Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02733:Zwilch'

305552

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zwilch

Ensembl Gene

ENSMUSG00000032400

Gene Name

zwilch kinetochore protein

Synonyms

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02733

Quality Score

Status

Chromosome

Chromosomal Location

64137144-64173104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 64146836 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 526 (N526K)

Ref Sequence

ENSEMBL: ENSMUSP00000112790 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000122091] [ENSMUST00000143421] [ENSMUST00000176299] [ENSMUST00000176794]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000122091
AA Change: N526K

PolyPhen 2 Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: N526K

Domain	Start	End	E-Value	Type
Pfam:DUF2352	38	589	6e-206	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138075

Predicted Effect

probably benign
Transcript: ENSMUST00000143421

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148428

Predicted Effect

probably benign
Transcript: ENSMUST00000152824

SMART Domains

Protein: ENSMUSP00000115556
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	1	51	7.4e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176299
AA Change: N405K

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: N405K

Domain	Start	End	E-Value	Type
Pfam:DUF2352	1	471	2.9e-192	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176794
AA Change: N502K

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: N502K

Domain	Start	End	E-Value	Type
Pfam:DUF2352	38	257	8e-67	PFAM
Pfam:DUF2352	254	568	4.4e-131	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176848

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acnat1	T	A	4: 49,447,793	T245S	probably benign	Het
Agl	T	C	3: 116,780,997	I718V	probably benign	Het
Cbs	T	A	17: 31,625,031	N209Y	probably benign	Het
Cd163	T	C	6: 124,325,341	C955R	probably damaging	Het
Dnajb3	A	G	1: 88,204,940		probably benign	Het
Dopey2	G	A	16: 93,739,191	R59Q	possibly damaging	Het
Dtx1	A	G	5: 120,681,435	L566P	probably damaging	Het
Fam198a	A	G	9: 121,965,028	R83G	probably benign	Het
Fgf14	G	T	14: 123,983,801	P197Q	probably damaging	Het
Gcc1	G	A	6: 28,420,662	Q66*	probably null	Het
Gypc	T	C	18: 32,559,826		probably benign	Het
Helz2	G	A	2: 181,235,026	A1225V	probably benign	Het
Herc1	A	G	9: 66,450,992	T2452A	probably benign	Het
Hoxc4	A	G	15: 103,034,726	I2V	probably benign	Het
Impa1	A	G	3: 10,328,965	I14T	probably benign	Het
Itih1	T	A	14: 30,936,720	D400V	probably damaging	Het
Lama3	T	C	18: 12,578,127	Y3206H	probably damaging	Het
Lce1k	T	A	3: 92,806,885		probably benign	Het
Mcpt4	C	T	14: 56,060,667	M142I	probably benign	Het
Myo15b	A	G	11: 115,884,250	E2168G	probably benign	Het
Myom3	G	T	4: 135,814,303	E1402*	probably null	Het
Nfyb	G	T	10: 82,755,033	Q55K	probably damaging	Het
Nobox	T	C	6: 43,307,202	K137E	possibly damaging	Het
Pnlip	T	A	19: 58,680,788	D406E	probably benign	Het
Pole	A	T	5: 110,312,728		probably benign	Het
Ppp2r2b	T	C	18: 42,648,728	Y336C	possibly damaging	Het
Prkg1	T	C	19: 31,302,301	T178A	probably damaging	Het
Prr11	C	T	11: 87,103,545	A92T	possibly damaging	Het
Racgap1	G	T	15: 99,639,704	S67R	probably damaging	Het
Scn10a	G	A	9: 119,616,705	P1462S	probably damaging	Het
Sptbn1	T	C	11: 30,197,747	E29G	probably benign	Het
Srrm1	G	A	4: 135,325,104	P658L	unknown	Het
Vmn2r72	T	A	7: 85,751,813	T133S	probably benign	Het
Zbtb20	A	G	16: 43,609,933	H269R	possibly damaging	Het

Other mutations in Zwilch

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02315:Zwilch	APN	9	64150267	missense	probably damaging	1.00
IGL02365:Zwilch	APN	9	64160924	missense	probably damaging	1.00
IGL02818:Zwilch	APN	9	64150227	missense	probably damaging	0.99
R1171:Zwilch	UTSW	9	64158717	missense	possibly damaging	0.56
R1913:Zwilch	UTSW	9	64160952	missense	probably damaging	1.00
R2079:Zwilch	UTSW	9	64153574	missense	probably damaging	1.00
R2079:Zwilch	UTSW	9	64153575	missense	probably damaging	1.00
R3772:Zwilch	UTSW	9	64156034	missense	probably benign	0.03
R4171:Zwilch	UTSW	9	64158715	nonsense	probably null
R4298:Zwilch	UTSW	9	64155162	critical splice donor site	probably null
R4299:Zwilch	UTSW	9	64155162	critical splice donor site	probably null
R4901:Zwilch	UTSW	9	64162746	missense	probably damaging	1.00
R5106:Zwilch	UTSW	9	64153584	missense	probably damaging	1.00
R5208:Zwilch	UTSW	9	64152923	missense	probably benign	0.00
R5215:Zwilch	UTSW	9	64146874	missense	probably benign
R5413:Zwilch	UTSW	9	64168610	splice site	probably null
R5865:Zwilch	UTSW	9	64172908	start gained	probably null
R6221:Zwilch	UTSW	9	64161383	missense	probably damaging	1.00
R6858:Zwilch	UTSW	9	64153587	missense	probably damaging	1.00
R6957:Zwilch	UTSW	9	64162562	critical splice donor site	probably null
R6995:Zwilch	UTSW	9	64165449	nonsense	probably null
R7104:Zwilch	UTSW	9	64161376	missense	probably damaging	1.00
R7595:Zwilch	UTSW	9	64149264	intron	probably benign
R7691:Zwilch	UTSW	9	64156091	missense	probably benign	0.18
R7743:Zwilch	UTSW	9	64152935	missense	probably damaging	1.00
R8378:Zwilch	UTSW	9	64152958	missense	possibly damaging	0.94
R9068:Zwilch	UTSW	9	64168660	missense	probably benign	0.01

Posted On

2015-04-16