Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01355:Mctp1'

75492

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01355

Quality Score

Status

Chromosome

Chromosomal Location

76384535-77031810 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76384955 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 141 (T141A)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

unknown
Transcript: ENSMUST00000099365
AA Change: V25A

SMART Domains

Protein: ENSMUSP00000096966
Gene: ENSMUSG00000074798
AA Change: V25A

Domain	Start	End	E-Value	Type
low complexity region	2	15	N/A	INTRINSIC
low complexity region	17	29	N/A	INTRINSIC
low complexity region	37	46	N/A	INTRINSIC
low complexity region	103	117	N/A	INTRINSIC
low complexity region	122	136	N/A	INTRINSIC
low complexity region	174	201	N/A	INTRINSIC
low complexity region	220	231	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000125209
AA Change: T141A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: T141A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ajap1	C	T	4: 153,386,481	V290I	probably damaging	Het
Ankrd12	A	G	17: 65,970,340		probably benign	Het
Anxa4	A	T	6: 86,752,205	I140N	probably damaging	Het
Asap2	A	G	12: 21,218,086		probably benign	Het
Cd36	C	T	5: 17,813,074	V214I	possibly damaging	Het
Col24a1	T	C	3: 145,314,876	L336S	probably benign	Het
Dcc	C	T	18: 71,809,114	V311I	probably benign	Het
Gpr146	A	T	5: 139,378,904		probably benign	Het
Irf1	T	C	11: 53,774,361	V188A	probably benign	Het
Limk1	G	A	5: 134,657,900		probably benign	Het
Mcidas	T	C	13: 112,999,069	F342S	probably damaging	Het
Mnd1	C	A	3: 84,116,477	A101S	probably benign	Het
Nsun7	T	C	5: 66,294,868	S466P	probably damaging	Het
Olfr1279	T	A	2: 111,307,093	I296K	probably benign	Het
Olfr165	C	T	16: 19,407,583	M145I	probably benign	Het
Olfr617	A	G	7: 103,584,373	E117G	probably damaging	Het
Pik3c2g	G	T	6: 139,852,857	G371V	probably damaging	Het
Sdad1	A	G	5: 92,302,679	V199A	probably damaging	Het
Spg11	C	T	2: 122,113,156	V172I	probably benign	Het
Tas2r108	A	G	6: 40,493,751	T54A	possibly damaging	Het
Tmem121b	A	G	6: 120,492,466	L430P	probably damaging	Het
Traf3ip1	A	G	1: 91,518,297	D384G	probably damaging	Het
Trank1	A	G	9: 111,365,520	T871A	possibly damaging	Het
Vegfa	T	C	17: 46,025,421	M258V	possibly damaging	Het
Zbtb49	A	G	5: 38,210,616		probably null	Het

Other mutations in Mctp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01089:Mctp1	APN	13	77020798	missense	probably damaging	0.98
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
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

Posted On

2013-10-07