Mutagenetix > Incidental Mutation

Incidental Mutation 'R3831:Zcchc17'

273986

Institutional Source

Beutler Lab

Gene Symbol

Zcchc17

Ensembl Gene

ENSMUSG00000028772

Gene Name

zinc finger, CCHC domain containing 17

Synonyms

Ps1d, 2810055E05Rik, HSPC251

MMRRC Submission

040777-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.788) question?

Stock #

R3831 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

130209176-130253736 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 130232317 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 62 (D62G)

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: D62G

PolyPhen 2 Score 0.036 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000120807
Gene: ENSMUSG00000028772
AA Change: D62G

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

Meta Mutation Damage Score

0.0904

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.7%
20x: 96.2%

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930563M21Rik	T	C	9: 55,880,992 (GRCm39)	T527A	unknown	Het
Bcat1	T	A	6: 144,955,834 (GRCm39)	D349V	probably damaging	Het
Cacna1c	A	G	6: 118,581,424 (GRCm39)	S1727P	probably benign	Het
Cacnb2	A	T	2: 14,986,236 (GRCm39)	I338F	probably damaging	Het
Cemip2	T	G	19: 21,825,315 (GRCm39)	S1204R	probably damaging	Het
Cibar2	T	A	8: 120,901,633 (GRCm39)	Y24F	probably damaging	Het
Cyb5d2	G	T	11: 72,686,349 (GRCm39)	S80R	possibly damaging	Het
Cyfip2	T	C	11: 46,152,333 (GRCm39)	D485G	probably benign	Het
Cyp27b1	G	T	10: 126,886,929 (GRCm39)	V382L	probably damaging	Het
Dpp9	A	T	17: 56,506,113 (GRCm39)	F429I	possibly damaging	Het
Frmd4b	T	A	6: 97,389,486 (GRCm39)	K73*	probably null	Het
Hao1	A	T	2: 134,364,925 (GRCm39)	V234D	probably damaging	Het
Hkdc1	T	C	10: 62,235,991 (GRCm39)	Y517C	probably benign	Het
Iglv2	A	T	16: 19,079,593 (GRCm39)	M1K	probably null	Het
Inpp5j	T	C	11: 3,450,229 (GRCm39)	D228G	probably damaging	Het
Itih5	A	G	2: 10,256,081 (GRCm39)	D849G	possibly damaging	Het
Itpkb	T	C	1: 180,161,260 (GRCm39)	V462A	probably benign	Het
Kif26b	GAAA	GAA	1: 178,744,181 (GRCm39)		probably null	Het
Kremen1	G	GGGC	11: 5,151,794 (GRCm39)		probably benign	Het
Lzic	G	C	4: 149,573,185 (GRCm39)	E112D	probably null	Het
Mageh1	A	T	X: 151,820,004 (GRCm39)	W111R	probably damaging	Het
Mapk7	A	G	11: 61,380,680 (GRCm39)	S641P	possibly damaging	Het
Mapt	A	T	11: 104,177,961 (GRCm39)	Q38L	possibly damaging	Het
Med12	C	A	X: 100,339,498 (GRCm39)	P2037Q	possibly damaging	Het
Med22	A	G	2: 26,800,379 (GRCm39)	S17P	probably damaging	Het
Melk	C	A	4: 44,345,021 (GRCm39)	Q384K	probably benign	Het
Morc2b	C	T	17: 33,356,233 (GRCm39)	S513N	probably benign	Het
Nap1l3	A	G	X: 121,305,995 (GRCm39)	V241A	possibly damaging	Het
Or2t45	T	A	11: 58,669,571 (GRCm39)		probably null	Het
Or56a4	A	G	7: 104,806,589 (GRCm39)	F100S	probably damaging	Het
Or9e1	T	G	11: 58,732,686 (GRCm39)	F249V	probably damaging	Het
Pdgfd	T	C	9: 6,359,762 (GRCm39)	S278P	probably damaging	Het
Pgc	C	A	17: 48,040,236 (GRCm39)	F93L	probably null	Het
Phf14	A	G	6: 11,933,873 (GRCm39)		probably null	Het
Pja2	T	C	17: 64,616,397 (GRCm39)	D166G	probably benign	Het
Rgs5	A	G	1: 169,504,470 (GRCm39)	Y40C	probably benign	Het
Rsad1	A	G	11: 94,434,130 (GRCm39)	V366A	probably benign	Het
S100a10	T	C	3: 93,471,680 (GRCm39)	V88A	probably damaging	Het
Scarf1	T	C	11: 75,406,078 (GRCm39)	C121R	probably damaging	Het
Scn7a	A	G	2: 66,528,028 (GRCm39)	S821P	probably damaging	Het
Sco1	T	C	11: 66,944,605 (GRCm39)	V76A	probably damaging	Het
Selp	T	A	1: 163,959,849 (GRCm39)	C368*	probably null	Het
Sema3e	T	A	5: 14,276,496 (GRCm39)	C294S	probably damaging	Het
Slit3	A	T	11: 35,579,509 (GRCm39)	S1229C	probably null	Het
Smarca5	A	T	8: 81,455,123 (GRCm39)	N199K	probably damaging	Het
Sorbs2	A	T	8: 46,248,132 (GRCm39)	D442V	probably damaging	Het
Specc1	T	A	11: 62,008,793 (GRCm39)	I183N	probably damaging	Het
Tcerg1	G	T	18: 42,701,554 (GRCm39)	R872L	probably damaging	Het
Tekt1	T	C	11: 72,245,645 (GRCm39)	N170S	probably benign	Het
Thsd1	T	G	8: 22,733,132 (GRCm39)	S60A	possibly damaging	Het
Usp24	T	C	4: 106,219,209 (GRCm39)		probably null	Het
Usp28	A	G	9: 48,946,938 (GRCm39)	T505A	probably benign	Het
Zfp445	T	G	9: 122,681,541 (GRCm39)	E800A	probably damaging	Het
Zranb1	C	T	7: 132,584,505 (GRCm39)	A591V	probably damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- GAGGAGAGTCCCATGAACAC -3'
(R):5'- TGACTGGGTTAAAGGCTGATC -3'

Sequencing Primer
(F):5'- GAAGATTCAAACTCAAGACAGATGAC -3'
(R):5'- CTGGGTTAAAGGCTGATCTTAAATTG -3'

Posted On

2015-04-02