Mutagenetix > Incidental Mutation

Incidental Mutation 'R7889:Zcchc14'

609216

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

045941-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7889 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 122331634 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 576 (H576Q)

Ref Sequence

ENSEMBL: ENSMUSP00000040360 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046386] [ENSMUST00000127664]

AlphaFold

Q8VIG0

Predicted Effect

unknown
Transcript: ENSMUST00000046386
AA Change: H576Q

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: H576Q

Domain	Start	End	E-Value	Type
low complexity region	30	41	N/A	INTRINSIC
low complexity region	129	145	N/A	INTRINSIC
low complexity region	206	225	N/A	INTRINSIC
low complexity region	246	265	N/A	INTRINSIC
Blast:SAM	299	349	2e-25	BLAST
SCOP:d1kw4a_	307	358	1e-6	SMART
low complexity region	422	432	N/A	INTRINSIC
low complexity region	438	454	N/A	INTRINSIC
low complexity region	532	543	N/A	INTRINSIC
low complexity region	709	790	N/A	INTRINSIC
low complexity region	791	808	N/A	INTRINSIC
ZnF_C2HC	914	930	3.44e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000127664

SMART Domains

Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

Domain	Start	End	E-Value	Type
Pfam:Glycos_transf_2	104	287	7.4e-31	PFAM
Pfam:Glyco_transf_7C	261	331	4.9e-8	PFAM
RICIN	406	531	9.28e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000154725

SMART Domains

Protein: ENSMUSP00000120570
Gene: ENSMUSG00000061410

Domain	Start	End	E-Value	Type
low complexity region	7	88	N/A	INTRINSIC
low complexity region	89	106	N/A	INTRINSIC
ZnF_C2HC	212	228	3.44e-4	SMART

