Mutagenetix > Incidental Mutations

Incidental Mutation 'R0591:Cactin'

55987

Institutional Source

Beutler Lab

Gene Symbol

Cactin

Ensembl Gene

ENSMUSG00000034889

Gene Name

cactin, spliceosome C complex subunit

Synonyms

MMRRC Submission

038781-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.425) question?

Stock #

R0591 (G1)

Quality Score

185

Status

Validated

Chromosome

Chromosomal Location

81321103-81326242 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 81324003 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 89 (E89*)

Ref Sequence

ENSEMBL: ENSMUSP00000151248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000050867] [ENSMUST00000105325] [ENSMUST00000161854] [ENSMUST00000163075] [ENSMUST00000218120] [ENSMUST00000220312]

Predicted Effect

probably benign
Transcript: ENSMUST00000045469

SMART Domains

Protein: ENSMUSP00000038225
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	69	78	N/A	INTRINSIC
PIPKc	103	444	2.72e-164	SMART
low complexity region	518	534	N/A	INTRINSIC
low complexity region	575	591	N/A	INTRINSIC
low complexity region	601	628	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000050867
AA Change: E403*

SMART Domains

Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889
AA Change: E403*

Domain	Start	End	E-Value	Type
low complexity region	9	101	N/A	INTRINSIC
low complexity region	128	149	N/A	INTRINSIC
coiled coil region	157	184	N/A	INTRINSIC
low complexity region	186	206	N/A	INTRINSIC
low complexity region	246	253	N/A	INTRINSIC
Pfam:Cactin_mid	292	479	2.1e-68	PFAM
low complexity region	507	524	N/A	INTRINSIC
low complexity region	531	558	N/A	INTRINSIC
low complexity region	596	607	N/A	INTRINSIC
CactinC_cactus	648	772	2.13e-87	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105325

SMART Domains

Protein: ENSMUSP00000100962
Gene: ENSMUSG00000034881

Domain	Start	End	E-Value	Type
Pfam:7tm_1	41	305	2.1e-24	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000161854

SMART Domains

Protein: ENSMUSP00000124004
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163075

SMART Domains

Protein: ENSMUSP00000124155
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	8	32	N/A	INTRINSIC
low complexity region	69	78	N/A	INTRINSIC
PIPKc	103	444	2.72e-164	SMART
low complexity region	518	534	N/A	INTRINSIC
low complexity region	575	591	N/A	INTRINSIC
low complexity region	601	628	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000218120
AA Change: E89*

