Mutagenetix > Incidental Mutation

Incidental Mutation 'R1444:Cactin'

158720

Institutional Source

Beutler Lab

Gene Symbol

Cactin

Ensembl Gene

ENSMUSG00000034889

Gene Name

cactin, spliceosome C complex subunit

Synonyms

2510012J08Rik

MMRRC Submission

039499-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.545) question?

Stock #

R1444 (G1)

Quality Score

149

Status

Validated

Chromosome

Chromosomal Location

81156937-81162076 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

A to T at 81158270 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] [ENSMUST00000218120] [ENSMUST00000163075]

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 null
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

noncoding transcript
Transcript: ENSMUST00000159636

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 null
Transcript: ENSMUST00000218120

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

noncoding transcript
Transcript: ENSMUST00000219285

Meta Mutation Damage Score

0.9488

Coding Region Coverage

1x: 98.8%
3x: 97.7%
10x: 94.4%
20x: 86.1%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,205,230 (GRCm39)	D347V	probably damaging	Het
A630010A05Rik	T	A	16: 14,427,558 (GRCm39)	F82I	possibly damaging	Het
Acad9	T	A	3: 36,132,657 (GRCm39)	F297L	possibly damaging	Het
Adgrl3	A	T	5: 81,660,200 (GRCm39)	Y323F	probably damaging	Het
Brca2	T	A	5: 150,465,915 (GRCm39)	M1893K	probably benign	Het
Cadm4	A	G	7: 24,203,046 (GRCm39)	*389W	probably null	Het
Calr4	A	G	4: 109,103,438 (GRCm39)	T183A	possibly damaging	Het
Card10	A	T	15: 78,672,041 (GRCm39)		probably benign	Het
Cdh6	C	A	15: 13,091,924 (GRCm39)	G14C	probably benign	Het
Cds1	A	G	5: 101,946,245 (GRCm39)	Y148C	probably damaging	Het
Chd1l	C	T	3: 97,490,047 (GRCm39)	E503K	probably benign	Het
Cr1l	A	T	1: 194,813,510 (GRCm39)	L35Q	probably damaging	Het
Daam2	T	C	17: 49,787,779 (GRCm39)	R445G	possibly damaging	Het
Ddn	G	A	15: 98,704,485 (GRCm39)	T269M	probably damaging	Het
Epb41	G	A	4: 131,733,382 (GRCm39)	S176L	probably benign	Het
Ephx2	T	C	14: 66,344,769 (GRCm39)	D167G	probably damaging	Het
Erbb4	G	A	1: 68,293,759 (GRCm39)	R711C	probably damaging	Het
Flg2	T	A	3: 93,109,620 (GRCm39)	H549Q	unknown	Het
Gje1	A	G	10: 14,592,380 (GRCm39)		probably null	Het
Heatr5b	G	A	17: 79,060,622 (GRCm39)	H2018Y	probably benign	Het
Heatr5b	A	T	17: 79,062,856 (GRCm39)		probably benign	Het
Hectd3	G	T	4: 116,853,593 (GRCm39)	R189L	probably benign	Het
Hsd3b6	T	C	3: 98,715,237 (GRCm39)	T52A	probably benign	Het
Il10rb	T	G	16: 91,218,675 (GRCm39)		probably null	Het
Kcnc2	T	C	10: 112,291,506 (GRCm39)		probably benign	Het
Lpl	T	A	8: 69,345,399 (GRCm39)	D134E	probably damaging	Het
Lrit1	T	C	14: 36,783,928 (GRCm39)	F419L	probably benign	Het
Mmp8	T	C	9: 7,567,264 (GRCm39)	C422R	probably benign	Het
Myo18b	A	G	5: 112,923,117 (GRCm39)		probably null	Het
Ncor1	T	A	11: 62,294,632 (GRCm39)	I280F	probably damaging	Het
Obox2	A	C	7: 15,130,957 (GRCm39)	Q63P	possibly damaging	Het
Or2ad1	C	T	13: 21,326,337 (GRCm39)	V297I	probably benign	Het
Or4d2b	T	A	11: 87,780,585 (GRCm39)	I46L	probably benign	Het
Phldb2	T	A	16: 45,577,616 (GRCm39)		probably benign	Het
Pkd1l1	A	G	11: 8,804,386 (GRCm39)	F1735S	probably damaging	Het
Pramel11	G	T	4: 143,623,461 (GRCm39)	L238I	probably benign	Het
Prss30	T	C	17: 24,192,712 (GRCm39)	Y156C	probably damaging	Het
Rnf213	T	C	11: 119,333,226 (GRCm39)	S2812P	probably damaging	Het
Rttn	A	G	18: 89,060,991 (GRCm39)	D1053G	probably benign	Het
Slc6a2	A	G	8: 93,697,882 (GRCm39)	N120S	probably damaging	Het
Snrnp200	T	C	2: 127,070,158 (GRCm39)		probably benign	Het
Spindoc	G	T	19: 7,360,086 (GRCm39)	D27E	probably benign	Het
Svep1	T	C	4: 58,115,754 (GRCm39)	T980A	possibly damaging	Het
Tgfbr1	A	G	4: 47,393,259 (GRCm39)	E46G	probably benign	Het
Tmem183a	T	C	1: 134,289,284 (GRCm39)	I49V	probably benign	Het
Tmem212	C	T	3: 27,939,244 (GRCm39)	V81I	possibly damaging	Het
Toporsl	T	A	4: 52,610,254 (GRCm39)	I49N	probably benign	Het
Trim67	A	G	8: 125,549,932 (GRCm39)	T521A	probably benign	Het
Vsnl1	T	C	12: 11,382,219 (GRCm39)		probably null	Het
Wdr87-ps	T	C	7: 29,229,380 (GRCm39)		noncoding transcript	Het
Xrn2	C	T	2: 146,903,408 (GRCm39)	R803W	probably damaging	Het
Zfp131	A	T	13: 120,251,784 (GRCm39)	C9S	probably damaging	Het
Zfp750	C	T	11: 121,402,873 (GRCm39)	S625N	probably damaging	Het
Zfp871	G	T	17: 32,993,900 (GRCm39)	T406N	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
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
R7625: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'- TAAGAACCAGCCTGGCTGTAGAGG -3'
(R):5'- AGTCCAAGCTAGACGCTGATGACC -3'

Sequencing Primer
(F):5'- cagaaagcagagacaggagg -3'
(R):5'- AGCATGAGGACTGGTTCTGT -3'

Posted On

2014-03-14