Mutagenetix > Incidental Mutation

Incidental Mutation 'R7558:Cactin'

584894

Institutional Source

Beutler Lab

Gene Symbol

Cactin

Ensembl Gene

ENSMUSG00000034889

Gene Name

cactin, spliceosome C complex subunit

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.623) question?

Stock #

R7558 (G1)

Quality Score

217.468

Status

Validated

Chromosome

Chromosomal Location

81321103-81326242 bp(+) (GRCm38)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG to CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG at 81321318 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000151248 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045469] [ENSMUST00000050867] [ENSMUST00000105327] [ENSMUST00000161854] [ENSMUST00000161869] [ENSMUST00000163075] [ENSMUST00000218120]

AlphaFold

Q9CS00

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 benign
Transcript: ENSMUST00000050867

SMART Domains

Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889

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: ENSMUST00000105327

SMART Domains

Protein: ENSMUSP00000100964
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 benign
Transcript: ENSMUST00000161586

SMART Domains

Protein: ENSMUSP00000124612
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	28	44	N/A	INTRINSIC
low complexity region	54	81	N/A	INTRINSIC

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: ENSMUST00000161869

SMART Domains

Protein: ENSMUSP00000124235
Gene: ENSMUSG00000034902

Domain	Start	End	E-Value	Type
low complexity region	7	36	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 benign
Transcript: ENSMUST00000218120

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700093K21Rik	G	T	11: 23,516,285		probably null	Het
2410089E03Rik	C	T	15: 8,225,367	R13C	unknown	Het
Adgrg6	A	T	10: 14,431,607	M817K	probably damaging	Het
Adh6b	T	A	3: 138,352,536	D53E	probably benign	Het
Ap3d1	A	G	10: 80,722,921	V283A	possibly damaging	Het
Arhgap21	A	G	2: 20,855,610	Y1329H	probably damaging	Het
B3gnt9	T	C	8: 105,254,672	Y28C	probably benign	Het
Chrd	T	A	16: 20,738,554	V641E	probably damaging	Het
Clvs2	A	T	10: 33,543,464	I198N	probably damaging	Het
Dbndd2	T	C	2: 164,490,216	S120P	probably benign	Het
Dsg2	G	A	18: 20,594,234	V613I	probably benign	Het
Dsp	A	G	13: 38,168,766	M207V	probably benign	Het
Fignl2	T	C	15: 101,054,383	E6G	probably damaging	Het
Fmod	A	G	1: 134,040,993	Y257C	probably benign	Het
Foxk2	T	C	11: 121,288,058	S239P	probably benign	Het
Fstl5	C	T	3: 76,429,785	T217I	possibly damaging	Het
Gdi1	G	A	X: 74,306,855	R55H	probably benign	Het
Gm45140	G	A	6: 87,821,529	S34F		Het
H2-Q6	A	G	17: 35,425,619	E128G	probably benign	Het
Hmmr	A	G	11: 40,733,329	F11L	probably damaging	Het
Igfbpl1	G	T	4: 45,813,497	N239K	probably damaging	Het
Itpr2	G	T	6: 146,390,865	D443E	probably damaging	Het
Kcnt2	A	T	1: 140,523,190	I736F	probably damaging	Het
Kctd11	A	T	11: 69,879,590	H207Q	probably benign	Het
Kif16b	A	T	2: 142,758,826	D462E	probably damaging	Het
Kif5a	G	A	10: 127,248,079	T81I	probably damaging	Het
Lemd2	C	A	17: 27,204,163	A86S	probably benign	Het
Lrp1b	T	C	2: 41,341,936	D1174G		Het
Lrrc8b	G	T	5: 105,481,711	W641L	probably damaging	Het
Malt1	T	C	18: 65,462,834	C438R	probably damaging	Het
March8	T	C	6: 116,403,565	F126L	possibly damaging	Het
Nalcn	C	A	14: 123,486,385		probably null	Het
Nyap2	A	T	1: 81,269,373	T679S	probably benign	Het
Olfr1469	T	A	19: 13,410,991	C141S	probably damaging	Het
Olfr503	C	G	7: 108,544,721	Y65*	probably null	Het
Otog	C	A	7: 46,303,160	P419Q	probably damaging	Het
Pabpc4	T	G	4: 123,294,620	S341A	possibly damaging	Het
Pikfyve	T	A	1: 65,272,623	H2006Q	probably benign	Het
Ppp2r5e	A	T	12: 75,464,992	V319D	probably damaging	Het
Ptk2b	T	C	14: 66,154,179	S969G	possibly damaging	Het
Rasal2	G	A	1: 157,175,836	R436C	probably damaging	Het
Rpap1	A	T	2: 119,771,254	F742I	probably benign	Het
Ryr2	G	A	13: 11,799,825	T687M	probably damaging	Het
Sec16a	A	T	2: 26,439,734	F7L		Het
Slc14a2	A	G	18: 78,192,119	I143T	probably benign	Het
Slc22a26	T	A	19: 7,785,286	M430L	possibly damaging	Het
Smarcc1	C	A	9: 110,147,116	T157K	probably damaging	Het
Tmem87a	A	G	2: 120,374,510	I375T	probably benign	Het
Tmprss15	T	C	16: 79,003,414	I609V	possibly damaging	Het
Tnk2	C	A	16: 32,680,085	Q739K	probably benign	Het
Trio	T	A	15: 27,831,394	I1340F	possibly damaging	Het
Trpm6	T	C	19: 18,778,665	F91L	probably damaging	Het
Vax1	T	C	19: 59,169,984	T16A	unknown	Het
Vps13d	T	G	4: 145,154,580	H1481P		Het
Zbtb7a	A	G	10: 81,148,435	*570W	probably null	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
R0591:Cactin	UTSW	10	81324003	nonsense	probably null
R1429:Cactin	UTSW	10	81323678	missense	probably damaging	1.00
R1444:Cactin	UTSW	10	81322436	splice site	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
R7625:Cactin	UTSW	10	81321318	unclassified	probably benign
R7627:Cactin	UTSW	10	81321318	unclassified	probably benign
R7904:Cactin	UTSW	10	81325865	missense	possibly damaging	0.81
R8825:Cactin	UTSW	10	81325658	missense	probably damaging	0.99
R8885:Cactin	UTSW	10	81321248	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTGGACAGTCCTTAGAGCGC -3'
(R):5'- AGTCATTCGGTCCCCTATGC -3'

Sequencing Primer
(F):5'- CGCCGCGCCAAAGGAAAG -3'
(R):5'- ATCTCGGATACTGCCCCG -3'

Posted On

2019-10-17