Mutagenetix > Incidental Mutations

Incidental Mutation 'R5865:Zwilch'

454126

Institutional Source

Beutler Lab

Gene Symbol

Zwilch

Ensembl Gene

ENSMUSG00000032400

Gene Name

zwilch kinetochore protein

Synonyms

MMRRC Submission

044074-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R5865 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64137144-64173104 bp(-) (GRCm38)

Type of Mutation

start gained

DNA Base Change (assembly)

T to A at 64172908 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000135328 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034966] [ENSMUST00000122091] [ENSMUST00000130127] [ENSMUST00000176299] [ENSMUST00000176378] [ENSMUST00000176794] [ENSMUST00000177045]

Predicted Effect

probably benign
Transcript: ENSMUST00000034966

SMART Domains

Protein: ENSMUSP00000034966
Gene: ENSMUSG00000032399

Domain	Start	End	E-Value	Type
Pfam:Ribosomal_L4	22	263	9.7e-47	PFAM
Pfam:Ribos_L4_asso_C	275	349	4e-34	PFAM
low complexity region	352	367	N/A	INTRINSIC
low complexity region	375	419	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082580

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000082984

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083425

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083818

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083895

Predicted Effect

probably benign
Transcript: ENSMUST00000122091

SMART Domains

Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400

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

Predicted Effect

probably benign
Transcript: ENSMUST00000124301

SMART Domains

Protein: ENSMUSP00000134966
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
PDB:3IF8\|A	3	74	3e-31	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000130127

SMART Domains

Protein: ENSMUSP00000116187
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	72	154	8e-30	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000151428

Predicted Effect

probably null
Transcript: ENSMUST00000176299

SMART Domains

Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400

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

Predicted Effect

probably benign
Transcript: ENSMUST00000176378

SMART Domains

Protein: ENSMUSP00000134782
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
PDB:3IF8\|A	3	74	1e-31	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000176794

SMART Domains

Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400

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

Predicted Effect

probably null
Transcript: ENSMUST00000177045

SMART Domains

Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400

Domain	Start	End	E-Value	Type
Pfam:DUF2352	19	303	2.2e-93	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217055

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000213760

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 96.7%
20x: 88.7%

Validation Efficiency

91% (59/65)

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	G	A	3: 32,712,128	V48M	possibly damaging	Het
Adamts2	T	G	11: 50,803,954	Y1189*	probably null	Het
Bpifb9a	T	C	2: 154,266,836	I419T	probably benign	Het
Ccbe1	A	T	18: 66,083,151	I167N	possibly damaging	Het
Ccdc187	T	C	2: 26,293,368	T207A	probably benign	Het
Cd300lf	G	A	11: 115,126,300	L66F	probably damaging	Het
Cenpk	A	G	13: 104,236,194	*92W	probably null	Het
Col12a1	A	T	9: 79,604,478	S2950R	probably benign	Het
Dnah3	T	C	7: 119,975,108	T2154A	probably benign	Het
Ebna1bp2	A	T	4: 118,621,135		probably benign	Het
Elac2	G	T	11: 64,997,957	C532F	probably benign	Het
Fam171a1	T	A	2: 3,225,337	D377E	probably benign	Het
Haus6	A	G	4: 86,586,357	C466R	possibly damaging	Het
Il4ra	T	C	7: 125,575,176	S297P	probably benign	Het
Itgb4	C	T	11: 115,990,922	R766W	probably damaging	Het
Kank4	T	C	4: 98,771,393	Y816C	possibly damaging	Het
Kcnc4	A	T	3: 107,458,199		probably null	Het
Kif21b	C	T	1: 136,151,137	R408*	probably null	Het
Lrrc31	A	G	3: 30,679,140	V475A	probably benign	Het
Map2k1	C	T	9: 64,191,266		probably null	Het
Mc3r	T	A	2: 172,249,672	N271K	possibly damaging	Het
Ms4a14	A	G	19: 11,304,217	S326P	possibly damaging	Het
Muc6	T	A	7: 141,650,504	I358F	probably damaging	Het
Myo5c	A	G	9: 75,297,488	D1541G	probably damaging	Het
Myof	T	C	19: 37,910,934	S1793G	probably damaging	Het
Nfkb1	T	A	3: 135,603,780	T518S	probably damaging	Het
Nphs1	T	A	7: 30,474,385	I989N	probably damaging	Het
Olfr1024	T	C	2: 85,904,521	T178A	probably benign	Het
Pcdha5	T	C	18: 36,961,421	F328L	probably benign	Het
Pclo	T	A	5: 14,714,478	S4322T	probably benign	Het
Peg10	A	G	6: 4,754,375	N52S	probably damaging	Het
Phf10	A	C	17: 14,955,010		probably benign	Het
Psme4	T	C	11: 30,791,993	I152T	possibly damaging	Het
Ptpn18	T	A	1: 34,471,563		probably benign	Het
Rufy4	A	T	1: 74,146,755	Y527F	probably damaging	Het
Snx32	T	C	19: 5,496,354	M293V	probably benign	Het
Sorl1	A	T	9: 41,983,034	L1827M	possibly damaging	Het
Sstr5	T	A	17: 25,491,244	D337V	probably benign	Het
Tcaf3	A	G	6: 42,596,697	F194L	probably benign	Het
Tcerg1	T	A	18: 42,536,348	W459R	probably damaging	Het
Tet2	T	A	3: 133,487,099	I525L	probably benign	Het
Tmem55b	A	G	14: 50,928,875		probably benign	Het
Trim43b	C	T	9: 89,085,606	V325I	probably benign	Het
Txndc11	A	T	16: 11,122,688	I180K	probably damaging	Het
Vmn1r193	A	G	13: 22,219,225	L199P	probably damaging	Het
Vmn2r110	A	G	17: 20,584,295	M121T	probably benign	Het
Zfhx4	G	C	3: 5,402,659	A2626P	probably damaging	Het
Zfp445	C	T	9: 122,853,487	S463N	probably benign	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
IGL02733:Zwilch	APN	9	64146836	missense	probably benign	0.12
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
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

Predicted Primers

PCR Primer
(F):5'- TCACATCCCAGGTCCAGGAAAG -3'
(R):5'- TCACAACTCTCGCGAGAATTATC -3'

Sequencing Primer
(F):5'- TCCAGGAAAGCCGGCAG -3'
(R):5'- AACTCTCGCGAGAATTATCTTTCTC -3'

Posted On

2017-02-10