Mutagenetix > Incidental Mutation

Incidental Mutation 'R2129:Mctp1'

227872

Institutional Source

Beutler Lab

Gene Symbol

Mctp1

Ensembl Gene

ENSMUSG00000021596

Gene Name

multiple C2 domains, transmembrane 1

Synonyms

2810465F10Rik

MMRRC Submission

040132-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2129 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76532259-77179929 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76972941 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 648 (D648G)

Ref Sequence

ENSEMBL: ENSMUSP00000118958 (fasta)

Gene Model

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

AlphaFold

E9PV86

Predicted Effect

probably damaging
Transcript: ENSMUST00000109583
AA Change: D391G

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

SMART Domains

Protein: ENSMUSP00000105212
Gene: ENSMUSG00000021596
AA Change: D391G

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: D648G

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

SMART Domains

Protein: ENSMUSP00000118958
Gene: ENSMUSG00000021596
AA Change: D648G

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

0.9555

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

99% (91/92)

Allele List at MGI

Other mutations in this stock

Total: 91 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700113H08Rik	A	G	10: 87,066,066 (GRCm39)	E249G	possibly damaging	Het
2610028H24Rik	A	G	10: 76,293,349 (GRCm39)	M136V	possibly damaging	Het
4930523C07Rik	A	T	1: 159,902,945 (GRCm39)	K72*	probably null	Het
Abhd14a	A	T	9: 106,318,064 (GRCm39)	L125Q	probably null	Het
Abhd17b	T	A	19: 21,658,413 (GRCm39)		probably null	Het
Abo	G	A	2: 26,736,586 (GRCm39)	T61I	probably benign	Het
Adamts15	T	C	9: 30,815,799 (GRCm39)	T686A	probably benign	Het
Adgrv1	A	T	13: 81,705,199 (GRCm39)	F1537Y	probably damaging	Het
Anxa2	A	T	9: 69,383,410 (GRCm39)	Y75F	possibly damaging	Het
Aqp3	T	A	4: 41,098,061 (GRCm39)	I17F	probably benign	Het
Aspm	T	C	1: 139,385,373 (GRCm39)	V339A	probably benign	Het
Bri3bp	T	A	5: 125,528,735 (GRCm39)	L48*	probably null	Het
Car7	T	A	8: 105,275,605 (GRCm39)	C185S	possibly damaging	Het
Casp8ap2	T	C	4: 32,640,142 (GRCm39)	Y399H	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Chst10	A	G	1: 38,904,776 (GRCm39)	Y203H	probably benign	Het
Clca3a1	T	C	3: 144,722,526 (GRCm39)	D282G	probably damaging	Het
Coq3	T	G	4: 21,900,342 (GRCm39)	S190A	probably benign	Het
Crocc	G	A	4: 140,744,407 (GRCm39)	R1830C	probably damaging	Het
Cygb	A	G	11: 116,540,668 (GRCm39)	L106P	probably damaging	Het
Dab2	G	T	15: 6,365,864 (GRCm39)	E87*	probably null	Het
Dcst1	T	A	3: 89,264,852 (GRCm39)	I299F	probably damaging	Het
Dennd4a	T	G	9: 64,813,256 (GRCm39)		probably null	Het
Depdc7	A	G	2: 104,558,518 (GRCm39)	S168P	probably benign	Het
Dicer1	G	A	12: 104,688,290 (GRCm39)	T429I	probably damaging	Het
Dnah5	A	G	15: 28,408,467 (GRCm39)	Q3484R	probably benign	Het
Dock2	T	C	11: 34,618,242 (GRCm39)	M125V	probably damaging	Het
Dync2h1	A	G	9: 7,175,289 (GRCm39)	S107P	possibly damaging	Het
Emb	T	C	13: 117,404,082 (GRCm39)	V278A	probably damaging	Het
Firrm	T	C	1: 163,794,026 (GRCm39)	Y518C	probably damaging	Het
Foxk1	C	A	5: 142,420,943 (GRCm39)	S189*	probably null	Het
Galm	T	C	17: 80,490,647 (GRCm39)	I268T	probably benign	Het
Gm5581	A	C	6: 131,145,247 (GRCm39)		noncoding transcript	Het
Gpr6	G	A	10: 40,947,168 (GRCm39)	S138L	possibly damaging	Het
Hesx1	C	A	14: 26,722,802 (GRCm39)	H42Q	possibly damaging	Het
Hsp90b1	T	C	10: 86,531,570 (GRCm39)	D421G	probably damaging	Het
Kctd19	T	C	8: 106,111,804 (GRCm39)	T31A	probably damaging	Het
