Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01924:Spindoc'

180192

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Spindoc

Ensembl Gene

ENSMUSG00000024970

Gene Name

spindlin interactor and repressor of chromatin binding

Synonyms

AI846148

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.149) question?

Stock #

IGL01924

Quality Score

Status

Chromosome

Chromosomal Location

7331443-7360359 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7360042 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 42 (L42P)

Ref Sequence

ENSEMBL: ENSMUSP00000025924 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025924]

AlphaFold

Q05AH6

Predicted Effect

probably damaging
Transcript: ENSMUST00000025924
AA Change: L42P

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000025924
Gene: ENSMUSG00000024970
AA Change: L42P

Domain	Start	End	E-Value	Type
low complexity region	21	34	N/A	INTRINSIC
Blast:ZnF_C2H2	91	115	1e-6	BLAST
low complexity region	186	203	N/A	INTRINSIC
low complexity region	243	256	N/A	INTRINSIC
low complexity region	304	315	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186160

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	C	T	5: 114,362,047 (GRCm39)		probably benign	Het
Adamts13	A	G	2: 26,886,595 (GRCm39)	E938G	possibly damaging	Het
Aox1	C	T	1: 58,326,902 (GRCm39)	T167I	possibly damaging	Het
Apba3	G	T	10: 81,108,907 (GRCm39)	A557S	probably benign	Het
Atad2b	T	C	12: 5,084,093 (GRCm39)	L1382P	probably damaging	Het
Atrn	C	T	2: 130,777,485 (GRCm39)	T178I	probably damaging	Het
B4galnt1	A	G	10: 127,002,630 (GRCm39)	S88G	probably benign	Het
Baz2b	T	C	2: 59,765,615 (GRCm39)	K887E	probably damaging	Het
Castor2	T	C	5: 134,164,441 (GRCm39)	F134S	probably benign	Het
Ccdc162	A	C	10: 41,445,883 (GRCm39)	F430V	probably damaging	Het
Cdc42bpb	T	A	12: 111,283,887 (GRCm39)		probably benign	Het
Cfhr4	G	A	1: 139,666,944 (GRCm39)	L444F	probably damaging	Het
Chit1	A	G	1: 134,077,148 (GRCm39)	D317G	probably benign	Het
Chrnb1	A	T	11: 69,685,845 (GRCm39)		probably benign	Het
Cobl	G	T	11: 12,204,596 (GRCm39)	T620K	probably benign	Het
Creld1	T	C	6: 113,460,921 (GRCm39)	F20L	probably benign	Het
Csmd2	A	T	4: 128,453,740 (GRCm39)	D3475V	unknown	Het
Cyp3a57	A	G	5: 145,309,439 (GRCm39)	D259G	probably benign	Het
Dbnl	A	G	11: 5,747,142 (GRCm39)	Y224C	probably damaging	Het
Det1	A	T	7: 78,493,571 (GRCm39)	C144*	probably null	Het
Fbxo47	G	T	11: 97,746,986 (GRCm39)	A360D	probably damaging	Het
Frrs1	G	A	3: 116,678,888 (GRCm39)	G237R	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm5862	A	C	5: 26,227,769 (GRCm39)	W41G	probably benign	Het
Gria2	T	C	3: 80,617,638 (GRCm39)	T372A	probably benign	Het
Hmcn2	A	T	2: 31,288,929 (GRCm39)	Q2246L	probably benign	Het
Ide	T	C	19: 37,249,563 (GRCm39)	M930V	unknown	Het
Kdm5a	T	C	6: 120,371,216 (GRCm39)		probably null	Het
Khnyn	A	G	14: 56,132,426 (GRCm39)	T625A	probably benign	Het
Lrrtm1	T	C	6: 77,221,169 (GRCm39)	F209L	possibly damaging	Het
Med13	C	A	11: 86,199,522 (GRCm39)		probably benign	Het
Myom2	A	G	8: 15,119,685 (GRCm39)	E147G	probably benign	Het
Myrip	T	A	9: 120,217,330 (GRCm39)	V88D	probably damaging	Het
Nbeal2	T	C	9: 110,460,482 (GRCm39)	H1784R	probably benign	Het
Nlrp4e	T	A	7: 23,020,255 (GRCm39)	C247*	probably null	Het
Nup54	G	A	5: 92,572,294 (GRCm39)	P252L	probably benign	Het
Or51ag1	A	G	7: 103,156,003 (GRCm39)	I50T	possibly damaging	Het
Otoa	C	A	7: 120,705,191 (GRCm39)	N244K	probably damaging	Het
Pbrm1	G	A	14: 30,804,561 (GRCm39)	R960H	probably damaging	Het
Ptcd3	A	T	6: 71,875,411 (GRCm39)	N190K	probably damaging	Het
Rhobtb1	T	A	10: 69,106,134 (GRCm39)	L233H	probably damaging	Het
Sec24c	T	A	14: 20,739,757 (GRCm39)	F545I	probably damaging	Het
Slc6a15	T	C	10: 103,240,686 (GRCm39)		probably null	Het
Slitrk1	G	A	14: 109,148,671 (GRCm39)	A680V	probably benign	Het
Smpd1	C	T	7: 105,204,655 (GRCm39)	S178L	probably benign	Het
Tenm4	A	G	7: 96,544,419 (GRCm39)	E2145G	probably damaging	Het
Tmem144	G	T	3: 79,746,501 (GRCm39)	A18E	probably damaging	Het
Tmem213	A	T	6: 38,086,373 (GRCm39)	S10C	possibly damaging	Het
Trav6-3	A	T	14: 53,667,800 (GRCm39)	I102L	probably benign	Het
Trip11	T	G	12: 101,853,143 (GRCm39)	N483T	possibly damaging	Het
Unc13b	C	T	4: 43,239,385 (GRCm39)	R1056*	probably null	Het
Wdr27	T	G	17: 15,137,488 (GRCm39)	K433N	probably damaging	Het
Wls	C	A	3: 159,607,080 (GRCm39)	S189*	probably null	Het
Yeats2	A	G	16: 20,024,917 (GRCm39)	N706D	probably damaging	Het
Zbp1	A	G	2: 173,054,047 (GRCm39)	V158A	probably benign	Het
Zfp595	G	T	13: 67,465,847 (GRCm39)	H139N	possibly damaging	Het

