Mutagenetix > Incidental Mutation

Incidental Mutation 'R4714:Champ1'

353443

Institutional Source

Beutler Lab

Gene Symbol

Champ1

Ensembl Gene

ENSMUSG00000047710

Gene Name

chromosome alignment maintaining phosphoprotein 1

Synonyms

Zfp828, D8Ertd569e, D8Ertd457e

MMRRC Submission

041956-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.940) question?

Stock #

R4714 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

13919699-13931637 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 13928063 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 74 (Y74H)

Ref Sequence

ENSEMBL: ENSMUSP00000120117 (fasta)

Gene Model

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

AlphaFold

Q8K327

Predicted Effect

probably damaging
Transcript: ENSMUST00000051870
AA Change: Y74H

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

SMART Domains

Protein: ENSMUSP00000057270
Gene: ENSMUSG00000047710
AA Change: Y74H

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: Y74H

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

SMART Domains

Protein: ENSMUSP00000120117
Gene: ENSMUSG00000047710
AA Change: Y74H

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

1x: 99.1%
3x: 98.5%
10x: 97.0%
20x: 94.7%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2700049A03Rik	G	T	12: 71,211,320 (GRCm39)	E685*	probably null	Het
2700049A03Rik	A	T	12: 71,211,321 (GRCm39)	E685V	possibly damaging	Het
4930486L24Rik	A	G	13: 60,992,132 (GRCm39)	V298A	probably damaging	Het
Abca12	A	G	1: 71,360,609 (GRCm39)	V534A	probably benign	Het
Abcb4	A	G	5: 8,980,906 (GRCm39)		probably null	Het
Adam30	A	T	3: 98,070,170 (GRCm39)	S668C	probably damaging	Het
Ap1g1	T	A	8: 110,556,252 (GRCm39)	V196D	probably damaging	Het
Atp11b	G	A	3: 35,888,543 (GRCm39)	V738I	probably benign	Het
Cast	C	T	13: 74,946,834 (GRCm39)	V27I	probably damaging	Het
Cfap54	A	G	10: 92,651,780 (GRCm39)	I3090T	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Cpm	T	C	10: 117,511,890 (GRCm39)	I278T	probably damaging	Het
Dcaf15	T	C	8: 84,828,845 (GRCm39)	T141A	probably benign	Het
Dcun1d1	C	T	3: 35,949,819 (GRCm39)	V244M	probably damaging	Het
Defb8	A	G	8: 19,497,575 (GRCm39)	L12P	probably damaging	Het
Dlg1	A	T	16: 31,609,079 (GRCm39)	I225F	probably damaging	Het
Dync2h1	G	T	9: 7,118,932 (GRCm39)	H2178N	possibly damaging	Het
Enam	A	G	5: 88,651,395 (GRCm39)	E893G	probably damaging	Het
Flt4	T	A	11: 49,518,034 (GRCm39)	L358Q	probably damaging	Het
Frmpd1	A	G	4: 45,284,785 (GRCm39)	Q1202R	probably benign	Het
Ghr	T	A	15: 3,349,879 (GRCm39)	D433V	possibly damaging	Het
Grm7	G	A	6: 111,057,383 (GRCm39)	D328N	possibly damaging	Het
Haus4	T	C	14: 54,779,577 (GRCm39)	D349G	probably benign	Het
Helz	T	C	11: 107,517,542 (GRCm39)		probably null	Het
Hif3a	A	G	7: 16,790,196 (GRCm39)	L69P	probably damaging	Het
Ifit1	A	G	19: 34,625,563 (GRCm39)	E233G	probably damaging	Het
Kcnc2	T	C	10: 112,291,733 (GRCm39)	F307S	possibly damaging	Het
Lrp1b	A	T	2: 41,000,771 (GRCm39)	V2151E	possibly damaging	Het
Lrp5	T	C	19: 3,709,454 (GRCm39)	N92S	probably damaging	Het
Metrnl	C	T	11: 121,606,839 (GRCm39)	A216V	probably damaging	Het
Msh2	A	G	17: 88,026,217 (GRCm39)	T732A	probably damaging	Het
Necab2	T	C	8: 120,194,334 (GRCm39)	L270P	probably damaging	Het
Noc3l	T	C	19: 38,804,157 (GRCm39)	K74E	probably benign	Het
Oas2	A	T	5: 120,871,537 (GRCm39)	L702Q	probably damaging	Het
Or1j1	A	T	2: 36,703,047 (GRCm39)	I19N	probably benign	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or4k1	A	G	14: 50,377,436 (GRCm39)	I220T	possibly damaging	Het
Or4k6	C	A	14: 50,475,824 (GRCm39)	V173L	possibly damaging	Het
Or6c216	A	T	10: 129,678,814 (GRCm39)	N32K	probably damaging	Het
Pax6	A	G	2: 105,525,745 (GRCm39)	H376R	possibly damaging	Het
Pnkd	C	T	1: 74,390,941 (GRCm39)	R376C	probably damaging	Het
Pnpla8	T	C	12: 44,342,696 (GRCm39)	F484S	probably damaging	Het
Psme4	T	A	11: 30,782,573 (GRCm39)	H909Q	probably benign	Het
Rasip1	CGG	CGGG	7: 45,281,820 (GRCm39)		probably null	Het
Rbm47	A	T	5: 66,182,395 (GRCm39)	Y413N	probably damaging	Het
Rnf123	A	G	9: 107,929,638 (GRCm39)		probably null	Het
Ruvbl1	T	A	6: 88,461,412 (GRCm39)	M259K	possibly damaging	Het
Sohlh2	A	G	3: 55,097,950 (GRCm39)	H134R	probably benign	Het
Sorbs2	A	G	8: 46,248,330 (GRCm39)	D447G	possibly damaging	Het
Tank	C	T	2: 61,480,573 (GRCm39)	P370S	probably benign	Het
Tenm4	A	G	7: 96,544,131 (GRCm39)	E2049G	probably damaging	Het
Tnik	A	G	3: 28,648,226 (GRCm39)	H426R	possibly damaging	Het
Trpm6	C	A	19: 18,831,564 (GRCm39)	S1476R	possibly damaging	Het
Trpm7	G	A	2: 126,682,703 (GRCm39)	Q389*	probably null	Het
Ttc28	G	A	5: 111,433,095 (GRCm39)	R2043Q	possibly damaging	Het
Tymp	A	G	15: 89,260,510 (GRCm39)	S103P	probably damaging	Het
Usp40	C	T	1: 87,894,901 (GRCm39)		probably null	Het
Vmn1r202	T	A	13: 22,685,977 (GRCm39)	N147Y	probably damaging	Het
Vmn2r89	T	C	14: 51,689,688 (GRCm39)	S64P	probably damaging	Het
Vps13a	A	T	19: 16,727,220 (GRCm39)	D229E	probably benign	Het
Vps52	A	G	17: 34,180,153 (GRCm39)	I354V	probably benign	Het
Zbtb8os	T	C	4: 129,235,557 (GRCm39)	F90L	probably damaging	Het
Zfp36l1	T	C	12: 80,157,270 (GRCm39)	D37G	possibly damaging	Het
Zfp467	A	G	6: 48,404,751 (GRCm39)	S109P	unknown	Het
Zzef1	T	A	11: 72,728,038 (GRCm39)	C535S	probably damaging	Het