Kif1b	G	A	4: 149,272,097 (GRCm39)	S1568L	possibly damaging	Het
Krtap19-3	T	C	16: 88,674,863 (GRCm39)		probably benign	Het
Lin28a	T	A	4: 133,745,465 (GRCm39)	I43F	probably benign	Het
Lrriq1	G	A	10: 103,050,718 (GRCm39)	T678I	probably benign	Het
Macf1	A	G	4: 123,262,608 (GRCm39)		probably benign	Het
Madcam1	A	G	10: 79,501,406 (GRCm39)	E157G	possibly damaging	Het
Megf8	T	C	7: 25,030,140 (GRCm39)	L425P	probably damaging	Het
Mospd4	A	G	18: 46,598,731 (GRCm39)		noncoding transcript	Het
Mybpc1	T	G	10: 88,387,314 (GRCm39)	T466P	probably damaging	Het
Myo10	T	C	15: 25,781,885 (GRCm39)	Y1127H	probably benign	Het
Myo18b	A	T	5: 112,978,944 (GRCm39)	L1223Q	probably damaging	Het
Myo9b	T	C	8: 71,786,343 (GRCm39)	Y670H	probably damaging	Het
Ndufaf4	G	T	4: 24,898,608 (GRCm39)	D55Y	probably damaging	Het
Neurod2	G	T	11: 98,218,414 (GRCm39)	A250E	possibly damaging	Het
Nherf1	A	T	11: 115,067,270 (GRCm39)	I174F	probably damaging	Het
Nipsnap1	C	A	11: 4,838,932 (GRCm39)	N119K	probably benign	Het
Npffr2	A	T	5: 89,715,924 (GRCm39)	I84F	probably damaging	Het
Or10ab4	T	A	7: 107,655,111 (GRCm39)	N307K	probably benign	Het
Or11h23	A	G	14: 50,948,093 (GRCm39)	Y102C	probably damaging	Het
Or2t48	T	C	11: 58,420,437 (GRCm39)	D125G	probably damaging	Het
Pald1	A	G	10: 61,184,085 (GRCm39)		probably null	Het
Palld	T	C	8: 62,330,395 (GRCm39)	S161G	probably benign	Het
Paqr9	T	A	9: 95,443,122 (GRCm39)	F371I	probably benign	Het
Pear1	A	T	3: 87,665,666 (GRCm39)	C120*	probably null	Het
Pla2g4e	A	T	2: 120,013,292 (GRCm39)	F343I	probably damaging	Het
Plxdc2	A	T	2: 16,516,902 (GRCm39)	Y61F	probably benign	Het
Polh	G	A	17: 46,499,014 (GRCm39)	Q234*	probably null	Het
Prkce	T	A	17: 86,803,463 (GRCm39)	M454K	possibly damaging	Het
Proser1	C	A	3: 53,385,366 (GRCm39)	T416K	probably benign	Het
Prr14l	G	T	5: 32,989,172 (GRCm39)		probably benign	Het
Rabgap1l	A	T	1: 160,566,527 (GRCm39)	D90E	probably benign	Het
Rp1l1	T	A	14: 64,266,415 (GRCm39)	V667D	possibly damaging	Het
Rpp40	A	T	13: 36,082,604 (GRCm39)	C256*	probably null	Het
Rps6ka5	A	G	12: 100,644,797 (GRCm39)	L51P	probably damaging	Het
Rtp2	C	T	16: 23,746,457 (GRCm39)	C78Y	probably damaging	Het
Ryr3	A	G	2: 112,508,715 (GRCm39)		probably benign	Het
Slc10a6	A	G	5: 103,756,922 (GRCm39)	Y281H	probably benign	Het
Slc6a21	T	G	7: 44,932,197 (GRCm39)		probably null	Het
Smo	A	G	6: 29,757,313 (GRCm39)	Y476C	probably damaging	Het
Tacr3	A	T	3: 134,560,621 (GRCm39)	T187S	probably damaging	Het
Tas1r3	G	A	4: 155,944,927 (GRCm39)	R765C	probably damaging	Het
Tasp1	T	C	2: 139,890,164 (GRCm39)	K71E	possibly damaging	Het
Tg	A	G	15: 66,566,743 (GRCm39)	I1264V	probably benign	Het
Tmem41a	T	C	16: 21,764,911 (GRCm39)		probably null	Het
Tmem63a	A	G	1: 180,793,105 (GRCm39)	N459D	probably benign	Het
Ube2k	A	G	5: 65,752,269 (GRCm39)	T151A	probably damaging	Het
Ubr1	T	C	2: 120,773,034 (GRCm39)	E402G	probably benign	Het
Ulk4	T	A	9: 120,981,248 (GRCm39)	I897F	probably benign	Het
Usp30	A	G	5: 114,249,224 (GRCm39)	E176G	probably damaging	Het
Utp20	A	G	10: 88,649,917 (GRCm39)	F431S	probably damaging	Het
Vmn1r206	T	C	13: 22,804,782 (GRCm39)	S142G	probably benign	Het
Wdr17	C	T	8: 55,085,416 (GRCm39)	V1236M	probably damaging	Het
Zbtb32	T	C	7: 30,290,918 (GRCm39)	K126E	possibly damaging	Het
Zeb1	A	T	18: 5,767,681 (GRCm39)	S731C	possibly 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
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
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'- CTTCGCCTGGGACATATCTG -3'
(R):5'- CATGGCCGTGCATTGAGTATG -3'

Sequencing Primer
(F):5'- CCTGGGACATATCTGTTTGTATGC -3'
(R):5'- CAGACATAGAGCTGAGGT -3'

Posted On

2014-09-17