Mutagenetix > Incidental Mutation

Incidental Mutation 'R5981:Mctp1'

481425

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

2810465F10Rik

MMRRC Submission

043250-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5981 (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 G at 76905229 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 444 (D444G)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000109583] [ENSMUST00000125209] [ENSMUST00000126960]

AlphaFold

E9PV86

Predicted Effect

probably damaging
Transcript: ENSMUST00000109583
AA Change: D187G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: D187G

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: D444G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: D444G

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

probably damaging
Transcript: ENSMUST00000126960
AA Change: D211G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000120673
Gene: ENSMUSG00000021596
AA Change: D211G

Domain	Start	End	E-Value	Type
C2	40	137	1.15e-15	SMART
C2	190	286	8.43e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137052

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.5%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	T	C	3: 59,659,299 (GRCm39)	Y251H	probably benign	Het
Ccr3	G	A	9: 123,828,820 (GRCm39)	G52S	probably damaging	Het
Cep192	T	C	18: 67,993,661 (GRCm39)	L1992P	probably damaging	Het
Cnot1	T	C	8: 96,515,293 (GRCm39)	K23E	probably damaging	Het
Col12a1	G	A	9: 79,585,788 (GRCm39)	R1224C	probably damaging	Het
Cox7c	A	T	13: 86,194,780 (GRCm39)	S5R	possibly damaging	Het
Eps8	A	G	6: 137,459,208 (GRCm39)	V765A	probably damaging	Het
Frg1	T	C	8: 41,863,307 (GRCm39)	D104G	possibly damaging	Het
Gm11032	T	C	11: 4,571,697 (GRCm39)	V34A	probably benign	Het
Hid1	G	A	11: 115,241,774 (GRCm39)	T612I	possibly damaging	Het
Hivep1	C	T	13: 42,313,664 (GRCm39)	T1968I	probably damaging	Het
Ms4a1	T	C	19: 11,229,180 (GRCm39)	E242G	probably benign	Het
Mx1	T	C	16: 97,255,405 (GRCm39)	D216G	probably damaging	Het
Panx3	A	G	9: 37,580,177 (GRCm39)	S59P	possibly damaging	Het
Pcdhgb1	A	G	18: 37,814,907 (GRCm39)	D466G	probably damaging	Het
Plg	T	C	17: 12,597,605 (GRCm39)		probably null	Het
Prpf4b	T	C	13: 35,070,693 (GRCm39)	S427P	probably benign	Het
Rbm44	T	C	1: 91,080,411 (GRCm39)	S166P	possibly damaging	Het
Recql	A	G	6: 142,318,604 (GRCm39)	L213P	probably damaging	Het
Rwdd1	A	G	10: 33,885,081 (GRCm39)	Y60H	probably damaging	Het
Sult1b1	A	C	5: 87,682,816 (GRCm39)	I43R	probably damaging	Het
Trak2	A	T	1: 58,947,849 (GRCm39)	V597E	probably benign	Het
Usp17lb	T	A	7: 104,490,394 (GRCm39)	I177F	probably damaging	Het
Zfp410	A	G	12: 84,378,414 (GRCm39)	E193G	probably benign	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
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
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'- CCCTCAACTTAACAGGAGCTG -3'
(R):5'- CAGCCAGCTTTGCTTTCAGG -3'

Sequencing Primer
(F):5'- CAACTTAACAGGAGCTGATAATTCC -3'
(R):5'- GCTTTCAGGCATGTTCCAAAG -3'

Posted On

2017-06-26