Mutagenetix > Incidental Mutation

Incidental Mutation 'R0047:Chchd1'

15891

Institutional Source

Beutler Lab

Gene Symbol

Chchd1

Ensembl Gene

ENSMUSG00000063787

Gene Name

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

Synonyms

2400010G13Rik, 1110001O19Rik

MMRRC Submission

038341-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0047 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

20753095-20754493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20754231 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 48 (S48P)

Ref Sequence

ENSEMBL: ENSMUSP00000152969 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022358] [ENSMUST00000048016] [ENSMUST00000071215] [ENSMUST00000223840] [ENSMUST00000224633] [ENSMUST00000226072] [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: S96P

PolyPhen 2 Score 0.403 (Sensitivity: 0.89; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000071202
Gene: ENSMUSG00000063787
AA Change: S96P

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

possibly damaging
Transcript: ENSMUST00000224633
AA Change: S48P

PolyPhen 2 Score 0.725 (Sensitivity: 0.86; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000226072

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224165

Predicted Effect

probably benign
Transcript: ENSMUST00000224751

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225527

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225804

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224976

Meta Mutation Damage Score

0.2331

Coding Region Coverage

1x: 89.2%
3x: 86.3%
10x: 78.8%
20x: 65.9%

Validation Efficiency

95% (110/116)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	G	3: 137,772,025 (GRCm39)	T405A	probably damaging	Het
Acer1	A	T	17: 57,262,624 (GRCm39)	D175E	possibly damaging	Het
Adamts9	G	A	6: 92,882,287 (GRCm39)		probably benign	Het
Amigo3	T	C	9: 107,931,857 (GRCm39)	S427P	probably benign	Het
Arid4a	T	G	12: 71,122,193 (GRCm39)	L858W	probably damaging	Het
Bbox1	A	G	2: 110,098,647 (GRCm39)	F310S	probably damaging	Het
Bltp1	T	A	3: 36,962,341 (GRCm39)	L481M	possibly damaging	Het
Bmper	T	A	9: 23,317,982 (GRCm39)	C534S	probably damaging	Het
Cacna1d	T	G	14: 30,068,747 (GRCm39)		probably benign	Het
Capn12	G	A	7: 28,589,812 (GRCm39)		probably null	Het
Cnot7	A	G	8: 40,948,962 (GRCm39)		probably benign	Het
Cux1	T	C	5: 136,392,107 (GRCm39)		probably benign	Het
Cyp2b19	T	A	7: 26,466,251 (GRCm39)	D351E	probably benign	Het
Dctn1	G	T	6: 83,159,614 (GRCm39)	G31*	probably null	Het
Duox1	T	A	2: 122,177,122 (GRCm39)		probably benign	Het
Egflam	T	G	15: 7,282,911 (GRCm39)	E382A	possibly damaging	Het
Ext1	T	C	15: 53,208,542 (GRCm39)	N73S	probably benign	Het
Glg1	A	T	8: 111,892,214 (GRCm39)	M866K	probably damaging	Het
Gm3333	A	G	13: 62,422,285 (GRCm39)		noncoding transcript	Het
Golm1	T	A	13: 59,792,914 (GRCm39)	H197L	probably benign	Het
Gtse1	A	G	15: 85,746,579 (GRCm39)	K132E	probably damaging	Het
Gxylt2	A	T	6: 100,710,339 (GRCm39)		probably benign	Het
Hrc	T	A	7: 44,986,113 (GRCm39)	S421R	probably benign	Het
Ighg2c	T	A	12: 113,251,788 (GRCm39)		probably benign	Het
