Mutagenetix > Incidental Mutation

Incidental Mutation 'R7625:Cactin'

589404

Institutional Source

Beutler Lab

Gene Symbol

Cactin

Ensembl Gene

ENSMUSG00000034889

Gene Name

cactin, spliceosome C complex subunit

Synonyms

2510012J08Rik

MMRRC Submission

045719-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R7625 (G1)

Quality Score

217.468

Status

Not validated

Chromosome

Chromosomal Location

81156937-81162076 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG to CCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAGTCGGAG at 81157152 bp (GRCm39)

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% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	A	8: 111,773,587 (GRCm39)	V506E	probably damaging	Het
Acaa2	G	T	18: 74,937,213 (GRCm39)	V366F	possibly damaging	Het
Ago1	G	A	4: 126,337,022 (GRCm39)	R532C	probably benign	Het
Ank2	T	G	3: 126,846,449 (GRCm39)	D182A	probably damaging	Het
Anxa4	T	C	6: 86,714,801 (GRCm39)	D302G	probably damaging	Het
Apoa4	A	T	9: 46,154,410 (GRCm39)	E337V	probably damaging	Het
Atf1	A	G	15: 100,152,158 (GRCm39)		probably null	Het
Atp8b3	A	C	10: 80,355,980 (GRCm39)	V1244G	probably benign	Het
Camk2a	G	A	18: 61,085,412 (GRCm39)	V132M	probably damaging	Het
Cdc40	A	T	10: 40,724,048 (GRCm39)	Y247N	probably benign	Het
Chd8	G	A	14: 52,474,534 (GRCm39)	P166S	probably benign	Het
Chl1	T	A	6: 103,706,086 (GRCm39)	S1140R	probably damaging	Het
Clstn3	G	T	6: 124,414,377 (GRCm39)	S783*	probably null	Het
Col6a1	A	G	10: 76,549,760 (GRCm39)	S562P	unknown	Het
Cpb2	G	A	14: 75,509,989 (GRCm39)	V250M	possibly damaging	Het
Cyp2c38	T	A	19: 39,451,368 (GRCm39)	Q44L	possibly damaging	Het
Dgat1	T	C	15: 76,387,395 (GRCm39)	M325V	possibly damaging	Het
Dnah11	T	A	12: 118,160,377 (GRCm39)	M118L	probably benign	Het
Dpy19l3	T	A	7: 35,452,106 (GRCm39)	I13L	probably benign	Het
Enkd1	A	G	8: 106,431,265 (GRCm39)		probably null	Het
Fam241b	A	G	10: 61,970,479 (GRCm39)		probably benign	Het
Fhit	T	A	14: 9,870,177 (GRCm38)		probably null	Het
Gp6	T	C	7: 4,373,173 (GRCm39)	E250G	probably benign	Het
Hmgb1	T	C	5: 148,987,150 (GRCm39)	E84G	probably benign	Het
Hscb	T	A	5: 110,977,012 (GRCm39)	I227F	probably damaging	Het
Hspg2	T	A	4: 137,292,249 (GRCm39)	L4047Q	probably damaging	Het
Hsph1	A	G	5: 149,541,901 (GRCm39)	L775P	probably benign	Het
Hydin	A	T	8: 111,268,476 (GRCm39)	S2947C	probably benign	Het
Intu	T	C	3: 40,652,029 (GRCm39)	S829P	probably benign	Het
Kcnn3	C	A	3: 89,516,977 (GRCm39)	T462K	probably damaging	Het
Kndc1	G	A	7: 139,517,930 (GRCm39)	C1622Y	possibly damaging	Het
Lifr	T	C	15: 7,198,723 (GRCm39)	Y318H	probably damaging	Het
Mier2	A	G	10: 79,378,543 (GRCm39)	S332P	probably damaging	Het
Mindy4	T	C	6: 55,253,598 (GRCm39)	I489T	possibly damaging	Het
Mmp8	A	T	9: 7,566,218 (GRCm39)	Q358L	probably benign	Het
Ms4a4a	T	A	19: 11,367,728 (GRCm39)		probably null	Het
Nav1	G	C	1: 135,395,483 (GRCm39)	S962C	probably damaging	Het
Nfe2l1	G	A	11: 96,710,271 (GRCm39)	R653C	probably damaging	Het
Nherf4	A	T	9: 44,161,594 (GRCm39)	I95N	probably damaging	Het
Nod2	A	T	8: 89,391,906 (GRCm39)	I738F	probably damaging	Het
Nrf1	G	A	6: 30,116,230 (GRCm39)	V301I	probably benign	Het
Oog1	T	C	12: 87,655,082 (GRCm39)	F410S	probably benign	Het
Or52a33	A	G	7: 103,289,165 (GRCm39)	Y61H	probably damaging	Het
Or6k4	G	A	1: 173,964,733 (GRCm39)	C141Y	probably benign	Het
Pcdhga8	G	A	18: 37,859,954 (GRCm39)	V337I	probably benign	Het
Pelp1	G	T	11: 70,286,260 (GRCm39)	N572K	probably benign	Het
Pikfyve	T	C	1: 65,307,036 (GRCm39)	V1808A	possibly damaging	Het
Pirt	A	C	11: 66,816,769 (GRCm39)	S27R	probably damaging	Het
Pramel20	A	T	4: 143,298,821 (GRCm39)	I255L	probably benign	Het
Rgs17	A	T	10: 5,791,488 (GRCm39)	D96E	probably benign	Het
Senp1	A	G	15: 97,964,679 (GRCm39)	F206L	probably benign	Het
Sh3rf1	T	A	8: 61,825,756 (GRCm39)	S584T	probably benign	Het
Tex44	A	T	1: 86,354,459 (GRCm39)	K123*	probably null	Het
Tpst2	C	A	5: 112,455,887 (GRCm39)	T142K	probably damaging	Het
Ttc28	G	A	5: 111,433,085 (GRCm39)	G2040R	possibly damaging	Het
Uggt2	T	A	14: 119,263,905 (GRCm39)	I1042F	probably damaging	Het
Vmn2r91	T	C	17: 18,325,693 (GRCm39)	S104P	probably damaging	Het
Wdfy3	T	C	5: 102,003,252 (GRCm39)		probably null	Het
Zeb2	G	A	2: 44,892,584 (GRCm39)	A223V	probably damaging	Het
Zfp1002	T	C	2: 150,096,520 (GRCm39)	D303G	probably benign	Het
Zfp566	A	G	7: 29,777,930 (GRCm39)	S84P	probably benign	Het
Zfp994	T	A	17: 22,420,736 (GRCm39)	H71L	possibly damaging	Het

