Mutagenetix > Incidental Mutations

Incidental Mutation 'R4299:Zwilch'

371105

Institutional Source

Beutler Lab

Gene Symbol

Zwilch

Ensembl Gene

ENSMUSG00000032400

Gene Name

zwilch kinetochore protein

Synonyms

MMRRC Submission

041087-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4299 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

64137144-64173104 bp(-) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

A to G at 64155162 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134850 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000122091

SMART Domains

Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138075

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 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 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 benign
Transcript: ENSMUST00000177045

SMART Domains

Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400

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

Meta Mutation Damage Score

0.9496

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

97% (76/78)

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930548H24Rik	A	G	5: 31,487,526	R208G	possibly damaging	Het
Abcc12	T	C	8: 86,531,525		probably null	Het
Akna	A	T	4: 63,398,032	D31E	possibly damaging	Het
Apbb2	A	T	5: 66,313,378	H528Q	probably damaging	Het
Atp6v1g3	C	A	1: 138,283,724	Y47*	probably null	Het
AW551984	T	C	9: 39,592,979	T564A	probably benign	Het
BC048403	C	A	10: 121,745,446	H117Q	probably benign	Het
C4b	T	C	17: 34,731,144	D1384G	possibly damaging	Het
C87499	T	C	4: 88,628,182	K137E	probably damaging	Het
Cbfa2t2	G	A	2: 154,523,928	V353I	probably damaging	Het
Cdh7	T	C	1: 110,061,001	I211T	probably damaging	Het
Cep170b	T	C	12: 112,739,305	S1166P	probably damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Crygs	G	A	16: 22,805,411	Q149*	probably null	Het
Cyp2c70	T	C	19: 40,183,928	Q90R	probably benign	Het
Cyp3a41b	T	C	5: 145,573,677	Y129C	possibly damaging	Het
Dnah10	A	G	5: 124,819,925	T3645A	probably damaging	Het
Dolk	A	T	2: 30,285,188	W282R	probably damaging	Het
Dsg2	T	A	18: 20,595,951		probably null	Het
Dysf	A	G	6: 84,068,077	T297A	possibly damaging	Het
Flt1	G	T	5: 147,683,907	D142E	probably benign	Het
Frmd4a	C	A	2: 4,333,071	N29K	probably benign	Het
Fxyd7	A	T	7: 31,044,982	M36K	probably benign	Het
Gabbr1	C	T	17: 37,055,900	R178*	probably null	Het
Gm14139	G	A	2: 150,190,733	D17N	probably damaging	Het
Gnal	C	G	18: 67,088,583	P19R	unknown	Het
Gprc5b	G	A	7: 118,984,214	A144V	possibly damaging	Het
Il1rapl1	A	T	X: 87,300,707	I194N	probably damaging	Het
Klhl24	T	C	16: 20,107,004	M94T	probably damaging	Het
Kmt2e	T	A	5: 23,464,914	I133N	probably damaging	Het
Macf1	A	G	4: 123,399,406	I5381T	probably damaging	Het
Madd	A	G	2: 91,169,803	L197P	probably damaging	Het
Mapkapk3	G	A	9: 107,257,449	T296M	probably damaging	Het
Micall2	T	C	5: 139,709,471		probably benign	Het
Myh9	T	C	15: 77,769,964	T1214A	probably benign	Het
Ncapd3	A	G	9: 27,052,327	N492S	probably benign	Het
Neurl4	A	C	11: 69,909,061	D1055A	probably damaging	Het
Nrbp1	T	C	5: 31,250,599		probably null	Het
Olfr1052	A	T	2: 86,298,241	I142F	possibly damaging	Het
Olfr27	T	C	9: 39,144,999	S300P	probably benign	Het
Olfr380	A	T	11: 73,454,001	D70E	probably damaging	Het
Olfr421-ps1	T	A	1: 174,152,312	Y265*	probably null	Het
Olfr53	T	C	7: 140,652,243	V88A	probably benign	Het
Olfr67	T	A	7: 103,787,995	H94L	probably benign	Het
Olfr901	T	G	9: 38,430,812	Y177D	probably damaging	Het
Olfr933	T	A	9: 38,975,759	F28I	probably damaging	Het
Patj	C	A	4: 98,677,321	N1090K	possibly damaging	Het
Pde8a	A	G	7: 81,328,035	D692G	probably benign	Het
Ppa2	G	T	3: 133,367,842	K220N	probably damaging	Het
Rad54b	A	G	4: 11,597,865	H250R	probably damaging	Het
Reln	A	C	5: 21,920,487	C2733G	probably damaging	Het
Rgs14	A	G	13: 55,383,753	T497A	probably damaging	Het
Rpl13-ps3	T	A	14: 58,893,523		noncoding transcript	Het
Scn11a	T	G	9: 119,765,506	I1274L	probably damaging	Het
Sco1	A	T	11: 67,055,800	H133L	possibly damaging	Het
Slc4a8	T	C	15: 100,796,640		probably null	Het
Smc2	C	T	4: 52,440,238		probably benign	Het
Spata18	T	C	5: 73,666,902	I156T	probably benign	Het
St3gal2	T	C	8: 110,962,359	M177T	probably benign	Het
Stt3a	A	G	9: 36,763,344	F48L	probably damaging	Het
Syvn1	C	T	19: 6,049,921		probably benign	Het
Szt2	A	G	4: 118,365,406		probably benign	Het
Telo2	A	T	17: 25,115,256	S6T	possibly damaging	Het
Tnfrsf11b	T	C	15: 54,252,095	M369V	probably benign	Het
Tnfrsf13b	C	G	11: 61,140,817		probably null	Het
Vmn1r234	A	T	17: 21,229,021	M66L	probably benign	Het
Vmn2r12	C	A	5: 109,091,964	M244I	probably benign	Het
Wdfy2	T	A	14: 62,925,140	L97*	probably null	Het
Wdr63	C	T	3: 146,068,806	D429N	probably damaging	Het
Xrcc5	T	C	1: 72,394,720	*733Q	probably null	Het
Zadh2	A	T	18: 84,094,501	I101F	possibly damaging	Het
Zfp516	G	A	18: 82,987,497	G842D	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
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
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

Predicted Primers

PCR Primer
(F):5'- CTCCACAGGAAAGGGAGTTC -3'
(R):5'- GGCTGACATACTGGTAGTTTGC -3'

Sequencing Primer
(F):5'- AACTGAGAGTAACTGCTTATCCCTC -3'
(R):5'- ACTGGTAGTTTGCTAAAGTCCCAG -3'

Posted On

2016-02-17