Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02407:Zcchc17'

292129

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: 0.788) question?

Stock #

IGL02407

Quality Score

Status

Chromosome

Chromosomal Location

130209176-130253736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 130243108 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 25 (M25T)

Ref Sequence

ENSEMBL: ENSMUSP00000120807 (fasta)

Gene Model

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

AlphaFold

Q9ESX4

Predicted Effect

probably benign
Transcript: ENSMUST00000134159
AA Change: M25T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: M25T

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000167964

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: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	G	A	6: 121,645,575 (GRCm39)	W1040*	probably null	Het
Adgrv1	C	A	13: 81,627,789 (GRCm39)	A3691S	probably damaging	Het
Als2cl	T	A	9: 110,718,295 (GRCm39)	Y345*	probably null	Het
Aplp2	A	T	9: 31,069,823 (GRCm39)	Y496*	probably null	Het
Ash1l	T	C	3: 88,979,855 (GRCm39)	V2793A	probably damaging	Het
Bfsp1	A	T	2: 143,668,853 (GRCm39)	D575E	probably benign	Het
Ceacam20	G	T	7: 19,704,332 (GRCm39)	V128F	probably benign	Het
Cers4	A	T	8: 4,570,306 (GRCm39)	K204*	probably null	Het
Cog1	T	C	11: 113,544,852 (GRCm39)	Y345H	probably benign	Het
Col14a1	T	C	15: 55,312,272 (GRCm39)		probably benign	Het
Col19a1	A	T	1: 24,351,453 (GRCm39)		probably null	Het
Ctnnd2	T	A	15: 30,966,914 (GRCm39)	M955K	probably damaging	Het
Cyp3a16	A	T	5: 145,388,652 (GRCm39)	M275K	probably damaging	Het
Degs2	T	G	12: 108,658,254 (GRCm39)	T242P	probably damaging	Het
Elac2	T	C	11: 64,890,001 (GRCm39)	V612A	probably benign	Het
Elovl6	T	A	3: 129,398,733 (GRCm39)	F45I	probably damaging	Het
Exoc1	A	C	5: 76,693,193 (GRCm39)	N360H	probably damaging	Het
Fam221b	A	T	4: 43,666,309 (GRCm39)	S101T	possibly damaging	Het
Garre1	A	T	7: 33,955,909 (GRCm39)	N393K	probably damaging	Het
Glyr1	A	G	16: 4,854,812 (GRCm39)	F89L	probably benign	Het
Herc4	C	A	10: 63,142,203 (GRCm39)	T668K	probably damaging	Het
Hibadh	C	T	6: 52,525,874 (GRCm39)	V259I	possibly damaging	Het
Hp1bp3	T	A	4: 137,967,983 (GRCm39)	D397E	probably damaging	Het
Ift80	G	T	3: 68,805,869 (GRCm39)	D724E	probably benign	Het
Igkv3-10	T	C	6: 70,550,223 (GRCm39)		probably benign	Het
Irf9	G	T	14: 55,842,678 (GRCm39)	A75S	possibly damaging	Het
Kif13a	C	T	13: 46,938,769 (GRCm39)	V76M	probably damaging	Het
Krt4	T	C	15: 101,829,740 (GRCm39)	I263V	probably benign	Het
Lgals8	A	G	13: 12,469,699 (GRCm39)	W87R	probably benign	Het
Mccc2	G	A	13: 100,127,816 (GRCm39)	P96L	probably damaging	Het
Megf11	A	C	9: 64,587,531 (GRCm39)	D443A	probably damaging	Het
Nckap5l	T	C	15: 99,321,008 (GRCm39)		probably benign	Het
Ndor1	A	G	2: 25,139,281 (GRCm39)	V230A	probably benign	Het
Nif3l1	G	T	1: 58,496,956 (GRCm39)	V294L	possibly damaging	Het
Or4k39	T	A	2: 111,238,923 (GRCm39)		noncoding transcript	Het
Pcdhb13	T	A	18: 37,576,128 (GRCm39)	Y169N	probably damaging	Het
Peg3	A	G	7: 6,710,635 (GRCm39)	I1529T	probably damaging	Het
Piezo2	T	A	18: 63,279,915 (GRCm39)	I219F	probably damaging	Het
Prpf38a	G	A	4: 108,424,836 (GRCm39)	R242W	unknown	Het
Prrc2a	A	T	17: 35,379,480 (GRCm39)	D255E	unknown	Het
Rapgef6	G	T	11: 54,567,181 (GRCm39)	D1121Y	possibly damaging	Het
Ryr3	T	A	2: 112,585,303 (GRCm39)	H2761L	probably damaging	Het
Sel1l	A	T	12: 91,810,042 (GRCm39)		probably benign	Het
Slc30a9	A	G	5: 67,510,065 (GRCm39)	D539G	probably damaging	Het
Slc38a9	A	G	13: 112,826,777 (GRCm39)	S172G	probably benign	Het
Slfn2	C	A	11: 82,960,402 (GRCm39)	T127K	probably benign	Het
Smurf1	A	T	5: 144,821,534 (GRCm39)	M496K	probably damaging	Het
Srgap2	A	T	1: 131,247,340 (GRCm39)	V564D	probably damaging	Het
Stk32a	T	C	18: 43,430,576 (GRCm39)	I162T	probably benign	Het
Tchhl1	A	T	3: 93,378,634 (GRCm39)	N446I	possibly damaging	Het
Tmem64	T	A	4: 15,266,584 (GRCm39)	H211Q	probably damaging	Het
Trim3	T	C	7: 105,262,218 (GRCm39)	N586S	probably benign	Het
Trpm1	A	G	7: 63,868,869 (GRCm39)	E507G	probably damaging	Het
Tyk2	G	T	9: 21,020,523 (GRCm39)		probably benign	Het
Ugt3a1	A	T	15: 9,365,316 (GRCm39)	K310*	probably null	Het
Unc13a	T	A	8: 72,101,586 (GRCm39)	N1022Y	probably damaging	Het
Vmn1r172	A	T	7: 23,359,228 (GRCm39)	N38Y	probably damaging	Het
Vmn2r100	A	T	17: 19,741,770 (GRCm39)	I161F	probably damaging	Het
Zfp563	G	A	17: 33,323,795 (GRCm39)	R130Q	probably benign	Het
Zhx2	A	G	15: 57,686,802 (GRCm39)	S724G	probably benign	Het

Other mutations in Zcchc17

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01462:Zcchc17	APN	4	130,230,902 (GRCm39)	missense	probably benign	0.01
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
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

2015-04-16