Coding Region Coverage

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

Validation Efficiency

100% (61/61)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg2a	A	G	3: 37,632,959 (GRCm39)	D855G	probably benign	Het
Angptl3	C	T	4: 98,919,308 (GRCm39)	L23F	probably benign	Het
Art2a	C	T	7: 101,204,418 (GRCm39)	S40N	not run	Het
Ash1l	A	G	3: 88,873,345 (GRCm39)	T43A	probably benign	Het
Atp1a2	G	A	1: 172,105,631 (GRCm39)		probably null	Het
Azi2	A	G	9: 117,890,983 (GRCm39)	E336G	probably benign	Het
Cap2	A	G	13: 46,800,051 (GRCm39)	H419R	probably damaging	Het
Ccdc14	T	A	16: 34,544,206 (GRCm39)	S903T	probably damaging	Het
Cep72	A	T	13: 74,198,241 (GRCm39)	S380T	possibly damaging	Het
Clca3a2	C	A	3: 144,516,574 (GRCm39)	E341*	probably null	Het
Clcnkb	T	G	4: 141,137,915 (GRCm39)	I294L	probably benign	Het
Csnk2a1-ps3	G	A	1: 156,352,965 (GRCm39)	A389T	probably benign	Het
Cyp2d9	T	A	15: 82,340,027 (GRCm39)	M350K	probably damaging	Het
Dhx40	T	G	11: 86,689,793 (GRCm39)	I266L	probably benign	Het
Dnah5	G	T	15: 28,448,560 (GRCm39)	E4208*	probably null	Het
Dync2i1	T	A	12: 116,219,559 (GRCm39)	K128*	probably null	Het
Ephb2	T	C	4: 136,498,353 (GRCm39)	N242S	probably damaging	Het
Fam13b	A	T	18: 34,590,744 (GRCm39)	F478Y	probably benign	Het
Fastkd2	C	G	1: 63,774,619 (GRCm39)		probably null	Het
Fbxo40	T	A	16: 36,790,012 (GRCm39)	D366V	probably damaging	Het
Fhod3	A	T	18: 24,903,551 (GRCm39)	K95M	probably damaging	Het
Foxo3	T	A	10: 42,151,023 (GRCm39)	Q136L	probably benign	Het
Gadl1	A	T	9: 115,783,883 (GRCm39)	Q236L	possibly damaging	Het
Galnt13	A	G	2: 55,002,873 (GRCm39)	D560G	probably benign	Het
Ghsr	A	G	3: 27,426,315 (GRCm39)	S124G	probably benign	Het
Gkn2	A	G	6: 87,355,268 (GRCm39)		probably null	Het
Glyctk	T	A	9: 106,033,638 (GRCm39)	R68W	unknown	Het
Gm5157	G	A	7: 20,918,641 (GRCm39)	P301S	unknown	Het
Hdc	A	T	2: 126,458,130 (GRCm39)	I64N	probably damaging	Het
Helq	A	T	5: 100,940,427 (GRCm39)		probably null	Het
Ighv1-43	T	C	12: 114,909,583 (GRCm39)	Y113C	probably damaging	Het
Ipo9	T	C	1: 135,334,591 (GRCm39)	T273A	probably benign	Het
Itga4	G	A	2: 79,146,389 (GRCm39)	V774I	probably benign	Het
Itpr3	T	C	17: 27,335,751 (GRCm39)	L2287P	probably damaging	Het
Llgl1	T	A	11: 60,598,138 (GRCm39)	I394N	probably damaging	Het
Mta1	G	A	12: 113,095,308 (GRCm39)	R487H	probably benign	Het
Neb	T	C	2: 52,037,681 (GRCm39)	D7049G	probably benign	Het
Nlrp4f	G	A	13: 65,342,832 (GRCm39)	S271F	probably damaging	Het
Noxo1	A	G	17: 24,918,356 (GRCm39)	D172G	probably damaging	Het
Nup155	T	A	15: 8,150,991 (GRCm39)	V347E	probably damaging	Het
Oaf	G	T	9: 43,133,968 (GRCm39)	A251E	possibly damaging	Het
Pds5b	T	A	5: 150,715,637 (GRCm39)	F1039I	probably damaging	Het
Pla2g12b	T	A	10: 59,257,062 (GRCm39)		probably null	Het
Prmt3	A	G	7: 49,437,049 (GRCm39)	D208G	possibly damaging	Het
Ptcd3	G	A	6: 71,865,592 (GRCm39)	T441M	probably damaging	Het
Rabl6	A	G	2: 25,474,786 (GRCm39)		probably null	Het
Shtn1	T	A	19: 58,992,328 (GRCm39)	I417F	probably damaging	Het
Slc20a2	T	C	8: 23,030,417 (GRCm39)	S158P	probably damaging	Het
Sltm	C	G	9: 70,493,955 (GRCm39)	P802R	possibly damaging	Het
Spef2	T	C	15: 9,717,649 (GRCm39)	Y232C	probably damaging	Het
Stard9	C	T	2: 120,534,942 (GRCm39)	T3733I	probably benign	Het
Thrap3	A	T	4: 126,071,855 (GRCm39)	F512L	probably benign	Het
Tmem150c	A	T	5: 100,240,963 (GRCm39)	I30K	probably damaging	Het
Tnnt1	C	T	7: 4,511,582 (GRCm39)	A168T	probably damaging	Het
Trak2	A	G	1: 58,957,983 (GRCm39)	L308P	probably damaging	Het
Trp53i11	T	C	2: 93,029,244 (GRCm39)	L81P	probably damaging	Het
Usp16	T	C	16: 87,271,472 (GRCm39)	Y344H	probably benign	Het
Vinac1	T	C	2: 128,878,914 (GRCm39)	E1004G	unknown	Het
Xrcc5	G	T	1: 72,395,985 (GRCm39)	V593L	probably benign	Het
Zfp616	T	A	11: 73,976,271 (GRCm39)	C847S	probably damaging	Het
Zfp626	A	T	7: 27,518,924 (GRCm39)	Y635F	probably benign	Het
Zfp799	G	A	17: 33,038,473 (GRCm39)	R598*	probably null	Het
Zfp831	A	G	2: 174,487,097 (GRCm39)	K591E	possibly damaging	Het

