Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01462:Zcchc17'

88001

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zcchc17

Ensembl Gene

ENSMUSG00000028772

Gene Name

zinc finger, CCHC domain containing 17

Synonyms

Ps1d, 2810055E05Rik, HSPC251

Accession Numbers

Essential gene?

Probably essential (E-score: 0.793) question?

Stock #

IGL01462

Quality Score

Status

Chromosome

Chromosomal Location

130209176-130253736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130230902 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 96 (K96E)

Ref Sequence

ENSEMBL: ENSMUSP00000120807 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000134159]

AlphaFold

Q9ESX4

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129840

Predicted Effect

probably benign
Transcript: ENSMUST00000134159
AA Change: K96E

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: K96E

Domain	Start	End	E-Value	Type
S1	14	86	4.47e-11	SMART
ZnF_C2HC	132	148	4.56e-1	SMART
low complexity region	160	171	N/A	INTRINSIC
low complexity region	182	211	N/A	INTRINSIC
low complexity region	227	240	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149755

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Specific KO of the short isoform reduces osteogenic differentiation of mesenchymal stem cells and results in early cellular senescence in the embryonic notochord and forelimb bones. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 38 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts9	C	A	6: 92,871,247 (GRCm39)	A30S	probably benign	Het
Aspg	A	G	12: 112,089,387 (GRCm39)	T392A	probably benign	Het
Atp8b5	C	A	4: 43,368,010 (GRCm39)	Q878K	possibly damaging	Het
Ccdc85a	G	T	11: 28,526,506 (GRCm39)	H339Q	probably damaging	Het
Clca3a1	C	T	3: 144,713,539 (GRCm39)	M697I	probably benign	Het
Cog4	C	T	8: 111,592,717 (GRCm39)	T430M	probably benign	Het
Col6a5	A	G	9: 105,823,274 (GRCm39)	Y28H	unknown	Het
Cth	A	T	3: 157,610,804 (GRCm39)	Y343N	probably damaging	Het
Dctn3	A	T	4: 41,719,854 (GRCm39)	L84*	probably null	Het
Epha5	A	T	5: 84,219,092 (GRCm39)	I868N	probably damaging	Het
Ephb2	T	C	4: 136,498,681 (GRCm39)	N133D	possibly damaging	Het
Epor	G	A	9: 21,870,752 (GRCm39)	P376L	probably damaging	Het
Gsdme	A	G	6: 50,204,354 (GRCm39)	V201A	possibly damaging	Het
Hdgf	G	A	3: 87,821,831 (GRCm39)	E149K	possibly damaging	Het
Lrrfip2	T	C	9: 111,034,917 (GRCm39)		probably null	Het
Ly6g6d	T	C	17: 35,293,226 (GRCm39)	I40V	probably benign	Het
Mlh3	G	A	12: 85,313,510 (GRCm39)	T892I	probably benign	Het
Mmp19	C	T	10: 128,634,011 (GRCm39)	T304I	probably damaging	Het
Mmp28	T	C	11: 83,334,602 (GRCm39)	D384G	possibly damaging	Het
Moxd1	T	C	10: 24,120,286 (GRCm39)		probably null	Het
Mtcl3	T	G	10: 29,024,254 (GRCm39)	L390R	probably damaging	Het
Ncapg	T	C	5: 45,828,477 (GRCm39)	V76A	probably benign	Het
Nos1	C	T	5: 118,005,774 (GRCm39)	R165C	probably benign	Het
Or1e1c	T	C	11: 73,265,578 (GRCm39)	M1T	probably null	Het
Or2a57	A	G	6: 43,212,559 (GRCm39)	T6A	possibly damaging	Het
Pik3c2a	T	A	7: 115,975,485 (GRCm39)	H694L	possibly damaging	Het
Psme2	A	G	14: 55,827,128 (GRCm39)	L60P	probably damaging	Het
Ptpn23	A	G	9: 110,237,175 (GRCm39)	V4A	probably benign	Het
Rgr	G	T	14: 36,766,566 (GRCm39)	T160K	probably damaging	Het
Serpind1	A	G	16: 17,154,787 (GRCm39)	I205V	probably benign	Het
Skap2	T	C	6: 51,898,280 (GRCm39)	Y150C	probably damaging	Het
Srsf9	T	C	5: 115,470,187 (GRCm39)	S122P	probably damaging	Het
Stox1	T	G	10: 62,500,461 (GRCm39)	I700L	probably benign	Het
Tada1	A	G	1: 166,216,294 (GRCm39)	D165G	probably damaging	Het
Traf5	A	G	1: 191,731,828 (GRCm39)	S338P	probably benign	Het
Trim39	G	A	17: 36,574,617 (GRCm39)		probably benign	Het
Wbp2	G	A	11: 115,972,066 (GRCm39)	A130V	possibly damaging	Het
Zfp800	G	A	6: 28,242,983 (GRCm39)	L661F	possibly damaging	Het

Other mutations in Zcchc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02086:Zcchc17	APN	4	130,210,440 (GRCm39)	makesense	probably null
IGL02277:Zcchc17	APN	4	130,221,014 (GRCm39)	missense	probably benign	0.15
IGL02395:Zcchc17	APN	4	130,230,920 (GRCm39)	missense	probably damaging	1.00
IGL02407:Zcchc17	APN	4	130,243,108 (GRCm39)	missense	probably benign
R0105:Zcchc17	UTSW	4	130,243,099 (GRCm39)	missense	probably benign	0.36
R0105:Zcchc17	UTSW	4	130,243,099 (GRCm39)	missense	probably benign	0.36
R0245:Zcchc17	UTSW	4	130,230,947 (GRCm39)	missense	probably benign
R1026:Zcchc17	UTSW	4	130,223,403 (GRCm39)	missense	possibly damaging	0.95
R1764:Zcchc17	UTSW	4	130,223,388 (GRCm39)	missense	probably damaging	0.97
R2162:Zcchc17	UTSW	4	130,232,317 (GRCm39)	missense	probably benign	0.04
R2389:Zcchc17	UTSW	4	130,220,997 (GRCm39)	nonsense	probably null
R3831:Zcchc17	UTSW	4	130,232,317 (GRCm39)	missense	probably benign	0.04
R4078:Zcchc17	UTSW	4	130,223,418 (GRCm39)	missense	possibly damaging	0.65
R5553:Zcchc17	UTSW	4	130,247,927 (GRCm39)	critical splice donor site	probably null
R7233:Zcchc17	UTSW	4	130,221,116 (GRCm39)	missense	probably damaging	0.98
R7728:Zcchc17	UTSW	4	130,230,812 (GRCm39)	splice site	probably null
R8384:Zcchc17	UTSW	4	130,210,526 (GRCm39)	missense	possibly damaging	0.91
R9227:Zcchc17	UTSW	4	130,230,928 (GRCm39)	missense	probably damaging	1.00
R9343:Zcchc17	UTSW	4	130,210,546 (GRCm39)	missense	probably damaging	0.99
R9514:Zcchc17	UTSW	4	130,232,337 (GRCm39)	missense	probably benign

Posted On

2013-11-18