Ihh	A	G	1: 74,985,750 (GRCm39)	I245T	probably benign	Het
Ilf3	T	A	9: 21,300,010 (GRCm39)	M65K	possibly damaging	Het
Kif9	A	G	9: 110,314,106 (GRCm39)	I33V	probably benign	Het
Lama1	A	T	17: 68,102,181 (GRCm39)		probably benign	Het
Lamb1	T	C	12: 31,328,600 (GRCm39)	I188T	possibly damaging	Het
Lpp	T	A	16: 24,480,550 (GRCm39)		probably benign	Het
Mark2	A	C	19: 7,260,942 (GRCm39)		probably benign	Het
Mmp3	T	C	9: 7,451,910 (GRCm39)		probably benign	Het
Mthfd1l	T	A	10: 3,928,727 (GRCm39)		probably benign	Het
Mtr	A	T	13: 12,237,112 (GRCm39)	S569T	probably damaging	Het
Myh13	T	A	11: 67,258,063 (GRCm39)	S1752T	probably benign	Het
Myo5a	T	A	9: 75,063,489 (GRCm39)	L565H	probably damaging	Het
Numa1	A	G	7: 101,658,660 (GRCm39)	K296E	probably damaging	Het
Obi1	T	A	14: 104,740,780 (GRCm39)		probably null	Het
Or51ab3	A	T	7: 103,201,529 (GRCm39)	Y179F	probably damaging	Het
Or5ac19	C	T	16: 59,089,574 (GRCm39)	G152D	probably damaging	Het
Or5b120	A	G	19: 13,479,953 (GRCm39)	E82G	probably benign	Het
Pla2g2c	T	C	4: 138,470,901 (GRCm39)		probably benign	Het
Pnpla7	A	T	2: 24,901,618 (GRCm39)	E548V	probably damaging	Het
Ppm1m	C	A	9: 106,073,895 (GRCm39)	E273*	probably null	Het
Ppp2r1b	C	T	9: 50,772,873 (GRCm39)	R117*	probably null	Het
Psg-ps1	A	G	7: 17,411,806 (GRCm39)		noncoding transcript	Het
Rabgap1l	G	A	1: 160,059,359 (GRCm39)		probably benign	Het
Rapgef6	T	A	11: 54,437,204 (GRCm39)	M49K	possibly damaging	Het
Rtel1	T	G	2: 180,965,198 (GRCm39)	I146M	probably damaging	Het
Sdr9c7	A	T	10: 127,739,541 (GRCm39)	M219L	probably benign	Het
Serpinb1a	A	T	13: 33,034,259 (GRCm39)	L44Q	probably damaging	Het
Slc13a4	A	G	6: 35,264,297 (GRCm39)	I190T	possibly damaging	Het
Slc46a2	A	G	4: 59,914,392 (GRCm39)	L177P	probably damaging	Het
Slc47a2	C	T	11: 61,227,068 (GRCm39)	V167M	possibly damaging	Het
Snrnp200	C	T	2: 127,076,874 (GRCm39)		probably benign	Het
Snx13	C	A	12: 35,151,123 (GRCm39)		probably benign	Het
Snx25	C	T	8: 46,494,402 (GRCm39)	A828T	probably damaging	Het
Spic	A	G	10: 88,511,803 (GRCm39)	L151P	probably damaging	Het
Sptb	G	T	12: 76,669,724 (GRCm39)	Q535K	probably damaging	Het
Ssu2	G	A	6: 112,351,781 (GRCm39)	H315Y	probably damaging	Het
Stk32a	T	C	18: 43,446,443 (GRCm39)		probably benign	Het
Tcaf2	A	G	6: 42,606,547 (GRCm39)	I469T	probably benign	Het
Tln2	A	G	9: 67,147,954 (GRCm39)		probably benign	Het
Top2a	T	A	11: 98,888,682 (GRCm39)	I1260L	probably benign	Het
Treml1	C	A	17: 48,672,008 (GRCm39)	S91*	probably null	Het
Trmt11	T	C	10: 30,411,239 (GRCm39)	N418S	probably benign	Het
Ttf1	A	G	2: 28,974,667 (GRCm39)	Y801C	probably damaging	Het
Usp34	C	T	11: 23,414,403 (GRCm39)	A2782V	probably benign	Het
Vps4a	T	C	8: 107,763,333 (GRCm39)	L29P	probably damaging	Het
Wdfy3	A	G	5: 102,091,899 (GRCm39)	I480T	probably damaging	Het
Ywhag	A	T	5: 135,940,153 (GRCm39)	V147E	probably damaging	Het

Other mutations in Chchd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01610:Chchd1	APN	14	20,753,245 (GRCm39)	missense	probably benign	0.01
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
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

2013-01-08