	T85S	probably benign	Het
Eif4g1	A	T	16: 20,675,345	H57L	probably damaging	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Fn1	T	A	1: 71,624,110	Q1073L	possibly damaging	Het
Foxp4	T	C	17: 47,869,179	D599G	unknown	Het
Frrs1	T	C	3: 116,881,807	V128A	possibly damaging	Het
Gcfc2	G	A	6: 81,949,954	D608N	probably damaging	Het
Gm1043	T	C	5: 37,192,973		probably benign	Het
Gm5148	T	C	3: 37,714,777	E98G	probably benign	Het
Gpr141	T	C	13: 19,752,258	I116V	probably benign	Het
Hic1	T	C	11: 75,167,343	N240S	probably damaging	Het
Hpx	G	A	7: 105,592,238	T322I	probably damaging	Het
Hs3st4	A	T	7: 124,397,193	M361L	probably benign	Het
Ifrd1	A	G	12: 40,207,130		probably benign	Het
Ino80	G	A	2: 119,382,960	R1249C	probably damaging	Het
Klk1b21	T	A	7: 44,105,895	C173S	probably damaging	Het
Krt25	A	T	11: 99,322,698	V65E	probably benign	Het
Lrrc15	A	T	16: 30,273,449	D357E	possibly damaging	Het
Lrrd1	T	A	5: 3,851,345	V550E	probably benign	Het
Macf1	A	G	4: 123,440,747	Y1490H	probably damaging	Het
Macrod1	A	G	19: 7,196,916		probably benign	Het
Mcm5	T	A	8: 75,120,880	V435D	probably damaging	Het
Med10	T	C	13: 69,811,698		probably benign	Het
Mrpl4	T	C	9: 21,008,592	Y280H	probably benign	Het
Msrb3	T	C	10: 120,851,987	E61G	probably damaging	Het
Myo1c	T	C	11: 75,661,001	Y337H	possibly damaging	Het
Myo7b	T	A	18: 32,010,151	T165S	probably damaging	Het
Myrfl	T	A	10: 116,849,233	R81W	probably damaging	Het
Neil1	T	C	9: 57,143,746		probably benign	Het
Neto2	A	G	8: 85,641,044	I357T	possibly damaging	Het
Nfat5	C	T	8: 107,339,075	R156W	probably damaging	Het
Nkx6-3	T	C	8: 23,153,591	S3P	probably benign	Het
Olfr652	A	T	7: 104,565,003	I261L	probably benign	Het
Plce1	T	C	19: 38,524,419	I54T	possibly damaging	Het
Prex2	A	T	1: 11,285,043		probably benign	Het
Psapl1	T	A	5: 36,204,631	V189E	probably damaging	Het
Ptdss2	T	G	7: 141,155,319		probably benign	Het
Rnf213	T	C	11: 119,416,496	C661R	probably benign	Het
Rpap1	T	C	2: 119,764,899		probably null	Het
Rrp1b	A	G	17: 32,060,452	T696A	probably benign	Het
Sacm1l	T	A	9: 123,548,917	H87Q	probably benign	Het
Serpinb11	T	A	1: 107,377,530	M212K	probably damaging	Het
Tbc1d22a	C	A	15: 86,299,684	T248K	probably damaging	Het
Tcerg1	C	T	18: 42,568,614		probably benign	Het
Tpst1	T	A	5: 130,101,786	H32Q	probably damaging	Het
Tsc2	A	T	17: 24,599,626	V1412E	possibly damaging	Het
Usp19	C	A	9: 108,501,315	P1326Q	possibly damaging	Het
Vmn1r235	T	A	17: 21,262,334	M307K	probably damaging	Het
Vmn2r58	T	A	7: 41,837,624	T616S	probably damaging	Het
Vps13a	G	A	19: 16,660,499	T2406I	possibly damaging	Het
Zbtb26	T	A	2: 37,436,041	M328L	probably benign	Het
Zp2	A	G	7: 120,137,200	F340S	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
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
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
Z1189:Mctp1	UTSW	13	76823042	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGATTTGAAGACAGGAGCAGTCCTAGT -3'
(R):5'- GCCACAGAGACTTGGAGCTAAGATGAC -3'

Sequencing Primer
(F):5'- CTTTAAATGGTGAGCCAAGTAGC -3'
(R):5'- CTTGGAGCTAAGATGACTGAATCTG -3'

Posted On

2013-04-12