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219285

Predicted Effect

probably benign
Transcript: ENSMUST00000220312

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.7%
3x: 99.2%
10x: 97.7%
20x: 95.3%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	G	T	3: 138,068,943	E1298*	probably null	Het
Adam19	T	C	11: 46,121,411		probably benign	Het
Agt	A	T	8: 124,556,939	S480R	possibly damaging	Het
Anapc1	G	T	2: 128,619,332	D1769E	probably benign	Het
Aox4	T	C	1: 58,239,102		probably benign	Het
Apol9b	G	A	15: 77,735,630	V209I	possibly damaging	Het
Appl2	A	T	10: 83,624,645	I116K	possibly damaging	Het
B230118H07Rik	A	T	2: 101,576,117	D155E	probably benign	Het
BC051665	A	G	13: 60,784,608		probably benign	Het
Carf	G	T	1: 60,125,914		probably benign	Het
Ccdc167	A	G	17: 29,705,261		probably benign	Het
Ceacam3	G	A	7: 17,151,883		probably null	Het
Clca4b	T	A	3: 144,915,592	K574*	probably null	Het
Crabp1	T	A	9: 54,765,603	I64N	probably damaging	Het
Dgkd	T	A	1: 87,915,104	I118N	probably damaging	Het
Dglucy	T	C	12: 100,859,518		probably benign	Het
Dock10	C	T	1: 80,541,219		probably benign	Het
Ednrb	A	T	14: 103,823,274		probably null	Het
Ercc6	T	C	14: 32,558,016		probably benign	Het
Gm5538	C	A	3: 59,752,129	Y334*	probably null	Het
Golga3	A	C	5: 110,188,743	Q416P	probably damaging	Het
Gpr12	A	G	5: 146,583,635	V159A	probably benign	Het
Heatr5a	A	T	12: 51,910,101		probably benign	Het
Helz2	A	G	2: 181,232,116	I2195T	probably damaging	Het
Hikeshi	A	T	7: 89,920,087	N76K	possibly damaging	Het
Hsd11b1	T	C	1: 193,229,676		probably benign	Het
Inhba	A	T	13: 16,026,820	K322N	probably damaging	Het
Katnal1	A	T	5: 148,892,516	F291L	probably damaging	Het
Kcnj9	T	C	1: 172,323,098	E316G	probably damaging	Het
Lrsam1	A	G	2: 32,933,923		probably benign	Het
Mcf2l	T	G	8: 13,018,751	S1075A	probably benign	Het
Mios	T	C	6: 8,215,470	V222A	possibly damaging	Het
Mycbp2	A	T	14: 103,196,391		probably benign	Het
Nars	A	T	18: 64,500,567	I544N	probably damaging	Het
Olfr993	A	G	2: 85,414,690	L63P	possibly damaging	Het
Pbrm1	A	G	14: 31,046,430		probably benign	Het
Plcb4	A	G	2: 135,955,012		probably benign	Het
Pnliprp1	A	G	19: 58,734,706	D213G	probably damaging	Het
Psap	A	G	10: 60,300,855	N538D	possibly damaging	Het
Ptdss1	A	G	13: 66,972,650		probably benign	Het
Rap1b	G	A	10: 117,818,617		probably benign	Het
Rhcg	T	A	7: 79,594,772		probably benign	Het
Ryr1	G	A	7: 29,104,795	T550I	possibly damaging	Het
Samm50	G	A	15: 84,211,168	G452R	probably benign	Het
Scin	A	G	12: 40,080,930		probably null	Het
Sesn3	T	C	9: 14,308,558	L81S	probably damaging	Het
Skint6	A	C	4: 112,858,169		probably benign	Het
Slc30a4	A	T	2: 122,685,240	L411H	probably damaging	Het
Slc44a5	C	T	3: 154,234,145		probably benign	Het
Slc4a3	C	T	1: 75,549,021	A255V	probably damaging	Het
Slc9b1	A	G	3: 135,382,832	N318S	possibly damaging	Het
Tcp11l2	A	T	10: 84,604,594	H287L	probably benign	Het
Tex10	C	T	4: 48,456,800	R637Q	probably benign	Het
Tnks2	T	A	19: 36,872,562	Y605N	probably damaging	Het
Topbp1	T	A	9: 103,349,838	N1490K	probably benign	Het
Ube4b	T	G	4: 149,357,577		probably benign	Het
Usp4	G	A	9: 108,348,029		probably benign	Het
Vezf1	A	T	11: 88,068,435		probably benign	Het
Vmn1r184	A	T	7: 26,267,075	D82V	probably damaging	Het

Other mutations in Cactin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Cactin	APN	10	81324350	missense	possibly damaging	0.93
IGL01631:Cactin	APN	10	81323224	missense	probably benign	0.03
IGL01816:Cactin	APN	10	81325865	missense	possibly damaging	0.81
IGL02484:Cactin	APN	10	81322974	missense	probably benign	0.09
IGL03001:Cactin	APN	10	81325734	missense	probably damaging	1.00
R0241:Cactin	UTSW	10	81322652	missense	probably benign
R0241:Cactin	UTSW	10	81322652	missense	probably benign
R0326:Cactin	UTSW	10	81322662	missense	probably benign	0.01
R0570:Cactin	UTSW	10	81323233	missense	probably damaging	0.98
R1429:Cactin	UTSW	10	81323678	missense	probably damaging	1.00
R1444:Cactin	UTSW	10	81322436	unclassified	probably null
R1470:Cactin	UTSW	10	81323151	nonsense	probably null
R1470:Cactin	UTSW	10	81323151	nonsense	probably null
R1630:Cactin	UTSW	10	81323725	missense	probably benign	0.26
R2022:Cactin	UTSW	10	81322893	missense	possibly damaging	0.94
R3401:Cactin	UTSW	10	81325875	missense	probably benign	0.07
R3402:Cactin	UTSW	10	81325875	missense	probably benign	0.07
R3403:Cactin	UTSW	10	81325875	missense	probably benign	0.07
R5284:Cactin	UTSW	10	81323762	missense	probably damaging	1.00
R6126:Cactin	UTSW	10	81324309	missense	possibly damaging	0.61
R6127:Cactin	UTSW	10	81324309	missense	possibly damaging	0.61
R6907:Cactin	UTSW	10	81323444	critical splice donor site	probably null
R7339:Cactin	UTSW	10	81321318	unclassified	probably benign
R7340:Cactin	UTSW	10	81321318	unclassified	probably benign
R7558:Cactin	UTSW	10	81321318	unclassified	probably benign
R7625:Cactin	UTSW	10	81321318	unclassified	probably benign
R7627:Cactin	UTSW	10	81321318	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TACATCAGCGCAGAGGATGACGAC -3'
(R):5'- GCTGGGCAGCACACCAATTTAGAC -3'

Sequencing Primer
(F):5'- gctctgccctgccctac -3'
(R):5'- GCACACCAATTTAGACTCTGCTTG -3'

Posted On

2013-07-11