Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00775:Champ1'

15003

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Champ1

Ensembl Gene

ENSMUSG00000047710

Gene Name

chromosome alignment maintaining phosphoprotein 1

Synonyms

Zfp828, D8Ertd457e, D8Ertd569e

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.934) question?

Stock #

IGL00775

Quality Score

Status

Chromosome

Chromosomal Location

13869641-13881639 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13879509 bp

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 556 (S556P)

Ref Sequence

ENSEMBL: ENSMUSP00000120117 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000051870] [ENSMUST00000128557]

Predicted Effect

probably damaging
Transcript: ENSMUST00000051870
AA Change: S556P

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

SMART Domains

Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: S556P

Domain	Start	End	E-Value	Type
ZnF_C2H2	14	37	1.62e0	SMART
ZnF_C2H2	62	85	2.29e1	SMART
internal_repeat_1	109	278	1.19e-9	PROSPERO
low complexity region	298	318	N/A	INTRINSIC
low complexity region	354	368	N/A	INTRINSIC
internal_repeat_1	373	534	1.19e-9	PROSPERO
low complexity region	602	613	N/A	INTRINSIC
low complexity region	677	690	N/A	INTRINSIC
ZnF_C2H2	699	722	2.68e1	SMART
ZnF_C2H2	728	750	1.79e-2	SMART
ZnF_C2H2	755	776	2.23e1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000083883

Predicted Effect

probably damaging
Transcript: ENSMUST00000128557
AA Change: S556P

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

SMART Domains

Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: S556P

Domain	Start	End	E-Value	Type
ZnF_C2H2	14	37	1.62e0	SMART
ZnF_C2H2	62	85	2.29e1	SMART
internal_repeat_1	109	278	5.23e-7	PROSPERO
low complexity region	298	318	N/A	INTRINSIC
low complexity region	354	368	N/A	INTRINSIC
internal_repeat_1	373	534	5.23e-7	PROSPERO
low complexity region	602	613	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000197610

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a zinc finger protein that functions as a regulator of chromosome segregation in mitosis. The encoded protein is required for correct alignment of chromosomes on the metaphase plate, and plays a role in maintaining the attachment of sister kinetochores to microtubules from opposite spindle poles. Mutations in this gene are associated with autosomal dominant mental retardation-40. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700007G11Rik	T	C	5: 98,784,510	Y190H	probably benign	Het
Acsm1	A	G	7: 119,658,301	N403S	possibly damaging	Het
Adam32	T	C	8: 24,921,354	Y92C	probably damaging	Het
Ankfy1	G	A	11: 72,728,772	G157D	probably benign	Het
Dnah8	T	G	17: 30,767,906	Y3176*	probably null	Het
Gbp8	T	C	5: 105,017,845	N314S	probably damaging	Het
Kif1c	A	G	11: 70,724,134		probably null	Het
Pcdhb22	T	C	18: 37,519,742	V421A	probably benign	Het
Plag1	A	G	4: 3,904,055	S379P	probably damaging	Het
Skint11	A	T	4: 114,194,692	D79V	probably damaging	Het
Tdp2	A	G	13: 24,840,538	T273A	probably damaging	Het
Utrn	A	G	10: 12,745,230		probably null	Het
Zscan21	C	A	5: 138,133,048	S99*	probably null	Het

Other mutations in Champ1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Champ1	APN	8	13879522	missense	possibly damaging	0.68
IGL02451:Champ1	APN	8	13878739	missense	probably damaging	1.00
IGL03283:Champ1	APN	8	13878786	missense	probably benign	0.04
PIT4810001:Champ1	UTSW	8	13879234	missense	probably benign	0.37
R0664:Champ1	UTSW	8	13879485	missense	probably damaging	0.96
R2219:Champ1	UTSW	8	13880017	missense	probably damaging	1.00
R3077:Champ1	UTSW	8	13878832	missense	probably benign
R3735:Champ1	UTSW	8	13878735	missense	probably damaging	1.00
R3838:Champ1	UTSW	8	13879939	missense	probably damaging	1.00
R4714:Champ1	UTSW	8	13878063	missense	probably damaging	1.00
R4933:Champ1	UTSW	8	13879137	missense	probably benign	0.14
R5294:Champ1	UTSW	8	13878981	missense	probably damaging	1.00
R5893:Champ1	UTSW	8	13878777	missense	probably benign	0.08
R6548:Champ1	UTSW	8	13880002	missense	probably damaging	1.00
R7261:Champ1	UTSW	8	13878517	missense	possibly damaging	0.90
R7467:Champ1	UTSW	8	13878579	missense	possibly damaging	0.89
R7747:Champ1	UTSW	8	13879990	missense	probably damaging	1.00

Posted On

2012-12-06