Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01610:Chchd1'

92004

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Chchd1

Ensembl Gene

ENSMUSG00000063787

Gene Name

coiled-coil-helix-coiled-coil-helix domain containing 1

Synonyms

2400010G13Rik, 1110001O19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01610

Quality Score

Status

Chromosome

Chromosomal Location

20753095-20754493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20753245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 35 (N35S)

Ref Sequence

ENSEMBL: ENSMUSP00000071202 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000048016] [ENSMUST00000071215] [ENSMUST00000223840] [ENSMUST00000226072] [ENSMUST00000224633] [ENSMUST00000224751]

AlphaFold

Q9CQA6

Predicted Effect

probably benign
Transcript: ENSMUST00000022358

SMART Domains

Protein: ENSMUSP00000022358
Gene: ENSMUSG00000021819

Domain	Start	End	E-Value	Type
low complexity region	50	66	N/A	INTRINSIC
low complexity region	89	102	N/A	INTRINSIC
low complexity region	390	405	N/A	INTRINSIC
low complexity region	578	612	N/A	INTRINSIC
low complexity region	736	751	N/A	INTRINSIC
low complexity region	1000	1015	N/A	INTRINSIC
low complexity region	1120	1135	N/A	INTRINSIC
low complexity region	1176	1211	N/A	INTRINSIC
low complexity region	1259	1270	N/A	INTRINSIC
low complexity region	1343	1355	N/A	INTRINSIC
low complexity region	1470	1487	N/A	INTRINSIC
low complexity region	1491	1511	N/A	INTRINSIC
low complexity region	1527	1542	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000048016

SMART Domains

Protein: ENSMUSP00000040370
Gene: ENSMUSG00000039357

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
Pfam:Glyco_tran_10_N	70	178	2.6e-12	PFAM
Pfam:Glyco_transf_10	204	403	2.3e-37	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071215
AA Change: N35S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000071202
Gene: ENSMUSG00000063787
AA Change: N35S

Domain	Start	End	E-Value	Type
Pfam:CHCH	45	79	2.1e-11	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175013