Other mutations in Champ1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00530:Champ1	APN	8	13,929,522 (GRCm39)	missense	possibly damaging	0.68
IGL00775:Champ1	APN	8	13,929,509 (GRCm39)	missense	probably damaging	1.00
IGL02451:Champ1	APN	8	13,928,739 (GRCm39)	missense	probably damaging	1.00
IGL03283:Champ1	APN	8	13,928,786 (GRCm39)	missense	probably benign	0.04
PIT4810001:Champ1	UTSW	8	13,929,234 (GRCm39)	missense	probably benign	0.37
R0664:Champ1	UTSW	8	13,929,485 (GRCm39)	missense	probably damaging	0.96
R2219:Champ1	UTSW	8	13,930,017 (GRCm39)	missense	probably damaging	1.00
R3077:Champ1	UTSW	8	13,928,832 (GRCm39)	missense	probably benign
R3735:Champ1	UTSW	8	13,928,735 (GRCm39)	missense	probably damaging	1.00
R3838:Champ1	UTSW	8	13,929,939 (GRCm39)	missense	probably damaging	1.00
R4933:Champ1	UTSW	8	13,929,137 (GRCm39)	missense	probably benign	0.14
R5294:Champ1	UTSW	8	13,928,981 (GRCm39)	missense	probably damaging	1.00
R5893:Champ1	UTSW	8	13,928,777 (GRCm39)	missense	probably benign	0.08
R6548:Champ1	UTSW	8	13,930,002 (GRCm39)	missense	probably damaging	1.00
R7261:Champ1	UTSW	8	13,928,517 (GRCm39)	missense	possibly damaging	0.90
R7467:Champ1	UTSW	8	13,928,579 (GRCm39)	missense	possibly damaging	0.89
R7747:Champ1	UTSW	8	13,929,990 (GRCm39)	missense	probably damaging	1.00
R9328:Champ1	UTSW	8	13,929,392 (GRCm39)	missense	probably damaging	1.00
R9464:Champ1	UTSW	8	13,929,114 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGAGGAAACCAGCGCTAAG -3'
(R):5'- GTGACTCTGGACACAAGCTC -3'

Sequencing Primer
(F):5'- CGCTAAGCCTGGAGTGTG -3'
(R):5'- TGCTTCCATGGGGAGGGC -3'

Posted On

2015-10-21