Other mutations in Spindoc

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02288:Spindoc	APN	19	7,335,667 (GRCm39)	nonsense	probably null
R0513:Spindoc	UTSW	19	7,351,509 (GRCm39)	missense	probably benign
R0831:Spindoc	UTSW	19	7,352,100 (GRCm39)	missense	probably benign	0.45
R1444:Spindoc	UTSW	19	7,360,086 (GRCm39)	missense	probably benign
R1636:Spindoc	UTSW	19	7,351,922 (GRCm39)	missense	probably damaging	1.00
R3732:Spindoc	UTSW	19	7,351,666 (GRCm39)	missense	probably damaging	1.00
R3732:Spindoc	UTSW	19	7,351,666 (GRCm39)	missense	probably damaging	1.00
R3733:Spindoc	UTSW	19	7,351,666 (GRCm39)	missense	probably damaging	1.00
R4365:Spindoc	UTSW	19	7,351,219 (GRCm39)	missense	possibly damaging	0.56
R4785:Spindoc	UTSW	19	7,351,456 (GRCm39)	missense	probably benign
R5227:Spindoc	UTSW	19	7,351,512 (GRCm39)	missense	probably benign	0.00
R5982:Spindoc	UTSW	19	7,351,960 (GRCm39)	missense	probably damaging	1.00
R5987:Spindoc	UTSW	19	7,351,024 (GRCm39)	missense	probably benign	0.19
R6538:Spindoc	UTSW	19	7,360,064 (GRCm39)	missense	probably benign	0.17
R6718:Spindoc	UTSW	19	7,335,781 (GRCm39)	missense	probably damaging	0.99
R7102:Spindoc	UTSW	19	7,335,807 (GRCm39)	missense	probably benign	0.00
R7272:Spindoc	UTSW	19	7,360,085 (GRCm39)	missense	possibly damaging	0.77
R8348:Spindoc	UTSW	19	7,335,769 (GRCm39)	missense	possibly damaging	0.64
R8448:Spindoc	UTSW	19	7,335,769 (GRCm39)	missense	possibly damaging	0.64
R9624:Spindoc	UTSW	19	7,352,197 (GRCm39)	missense	probably benign	0.45

Posted On

2014-05-07