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180987

Predicted Effect

probably benign
Transcript: ENSMUST00000223840

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224132

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225527

Predicted Effect

unknown
Transcript: ENSMUST00000226072
AA Change: N35S

Predicted Effect

probably benign
Transcript: ENSMUST00000224633

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224165

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224976

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225804

Predicted Effect

probably benign
Transcript: ENSMUST00000224751

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700018A14Rik	T	C	18: 46,332,633 (GRCm39)		probably benign	Het
4921524J17Rik	T	C	8: 86,138,871 (GRCm39)	I73V	probably benign	Het
4930562C15Rik	T	A	16: 4,669,429 (GRCm39)		probably benign	Het
Abca15	T	A	7: 119,939,867 (GRCm39)	V323D	probably damaging	Het
Acot10	T	C	15: 20,665,781 (GRCm39)	Y320C	probably damaging	Het
Acp6	T	A	3: 97,083,036 (GRCm39)	V349D	possibly damaging	Het
Adcy9	G	T	16: 4,235,978 (GRCm39)	Q478K	probably damaging	Het
Akap13	A	G	7: 75,369,928 (GRCm39)	I1843V	possibly damaging	Het
Akap13	A	T	7: 75,397,353 (GRCm39)	I2528F	probably damaging	Het
Akap9	G	A	5: 4,082,839 (GRCm39)	A1988T	possibly damaging	Het
Alox5	C	T	6: 116,390,508 (GRCm39)	V490M	probably damaging	Het
Aspm	C	T	1: 139,417,408 (GRCm39)	R1537*	probably null	Het
Bmf	G	A	2: 118,379,639 (GRCm39)	P46S	probably benign	Het
Brf1	T	A	12: 112,951,703 (GRCm39)	H92L	probably benign	Het
Cntnap3	C	T	13: 64,905,115 (GRCm39)	G889S	probably damaging	Het
Col6a4	T	C	9: 105,924,906 (GRCm39)		probably benign	Het
Crispld1	A	G	1: 17,816,949 (GRCm39)		probably null	Het
Ddx27	T	C	2: 166,863,964 (GRCm39)		probably benign	Het
Dennd1b	A	G	1: 139,097,504 (GRCm39)		probably benign	Het
Dennd4a	T	C	9: 64,814,166 (GRCm39)	V1461A	probably damaging	Het
Drc7	C	T	8: 95,804,430 (GRCm39)	R843W	probably damaging	Het
Dync2li1	A	G	17: 84,935,742 (GRCm39)	E13G	probably damaging	Het
Egf	A	G	3: 129,499,909 (GRCm39)		probably benign	Het
Hpse2	T	C	19: 43,373,228 (GRCm39)	S134G	probably benign	Het
Hydin	A	G	8: 111,284,345 (GRCm39)	T3206A	probably benign	Het
Ier5l	T	A	2: 30,363,966 (GRCm39)	S20C	probably damaging	Het
Il1r1	A	G	1: 40,341,560 (GRCm39)	E324G	probably benign	Het
Kdm4b	C	T	17: 56,660,522 (GRCm39)		probably benign	Het
Lztfl1	T	A	9: 123,529,156 (GRCm39)	E298D	probably benign	Het
Myo1b	A	T	1: 51,815,405 (GRCm39)	M647K	probably damaging	Het
Or13a25	C	T	7: 140,247,584 (GRCm39)	A128V	probably damaging	Het
Or52z14	A	T	7: 103,253,274 (GRCm39)	T138S	probably benign	Het
Or5j1	G	T	2: 86,878,632 (GRCm39)		probably benign	Het
Parvb	A	T	15: 84,187,666 (GRCm39)	K258M	probably damaging	Het
Pcdhb11	T	G	18: 37,556,412 (GRCm39)	S581A	probably benign	Het
Pcnx2	C	A	8: 126,566,372 (GRCm39)	A1024S	possibly damaging	Het
Pde4a	T	C	9: 21,122,646 (GRCm39)		probably benign	Het
Pgr	A	T	9: 8,903,692 (GRCm39)	H571L	possibly damaging	Het
Phf20	G	T	2: 156,144,809 (GRCm39)	E806*	probably null	Het
Pilra	T	A	5: 137,833,803 (GRCm39)	I85F	probably damaging	Het
Pla2g2f	C	T	4: 138,480,622 (GRCm39)	V125M	probably damaging	Het
Rb1cc1	A	G	1: 6,318,705 (GRCm39)	N708S	probably benign	Het
Resf1	C	T	6: 149,230,449 (GRCm39)	T1165M	probably benign	Het
Rnase4	A	T	14: 51,342,378 (GRCm39)	Y34F	probably damaging	Het
Ropn1	A	T	16: 34,487,141 (GRCm39)	I26F	probably damaging	Het
Rpl9-ps6	T	A	19: 32,443,699 (GRCm39)	T85S	probably benign	Het
Scaf8	C	T	17: 3,246,124 (GRCm39)	P738S	probably damaging	Het
Sec31a	A	T	5: 100,550,217 (GRCm39)		probably benign	Het
Sel1l	C	T	12: 91,784,064 (GRCm39)	V459I	probably damaging	Het
Senp7	A	T	16: 55,996,186 (GRCm39)	D755V	possibly damaging	Het
Serpinb9d	A	T	13: 33,381,985 (GRCm39)	K151N	probably benign	Het
Slc8a3	A	G	12: 81,362,576 (GRCm39)	F81S	probably damaging	Het
Spire2	T	A	8: 124,083,502 (GRCm39)	L162Q	probably damaging	Het
Syt17	A	G	7: 118,033,216 (GRCm39)	I264T	possibly damaging	Het
Tbl3	A	T	17: 24,923,018 (GRCm39)	V379D	probably damaging	Het
Tenm3	A	T	8: 48,707,512 (GRCm39)	L1762Q	probably damaging	Het
Trerf1	A	T	17: 47,630,501 (GRCm39)		noncoding transcript	Het
Ttc13	T	C	8: 125,403,083 (GRCm39)	D552G	probably damaging	Het
Tuba3a	G	T	6: 125,255,529 (GRCm39)	T382K	possibly damaging	Het
Vmn1r210	A	T	13: 23,011,977 (GRCm39)	V103E	probably damaging	Het
Vmn1r80	A	G	7: 11,927,307 (GRCm39)	H139R	possibly damaging	Het
Xpo7	A	T	14: 70,940,670 (GRCm39)	F141Y	probably damaging	Het
Zfp143	T	A	7: 109,673,333 (GRCm39)	Y143*	probably null	Het
Zfp207	T	A	11: 80,276,796 (GRCm39)	C26S	probably damaging	Het

Other mutations in Chchd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02234:Chchd1	APN	14	20,753,478 (GRCm39)	critical splice donor site	probably null
R0047:Chchd1	UTSW	14	20,754,231 (GRCm39)	missense	possibly damaging	0.73
R0047:Chchd1	UTSW	14	20,754,231 (GRCm39)	missense	possibly damaging	0.73
R1575:Chchd1	UTSW	14	20,753,410 (GRCm39)	missense	probably damaging	1.00
R2853:Chchd1	UTSW	14	20,754,288 (GRCm39)	missense	probably benign
R5665:Chchd1	UTSW	14	20,753,178 (GRCm39)	missense	probably benign
R6747:Chchd1	UTSW	14	20,753,448 (GRCm39)	missense	probably benign	0.00
R7023:Chchd1	UTSW	14	20,753,310 (GRCm39)	intron	probably benign
R8518:Chchd1	UTSW	14	20,754,211 (GRCm39)	missense	probably benign	0.23
R8946:Chchd1	UTSW	14	20,753,385 (GRCm39)	makesense	probably null

Posted On

2013-12-09