Mutagenetix > Incidental Mutation

Incidental Mutation 'R4298:Zwilch'

368398

Institutional Source

Beutler Lab

Gene Symbol

Zwilch

Ensembl Gene

ENSMUSG00000032400

Gene Name

zwilch kinetochore protein

Synonyms

MMRRC Submission

041086-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R4298 (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: 99.4%
3x: 98.8%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (54/54)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	C	8: 86,531,525		probably null	Het
Ccser2	T	A	14: 36,890,380	Q158L	possibly damaging	Het
Cct7	T	A	6: 85,468,173	C469S	probably damaging	Het
Chmp7	A	T	14: 69,719,201		probably null	Het
Clcn4	C	T	7: 7,296,738	D31N	possibly damaging	Het
Col9a2	C	G	4: 121,054,258	R599G	probably damaging	Het
Ctdp1	A	T	18: 80,449,957	V441E	probably benign	Het
Cyp4a10	T	C	4: 115,532,692	L498P	probably damaging	Het
Dsc3	A	T	18: 19,980,754	N370K	possibly damaging	Het
Dusp12	G	A	1: 170,880,629	T173M	probably benign	Het
Ebf3	C	T	7: 137,225,229	R318Q	possibly damaging	Het
Epcam	T	C	17: 87,640,534		probably null	Het
Erich6	G	T	3: 58,624,291	A428D	probably benign	Het
Ext1	A	T	15: 53,345,125	I80N	probably benign	Het
Extl1	T	C	4: 134,357,658	E667G	probably damaging	Het
F2	T	G	2: 91,629,320		probably null	Het
Fbxw16	T	C	9: 109,446,557	I135V	probably benign	Het
Glipr1l1	A	T	10: 112,062,347	D119V	probably benign	Het
Gprc5b	G	A	7: 118,984,214	A144V	possibly damaging	Het
Lmbrd2	G	A	15: 9,165,795	R252H	possibly damaging	Het
Lyst	A	G	13: 13,634,887	T381A	probably damaging	Het
Mcpt4	A	T	14: 56,060,987	V97D	possibly damaging	Het
Nefh	A	G	11: 4,940,066	I851T	probably benign	Het
Nf1	A	T	11: 79,384,244	I44F	probably damaging	Het
Nyap2	A	T	1: 81,241,096	I278F	probably damaging	Het
Olfr1263	A	T	2: 90,015,649	T240S	probably benign	Het
Olfr268-ps1	G	T	2: 111,844,444		noncoding transcript	Het
Pdcd4	C	A	19: 53,919,661	P201Q	probably damaging	Het
Pramef25	A	T	4: 143,949,143	L371*	probably null	Het
Prdm11	T	C	2: 92,993,383	T179A	probably benign	Het
Qrfpr	T	A	3: 36,189,554	I133F	probably damaging	Het
Rack1	T	C	11: 48,801,626		probably benign	Het
Reln	A	C	5: 21,920,487	C2733G	probably damaging	Het
Rrs1	C	T	1: 9,546,223	R234C	possibly damaging	Het
Sag	G	C	1: 87,845,015	D402H	probably benign	Het
Sbk3	T	A	7: 4,969,980	T64S	probably benign	Het
Setx	GTGGCT	GT	2: 29,154,061	1814	probably null	Het
Sh3gl1	C	T	17: 56,019,173	G111D	probably damaging	Het
Spata20	G	A	11: 94,483,088	R379W	probably damaging	Het
St3gal2	T	C	8: 110,962,359	M177T	probably benign	Het
Stk39	C	T	2: 68,390,940	G213D	probably damaging	Het
Szt2	A	G	4: 118,365,406		probably benign	Het
Taf1d	T	C	9: 15,308,643	S63P	probably damaging	Het
Tnfrsf13b	C	G	11: 61,140,817		probably null	Het
Ttn	G	T	2: 76,724,050	A30807D	probably damaging	Het
Unc119	A	G	11: 78,348,122	N158S	probably damaging	Het
Vmn2r116	T	A	17: 23,401,827	I845N	possibly damaging	Het
Vmn2r12	C	A	5: 109,091,964	M244I	probably benign	Het
Zdhhc4	A	G	5: 143,324,242	V87A	probably 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
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
R9545:Zwilch	UTSW	9	64144133	missense	probably damaging	1.00
R9619:Zwilch	UTSW	9	64150158	missense	probably benign	0.05
R9711:Zwilch	UTSW	9	64156021	missense	probably damaging	0.99
R9777:Zwilch	UTSW	9	64146888	missense	probably damaging	1.00

Predicted Primers

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

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

Posted On

2016-02-04