Mutagenetix > Incidental Mutation

Incidental Mutation 'R6656:Mctp1'

526636

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

2810465F10Rik

MMRRC Submission

044777-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6656 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

76532259-77179929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 77178055 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 947 (K947N)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

possibly damaging
Transcript: ENSMUST00000109583
AA Change: K690N

PolyPhen 2 Score 0.737 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: K690N

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: K947N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: K947N

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

Meta Mutation Damage Score

0.1163

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.8%

Validation Efficiency

97% (35/36)

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ahctf1	T	C	1: 179,581,078 (GRCm39)	N1708S	probably benign	Het
Ahnak2	C	T	12: 112,748,991 (GRCm39)	M285I	probably benign	Het
Angptl1	A	T	1: 156,684,806 (GRCm39)	D325V	probably damaging	Het
Anln	A	T	9: 22,262,298 (GRCm39)	V931E	probably damaging	Het
Ascc3	C	T	10: 50,526,021 (GRCm39)	R578*	probably null	Het
B3galnt2	C	T	13: 14,150,161 (GRCm39)	A168V	probably benign	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cd22	T	C	7: 30,577,182 (GRCm39)	I42V	probably benign	Het
Cyp2b19	C	T	7: 26,466,280 (GRCm39)	T361I	probably benign	Het
D930048N14Rik	C	A	11: 51,544,576 (GRCm39)		probably benign	Het
Ehf	T	C	2: 103,113,928 (GRCm39)	N23S	probably damaging	Het
Eif2ak3	T	A	6: 70,860,699 (GRCm39)	I425N	probably damaging	Het
Fbxo4	C	T	15: 4,005,305 (GRCm39)	V192M	probably damaging	Het
Gm21190	T	C	5: 15,730,849 (GRCm39)	Q169R	possibly damaging	Het
Gngt1	A	G	6: 3,994,246 (GRCm39)	D8G	possibly damaging	Het
Ift140	T	C	17: 25,251,147 (GRCm39)	L31P	probably damaging	Het
Keg1	C	T	19: 12,686,994 (GRCm39)	Q8*	probably null	Het
Lama3	T	A	18: 12,682,283 (GRCm39)	M1083K	possibly damaging	Het
Lrp1b	A	T	2: 40,527,876 (GRCm39)	Y68*	probably null	Het
Lyz3	A	G	10: 117,071,534 (GRCm39)	V115A	probably benign	Het
Muc5ac	A	G	7: 141,357,065 (GRCm39)	Y1113C	probably damaging	Het
Myb	C	T	10: 21,028,844 (GRCm39)	V85M	probably damaging	Het
Npas2	T	G	1: 39,401,029 (GRCm39)	S798A	unknown	Het
Or13a21	G	T	7: 139,999,517 (GRCm39)	H56Q	probably damaging	Het
Orc2	A	G	1: 58,532,818 (GRCm39)		probably null	Het
Parpbp	T	C	10: 87,946,175 (GRCm39)	T415A	probably benign	Het
Pcdha3	T	C	18: 37,080,875 (GRCm39)	V539A	probably benign	Het
Piwil4	T	C	9: 14,621,230 (GRCm39)	E601G	probably damaging	Het
Pramel51	A	T	12: 88,142,763 (GRCm39)	L285Q	possibly damaging	Het
Ptpn3	T	A	4: 57,205,905 (GRCm39)	I696F	probably damaging	Het
Sec63	C	T	10: 42,692,379 (GRCm39)	Q617*	probably null	Het
Sgip1	C	A	4: 102,762,765 (GRCm39)		probably benign	Het
Sirpd	T	C	3: 15,385,558 (GRCm39)	T115A	probably damaging	Het
Tktl2	T	C	8: 66,965,381 (GRCm39)	V313A	probably benign	Het
Tmem63b	C	A	17: 45,978,634 (GRCm39)	R325L	probably benign	Het
Ttn	C	T	2: 76,539,700 (GRCm39)	G34429R	probably 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
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
R9670:Mctp1	UTSW	13	76,532,840 (GRCm39)	missense	probably benign	0.01
Z1189:Mctp1	UTSW	13	76,971,161 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGCTCCCACTTGGCTTCTAGAG -3'
(R):5'- AGGCTTTCACACTCCACTAGC -3'

Sequencing Primer
(F):5'- AGAGCAGCCCTTTTCCCAG -3'
(R):5'- CGGAGGAGTTTTTCTTTTATCTTCCC -3'

Posted On

2018-07-23