Other mutations in Zcchc14

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02035:Zcchc14	APN	8	122,331,354 (GRCm39)	unclassified	probably benign
IGL02060:Zcchc14	APN	8	122,330,634 (GRCm39)	missense	probably damaging	0.98
IGL02455:Zcchc14	APN	8	122,333,009 (GRCm39)	unclassified	probably benign
IGL03196:Zcchc14	APN	8	122,335,877 (GRCm39)	unclassified	probably benign
P0033:Zcchc14	UTSW	8	122,336,898 (GRCm39)	intron	probably benign
R0483:Zcchc14	UTSW	8	122,355,388 (GRCm39)	intron	probably benign
R0639:Zcchc14	UTSW	8	122,332,188 (GRCm39)	nonsense	probably null
R1013:Zcchc14	UTSW	8	122,333,664 (GRCm39)	unclassified	probably benign
R1129:Zcchc14	UTSW	8	122,335,154 (GRCm39)	unclassified	probably benign
R1546:Zcchc14	UTSW	8	122,331,002 (GRCm39)	intron	probably benign
R1563:Zcchc14	UTSW	8	122,330,718 (GRCm39)	missense	probably benign	0.10
R1861:Zcchc14	UTSW	8	122,335,990 (GRCm39)	unclassified	probably benign
R2200:Zcchc14	UTSW	8	122,332,167 (GRCm39)	unclassified	probably benign
R2419:Zcchc14	UTSW	8	122,330,675 (GRCm39)	missense	probably damaging	0.99
R4246:Zcchc14	UTSW	8	122,331,031 (GRCm39)	small deletion	probably benign
R4249:Zcchc14	UTSW	8	122,331,031 (GRCm39)	small deletion	probably benign
R4424:Zcchc14	UTSW	8	122,378,680 (GRCm39)	intron	probably benign
R4470:Zcchc14	UTSW	8	122,378,498 (GRCm39)	intron	probably benign
R4520:Zcchc14	UTSW	8	122,335,834 (GRCm39)	unclassified	probably benign
R4681:Zcchc14	UTSW	8	122,335,339 (GRCm39)	unclassified	probably benign
R5253:Zcchc14	UTSW	8	122,345,433 (GRCm39)	intron	probably benign
R5314:Zcchc14	UTSW	8	122,335,337 (GRCm39)	unclassified	probably benign
R5591:Zcchc14	UTSW	8	122,332,187 (GRCm39)	unclassified	probably benign
R5746:Zcchc14	UTSW	8	122,331,378 (GRCm39)	unclassified	probably benign
R5781:Zcchc14	UTSW	8	122,331,332 (GRCm39)	unclassified	probably benign
R5897:Zcchc14	UTSW	8	122,331,899 (GRCm39)	unclassified	probably benign
R5930:Zcchc14	UTSW	8	122,338,097 (GRCm39)	intron	probably benign
R5963:Zcchc14	UTSW	8	122,355,362 (GRCm39)	intron	probably benign
R6364:Zcchc14	UTSW	8	122,331,598 (GRCm39)	unclassified	probably benign
R6562:Zcchc14	UTSW	8	122,330,842 (GRCm39)	missense	probably damaging	0.99
R6579:Zcchc14	UTSW	8	122,331,206 (GRCm39)	intron	probably benign
R6592:Zcchc14	UTSW	8	122,331,378 (GRCm39)	unclassified	probably benign
R6699:Zcchc14	UTSW	8	122,335,355 (GRCm39)	unclassified	probably benign
R7195:Zcchc14	UTSW	8	122,335,200 (GRCm39)	missense	unknown
R7420:Zcchc14	UTSW	8	122,378,530 (GRCm39)	intron	probably benign
R7490:Zcchc14	UTSW	8	122,331,756 (GRCm39)	missense	unknown
R7597:Zcchc14	UTSW	8	122,335,239 (GRCm39)	missense	unknown
R7758:Zcchc14	UTSW	8	122,331,428 (GRCm39)	missense	unknown
R7773:Zcchc14	UTSW	8	122,378,514 (GRCm39)	missense	unknown
R7831:Zcchc14	UTSW	8	122,331,984 (GRCm39)	missense	not run
R7919:Zcchc14	UTSW	8	122,330,912 (GRCm39)	missense	probably damaging	1.00
R9000:Zcchc14	UTSW	8	122,336,880 (GRCm39)	missense	unknown
R9124:Zcchc14	UTSW	8	122,331,969 (GRCm39)	missense	unknown
R9667:Zcchc14	UTSW	8	122,331,863 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTGCTATTGGCGCAGAAGC -3'
(R):5'- ACTCCGTGCACAAGTCAGAC -3'

Sequencing Primer
(F):5'- TGGGACAAGAAGTCTGCCC -3'
(R):5'- TGCACAAGTCAGACAGGGGC -3'

Posted On

2019-12-20