Mutagenetix > Incidental Mutation

Incidental Mutation 'R6127:Cactin'

487458

Institutional Source

Beutler Lab

Gene Symbol

Cactin

Ensembl Gene

ENSMUSG00000034889

Gene Name

cactin, spliceosome C complex subunit

Synonyms

2510012J08Rik

MMRRC Submission

044274-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.580) question?

Stock #

R6127 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

81156937-81162076 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 81160143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 412 (R412H)

Ref Sequence

ENSEMBL: ENSMUSP00000059533 (fasta)

Gene Model

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

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

possibly damaging
Transcript: ENSMUST00000050867
AA Change: R412H

PolyPhen 2 Score 0.609 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000059533
Gene: ENSMUSG00000034889
AA Change: R412H

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 benign
Transcript: ENSMUST00000218120
AA Change: R98H

PolyPhen 2 Score 0.048 (Sensitivity: 0.94; Specificity: 0.83)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219285

Predicted Effect

probably benign
Transcript: ENSMUST00000220312

Meta Mutation Damage Score

0.2409

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.2%

Validation Efficiency

98% (49/50)

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700003F12Rik	A	G	2: 154,391,509 (GRCm39)	E92G	probably damaging	Het
4931429L15Rik	T	A	9: 46,220,220 (GRCm39)	D104V	probably damaging	Het
Actl9	T	C	17: 33,652,354 (GRCm39)	V138A	probably benign	Het
Agl	T	A	3: 116,551,978 (GRCm39)	I1204F	probably damaging	Het
Akna	G	T	4: 63,286,356 (GRCm39)	T1381N	possibly damaging	Het
Atm	A	C	9: 53,435,809 (GRCm39)	L167W	probably damaging	Het
Atp2b2	C	T	6: 113,790,838 (GRCm39)	E189K	probably damaging	Het
Bend7	A	G	2: 4,768,088 (GRCm39)	D348G	probably damaging	Het
Carmil1	T	C	13: 24,220,335 (GRCm39)	T726A	probably benign	Het
Csmd3	T	A	15: 47,513,624 (GRCm39)	I2829F	probably damaging	Het
Ddx50	A	T	10: 62,457,342 (GRCm39)		probably null	Het
Epha5	T	G	5: 84,218,953 (GRCm39)	K937N	probably damaging	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fuca1	T	A	4: 135,662,122 (GRCm39)	I350N	probably damaging	Het
Hagh	G	T	17: 25,079,978 (GRCm39)	M152I	probably damaging	Het
Hexd	T	C	11: 121,107,825 (GRCm39)	V185A	possibly damaging	Het
Ireb2	A	G	9: 54,789,652 (GRCm39)	T109A	probably benign	Het
Kcnh2	A	G	5: 24,530,001 (GRCm39)	Y702H	probably damaging	Het
Leng1	G	A	7: 3,665,866 (GRCm39)	P157L	probably damaging	Het
Maea	C	T	5: 33,492,862 (GRCm39)		probably benign	Het
Mertk	G	T	2: 128,580,211 (GRCm39)	V222F	probably damaging	Het
Mroh2a	T	C	1: 88,162,334 (GRCm39)		probably null	Het
Muc13	G	A	16: 33,619,317 (GRCm39)	A22T	unknown	Het
Muc16	T	A	9: 18,569,174 (GRCm39)	H1115L	unknown	Het
Or2y1d	C	A	11: 49,321,633 (GRCm39)	T110K	probably damaging	Het
Or5ae2	T	A	7: 84,506,410 (GRCm39)	L278M	probably damaging	Het
Or5l13	T	A	2: 87,779,705 (GRCm39)	S291C	probably damaging	Het
Or6c69	A	G	10: 129,747,284 (GRCm39)	Y288H	probably damaging	Het
Pak5	G	A	2: 135,929,326 (GRCm39)	P619L	probably damaging	Het
Pcdh17	A	G	14: 84,770,500 (GRCm39)	K993E	probably damaging	Het
Pcdhga3	A	T	18: 37,807,757 (GRCm39)	Q70L	probably damaging	Het
Pcdhgb5	C	A	18: 37,865,932 (GRCm39)	R576S	probably damaging	Het
Pold1	T	C	7: 44,191,545 (GRCm39)	Y147C	probably damaging	Het
Prag1	T	C	8: 36,614,555 (GRCm39)	L1369P	unknown	Het
Psg29	T	A	7: 16,945,671 (GRCm39)	F414I	probably benign	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rp1	C	A	1: 4,419,534 (GRCm39)	S526I	possibly damaging	Het
Rsrc1	C	T	3: 66,901,982 (GRCm39)	P44L	unknown	Het
Setd7	G	A	3: 51,437,502 (GRCm39)	T251I	probably damaging	Het
Slc25a41	T	A	17: 57,341,914 (GRCm39)	Y145F	probably damaging	Het
Stag1	T	C	9: 100,833,750 (GRCm39)	V1121A	probably benign	Het
Svip	T	C	7: 51,653,201 (GRCm39)	T38A	probably benign	Het
Tacc2	A	T	7: 130,227,845 (GRCm39)	H1510L	possibly damaging	Het
Trav19	A	G	14: 54,082,999 (GRCm39)	T25A	probably benign	Het
Trip4	A	T	9: 65,773,752 (GRCm39)		probably null	Het
Tulp1	T	A	17: 28,575,124 (GRCm39)	H447L	probably benign	Het
Vmn1r200	A	T	13: 22,579,373 (GRCm39)	T59S	probably benign	Het
Vmn2r51	A	T	7: 9,839,558 (GRCm39)	L10H	probably damaging	Het
Wee2	T	C	6: 40,426,701 (GRCm39)	Y157H	probably damaging	Het
Xrn1	T	C	9: 95,851,542 (GRCm39)	S187P	probably damaging	Het
Zfp647	G	A	15: 76,796,285 (GRCm39)	P125L	probably 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
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'- AGACAGCTGCTATCCCTGTC -3'
(R):5'- CACTAAAGAAGCACTGGTCAGG -3'

Sequencing Primer
(F):5'- GCTATCCCTGTCTGCAGAG -3'
(R):5'- AAGGCCCTGTGAAAGCCTC -3'

Posted On

2017-10-10