Mutagenetix > Incidental Mutations

Incidental Mutation 'R7104:Zwilch'

551060

Institutional Source

Beutler Lab

Gene Symbol

Zwilch

Ensembl Gene

ENSMUSG00000032400

Gene Name

zwilch kinetochore protein

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7104 (G1)

Quality Score

211.009

Status

Not validated

Chromosome

Chromosomal Location

64137144-64173104 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 64161376 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 203 (S203P)

Ref Sequence

ENSEMBL: ENSMUSP00000112790 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000122091
AA Change: S203P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000112790
Gene: ENSMUSG00000032400
AA Change: S203P

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 benign
Transcript: ENSMUST00000130127

SMART Domains

Protein: ENSMUSP00000116187
Gene: ENSMUSG00000032400

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000176299
AA Change: S82P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135585
Gene: ENSMUSG00000032400
AA Change: S82P

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 damaging
Transcript: ENSMUST00000176794
AA Change: S203P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000134850
Gene: ENSMUSG00000032400
AA Change: S203P

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000177045
AA Change: S184P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000135328
Gene: ENSMUSG00000032400
AA Change: S184P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,194,444	L897P	possibly damaging	Het
Agbl2	A	G	2: 90,797,547	E232G	probably damaging	Het
Atf7	A	G	15: 102,534,235	S480P	probably benign	Het
Cdk14	A	G	5: 5,195,325	I166T	possibly damaging	Het
Cdk5rap2	G	T	4: 70,349,156	F358L	probably benign	Het
Cytip	A	G	2: 58,159,974	S28P	probably benign	Het
Dennd5b	C	T	6: 149,044,604	R503Q	probably damaging	Het
Dnajc10	T	A	2: 80,340,815	C480S	probably damaging	Het
Drc7	A	G	8: 95,059,083	D189G	probably damaging	Het
Engase	G	A	11: 118,481,295	V138M	probably damaging	Het
Esyt3	C	A	9: 99,338,787	R121L	probably damaging	Het
Frem1	T	G	4: 82,940,681	I1516L	probably benign	Het
Gatad2b	T	A	3: 90,351,417	I249N	probably damaging	Het
Grk6	T	C	13: 55,454,406	S383P	probably benign	Het
Hectd1	C	T	12: 51,827,351		probably null	Het
Hipk2	A	G	6: 38,818,644	L230P	probably damaging	Het
Hivep1	A	T	13: 42,157,338	Q1018L	probably benign	Het
Itgad	T	C	7: 128,198,378	F927S	probably benign	Het
Itgb3bp	A	G	4: 99,814,098	V3A	probably damaging	Het
Kcnh7	G	T	2: 62,787,687	A486D	possibly damaging	Het
Krt2	T	C	15: 101,815,087	T318A	probably benign	Het
Ndrg1	A	G	15: 66,946,528	F77S	probably damaging	Het
Nlrp4c	T	A	7: 6,065,709	L203*	probably null	Het
Nos1	T	A	5: 117,947,431	C1275S	probably damaging	Het
Olfr1052	T	A	2: 86,298,220	S135T	probably benign	Het
Olfr1167	T	C	2: 88,149,372	T216A	possibly damaging	Het
Olfr1241	A	G	2: 89,483,114	V7A	possibly damaging	Het
Olfr1431	T	C	19: 12,209,878	I104T	possibly damaging	Het
Olfr294	T	C	7: 86,615,692	S318G	probably null	Het
Olfr875	A	T	9: 37,773,141	N161Y	possibly damaging	Het
Pip4k2b	T	C	11: 97,732,716	M67V	possibly damaging	Het
Polq	C	A	16: 37,089,353	Y2366*	probably null	Het
Prg3	T	C	2: 84,988,753	S8P	probably benign	Het
Prl7c1	A	T	13: 27,778,969	L17*	probably null	Het
Prl8a8	A	T	13: 27,511,496	S51R	probably damaging	Het
Pttg1	G	C	11: 43,421,149	P160A	probably benign	Het
Rbfox1	C	A	16: 7,353,003	R276S	possibly damaging	Het
Rnase2a	T	G	14: 51,255,531	M126L	probably benign	Het
Secisbp2	A	T	13: 51,656,907	K202*	probably null	Het
Sema6c	A	G	3: 95,168,845	H236R	possibly damaging	Het
Sept12	A	G	16: 4,991,993	L181P	probably damaging	Het
Shc3	A	T	13: 51,431,205	V458D	possibly damaging	Het
Tecta	A	G	9: 42,366,943	Y1090H	probably benign	Het
Thsd7a	A	T	6: 12,379,430	N998K		Het
Tmem131l	A	T	3: 83,919,459	S1184T	possibly damaging	Het
Tnfsf15	T	C	4: 63,729,650	D251G	probably damaging	Het
Ttyh3	T	C	5: 140,629,785	E348G	probably benign	Het
Unc5c	T	C	3: 141,733,904	L186P	probably damaging	Het
Vmn2r37	A	T	7: 9,216,046	N446K	probably damaging	Het
Vmn2r63	T	C	7: 42,928,535	D193G	possibly damaging	Het
Vmn2r85	A	T	10: 130,426,507	M121K	probably benign	Het
Vmn2r88	A	G	14: 51,413,796	D189G		Het
Vwc2l	C	A	1: 70,729,093	C105*	probably null	Het
Wdr72	T	A	9: 74,148,315	D275E	probably damaging	Het
Zfhx4	A	T	3: 5,402,489	D2594V	probably damaging	Het
Zfp174	C	T	16: 3,854,405	H273Y	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
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
R7691:Zwilch	UTSW	9	64156091	missense	probably benign	0.18
R7743:Zwilch	UTSW	9	64152935	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCAGAGAGCAGGGGATAACT -3'
(R):5'- CCATACCAGTATGCCTAGCTATTTA -3'

Sequencing Primer
(F):5'- AACTCTGCCCTGGCTGATATAAG -3'
(R):5'- TGGAACTCACTCTATAGGCTAGGC -3'

Posted On

2019-05-15