Other mutations in Cactin

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01124:Cactin	APN	10	81,160,184 (GRCm39)	missense	possibly damaging	0.93
IGL01631:Cactin	APN	10	81,159,058 (GRCm39)	missense	probably benign	0.03
IGL01816:Cactin	APN	10	81,161,699 (GRCm39)	missense	possibly damaging	0.81
IGL02484:Cactin	APN	10	81,158,808 (GRCm39)	missense	probably benign	0.09
IGL03001:Cactin	APN	10	81,161,568 (GRCm39)	missense	probably damaging	1.00
R0241:Cactin	UTSW	10	81,158,486 (GRCm39)	missense	probably benign
R0241:Cactin	UTSW	10	81,158,486 (GRCm39)	missense	probably benign
R0326:Cactin	UTSW	10	81,158,496 (GRCm39)	missense	probably benign	0.01
R0570:Cactin	UTSW	10	81,159,067 (GRCm39)	missense	probably damaging	0.98
R0591:Cactin	UTSW	10	81,159,837 (GRCm39)	nonsense	probably null
R1429:Cactin	UTSW	10	81,159,512 (GRCm39)	missense	probably damaging	1.00
R1444:Cactin	UTSW	10	81,158,270 (GRCm39)	splice site	probably null
R1470:Cactin	UTSW	10	81,158,985 (GRCm39)	nonsense	probably null
R1470:Cactin	UTSW	10	81,158,985 (GRCm39)	nonsense	probably null
R1630:Cactin	UTSW	10	81,159,559 (GRCm39)	missense	probably benign	0.26
R2022:Cactin	UTSW	10	81,158,727 (GRCm39)	missense	possibly damaging	0.94
R3401:Cactin	UTSW	10	81,161,709 (GRCm39)	missense	probably benign	0.07
R3402:Cactin	UTSW	10	81,161,709 (GRCm39)	missense	probably benign	0.07
R3403:Cactin	UTSW	10	81,161,709 (GRCm39)	missense	probably benign	0.07
R5284:Cactin	UTSW	10	81,159,596 (GRCm39)	missense	probably damaging	1.00
R6126:Cactin	UTSW	10	81,160,143 (GRCm39)	missense	possibly damaging	0.61
R6127:Cactin	UTSW	10	81,160,143 (GRCm39)	missense	possibly damaging	0.61
R6907:Cactin	UTSW	10	81,159,278 (GRCm39)	critical splice donor site	probably null
R7339:Cactin	UTSW	10	81,157,152 (GRCm39)	unclassified	probably benign
R7340:Cactin	UTSW	10	81,157,152 (GRCm39)	unclassified	probably benign
R7558:Cactin	UTSW	10	81,157,152 (GRCm39)	unclassified	probably benign
R7627:Cactin	UTSW	10	81,157,152 (GRCm39)	unclassified	probably benign
R7904:Cactin	UTSW	10	81,161,699 (GRCm39)	missense	possibly damaging	0.81
R8825:Cactin	UTSW	10	81,161,492 (GRCm39)	missense	probably damaging	0.99
R8885:Cactin	UTSW	10	81,157,082 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- CTTTGGACAGTCCTTAGAGCG -3'
(R):5'- GAGTCATTCGGTCCCCTATG -3'

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

Posted On

2019-10-24