Mutagenetix > Incidental Mutation

Incidental Mutation 'R8518:Chchd1'

656266

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

067850-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8518 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

20753095-20754493 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 20754211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 89 (I89T)

Ref Sequence

ENSEMBL: ENSMUSP00000071202 (fasta)

Gene Model

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

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: I89T

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000071202
Gene: ENSMUSG00000063787
AA Change: I89T

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

Predicted Effect

probably benign
Transcript: ENSMUST00000223840

Predicted Effect

probably benign
Transcript: ENSMUST00000224633
AA Change: I41T

PolyPhen 2 Score 0.229 (Sensitivity: 0.91; Specificity: 0.88)

Predicted Effect

probably benign
Transcript: ENSMUST00000224751

Predicted Effect

probably benign
Transcript: ENSMUST00000226072

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,223,398 (GRCm39)	V170A	possibly damaging	Het
Adamts2	A	G	11: 50,666,957 (GRCm39)	E418G	probably damaging	Het
Adra2b	T	C	2: 127,206,056 (GRCm39)	L191P	probably damaging	Het
Ampd2	C	A	3: 107,987,432 (GRCm39)	V134L	probably benign	Het
Bag2	T	C	1: 33,787,358 (GRCm39)	I55V	probably benign	Het
Bltp2	T	C	11: 78,156,064 (GRCm39)	L192P	possibly damaging	Het
Bmpr1b	T	C	3: 141,563,343 (GRCm39)	I200M	possibly damaging	Het
Cacna1i	C	A	15: 80,243,095 (GRCm39)	Y417*	probably null	Het
Cdc7	T	A	5: 107,120,864 (GRCm39)	I162N	probably damaging	Het
Cxcl16	T	C	11: 70,346,510 (GRCm39)	N224S	probably benign	Het
Dync1i1	T	G	6: 5,913,330 (GRCm39)	L188V	probably damaging	Het
Dync2h1	A	G	9: 7,051,452 (GRCm39)	V3161A	probably benign	Het
E2f3	T	A	13: 30,097,453 (GRCm39)	K303N	probably damaging	Het
Fermt1	T	C	2: 132,748,635 (GRCm39)	T663A	probably benign	Het
Fhod3	A	G	18: 25,189,390 (GRCm39)	R611G	probably damaging	Het
Frem3	A	T	8: 81,339,224 (GRCm39)	S506C	probably damaging	Het
Gm10318	T	A	10: 77,688,712 (GRCm39)	M6K	unknown	Het
Gm6563	T	A	19: 23,653,480 (GRCm39)	V90E	probably damaging	Het
Gpc6	T	C	14: 117,163,384 (GRCm39)	S13P	probably benign	Het
Gpr107	C	A	2: 31,066,939 (GRCm39)	H196Q	probably benign	Het
Heatr1	T	G	13: 12,425,415 (GRCm39)	D618E	probably benign	Het
Lrrc27	T	C	7: 138,808,690 (GRCm39)	V391A	probably benign	Het
Mindy3	T	G	2: 12,360,154 (GRCm39)	K349N	probably damaging	Het
Mllt10	T	C	2: 18,151,670 (GRCm39)	V261A	probably damaging	Het
Mrpl48	G	A	7: 100,232,269 (GRCm39)		probably benign	Het
Msantd5f5	T	A	4: 73,542,641 (GRCm39)	L47Q	probably damaging	Het
Muc16	T	C	9: 18,430,927 (GRCm39)	I8062V	probably benign	Het
Myo7a	T	C	7: 97,740,270 (GRCm39)	N575D	possibly damaging	Het
Nfrkb	T	C	9: 31,311,261 (GRCm39)	L370P	probably damaging	Het
Numbl	T	C	7: 26,964,361 (GRCm39)	V57A	probably benign	Het
Or51t4	T	C	7: 102,597,804 (GRCm39)	V44A	probably damaging	Het
Or5b12	G	A	19: 12,896,959 (GRCm39)	T238I	probably damaging	Het
Or6y1	T	A	1: 174,276,742 (GRCm39)	C184*	probably null	Het
Pdia2	A	T	17: 26,417,144 (GRCm39)	L100*	probably null	Het
Prpf31	A	T	7: 3,635,742 (GRCm39)	N105I	probably damaging	Het
Rbm20	A	G	19: 53,839,923 (GRCm39)	N971D	probably benign	Het
Rnf213	T	A	11: 119,353,043 (GRCm39)	M3980K		Het
Skint6	A	G	4: 113,095,465 (GRCm39)	F65L	possibly damaging	Het
Smpd4	T	A	16: 17,458,884 (GRCm39)	C536S	possibly damaging	Het
Tcof1	G	C	18: 60,962,123 (GRCm39)	A702G	possibly damaging	Het
Tfpt	A	G	7: 3,632,065 (GRCm39)	F15S	possibly damaging	Het
Tnp2	A	G	16: 10,606,372 (GRCm39)	C32R	possibly damaging	Het
Tns3	A	T	11: 8,442,971 (GRCm39)	V464E	probably damaging	Het
Tpp2	T	A	1: 44,019,545 (GRCm39)	L824H	probably damaging	Het
Trav15-1-dv6-1	A	G	14: 53,797,666 (GRCm39)	D105G	probably benign	Het
Ttc3	T	C	16: 94,258,238 (GRCm39)	S1679P	probably benign	Het
Xpo7	A	G	14: 70,944,837 (GRCm39)	Y19H	probably damaging	Het
Zswim4	G	A	8: 84,938,586 (GRCm39)	R1099W	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
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
R8946:Chchd1	UTSW	14	20,753,385 (GRCm39)	makesense	probably null

Predicted Primers

PCR Primer
(F):5'- TGAAAATGCAGGGACACATCTG -3'
(R):5'- AAACTCGTAGCAATGCAAATGC -3'

Sequencing Primer
(F):5'- CCTGAGGTAAACGTCTGGAATTTTCC -3'
(R):5'- GCAAACCGCAAACCTCCC -3'

Posted On

2020-10-20