Mutagenetix > Incidental Mutation

Incidental Mutation 'R7420:Zcchc14'

575608

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

045498-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7420 (G1)

Quality Score

113.467

Status

Not validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

ACCGCCGCCGCCGCCGCC to ACCGCCGCCGCCGCC at 122378530 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000118564 (fasta)

Gene Model

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

AlphaFold

Q8VIG0

Predicted Effect

probably benign
Transcript: ENSMUST00000046386

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410

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

noncoding transcript
Transcript: ENSMUST00000182551

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca6	A	G	11: 110,141,303 (GRCm39)	V6A	probably benign	Het
Adam29	T	A	8: 56,325,933 (GRCm39)	M174L	probably benign	Het
Ano1	G	A	7: 144,209,378 (GRCm39)	T274I	probably benign	Het
Atad5	A	T	11: 79,986,688 (GRCm39)	T592S	probably benign	Het
Bud13	C	T	9: 46,199,113 (GRCm39)	P158L	probably benign	Het
Card19	T	C	13: 49,361,613 (GRCm39)	Y6C	probably damaging	Het
Cd36	C	G	5: 17,993,272 (GRCm39)	V393L	probably benign	Het
Cd79a	A	T	7: 24,596,971 (GRCm39)	R9*	probably null	Het
Cep164	T	C	9: 45,679,840 (GRCm39)	H1131R	probably benign	Het
Chia1	T	A	3: 106,037,980 (GRCm39)	S321T	probably benign	Het
Chrnd	T	A	1: 87,122,543 (GRCm39)	V217E	possibly damaging	Het
Cmtm7	T	C	9: 114,592,462 (GRCm39)		probably null	Het
Csn1s2a	T	C	5: 87,927,865 (GRCm39)	S60P	possibly damaging	Het
Defa30	T	A	8: 21,625,471 (GRCm39)	N78K	probably benign	Het
Dnah2	C	T	11: 69,369,623 (GRCm39)	A1618T	possibly damaging	Het
Dnah9	A	G	11: 66,008,233 (GRCm39)		probably null	Het
Epn1	A	T	7: 5,100,687 (GRCm39)	T546S	possibly damaging	Het
Fam135a	A	G	1: 24,051,567 (GRCm39)	S1443P	possibly damaging	Het
Fam13b	G	T	18: 34,627,664 (GRCm39)	P179Q	probably damaging	Het
Git2	T	C	5: 114,868,431 (GRCm39)	T647A	probably benign	Het
Gli2	T	C	1: 118,763,669 (GRCm39)	N1494S	probably benign	Het
Gm4952	G	A	19: 12,604,265 (GRCm39)	G226R	probably damaging	Het
Gm5460	T	A	14: 33,758,714 (GRCm39)	F156I	probably damaging	Het
Heatr5b	A	T	17: 79,115,909 (GRCm39)	V849D	probably damaging	Het
Hepacam	A	G	9: 37,292,005 (GRCm39)	D111G	probably benign	Het
Hk1	T	C	10: 62,105,761 (GRCm39)	D895G	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kdm5b	T	C	1: 134,532,235 (GRCm39)	V471A	probably benign	Het
Klhdc8b	A	G	9: 108,326,317 (GRCm39)	Y239H	possibly damaging	Het
Krt15	A	T	11: 100,026,386 (GRCm39)	V100E	possibly damaging	Het
Krt82	T	C	15: 101,454,022 (GRCm39)	T229A	probably damaging	Het
Lrrc37	A	T	11: 103,504,451 (GRCm39)	S2506T	probably benign	Het
Lztr1	T	C	16: 17,341,993 (GRCm39)	L656P	probably damaging	Het
Mfrp	T	C	9: 44,013,773 (GRCm39)		probably benign	Het
Nfe2l1	A	G	11: 96,710,739 (GRCm39)	S497P	probably benign	Het
Or2ag1b	G	A	7: 106,288,227 (GRCm39)	A237V	possibly damaging	Het
Or8b44	G	T	9: 38,410,359 (GRCm39)	L131F	probably benign	Het
Otud4	C	A	8: 80,390,737 (GRCm39)	T418K	probably benign	Het
Pcdhb21	A	G	18: 37,648,256 (GRCm39)	N462D	probably damaging	Het
Plch1	A	G	3: 63,630,278 (GRCm39)	S497P	probably damaging	Het
Plekha8	T	C	6: 54,590,179 (GRCm39)	V48A	probably damaging	Het
Ppp2r5d	A	T	17: 46,998,507 (GRCm39)	F121L	probably null	Het
Prxl2c	C	T	13: 64,445,131 (GRCm39)	G164D	possibly damaging	Het
Sdad1	G	A	5: 92,453,596 (GRCm39)	A64V	possibly damaging	Het
Selenop	G	T	15: 3,309,052 (GRCm39)	A335S	probably damaging	Het
Shc3	T	C	13: 51,585,271 (GRCm39)	N448S	probably benign	Het
Shcbp1	G	A	8: 4,798,737 (GRCm39)	T394I	probably benign	Het
Slc39a11	G	T	11: 113,138,648 (GRCm39)	A276E	probably damaging	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Speg	T	A	1: 75,407,549 (GRCm39)	S3185R	probably damaging	Het
Tmem100	A	T	11: 89,926,579 (GRCm39)	*135Y	probably null	Het
Ube2o	A	T	11: 116,430,898 (GRCm39)	F1001I	probably damaging	Het
Usp7	T	C	16: 8,527,985 (GRCm39)	D148G	probably benign	Het
Vmn2r16	A	G	5: 109,511,736 (GRCm39)	T648A	probably damaging	Het
Vmn2r67	A	G	7: 84,785,944 (GRCm39)	L687P	possibly damaging	Het
Zfp800	A	G	6: 28,243,718 (GRCm39)	S416P	probably benign	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
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
R7889:Zcchc14	UTSW	8	122,331,634 (GRCm39)	missense	unknown
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'- GACAAAGGCCTTCTCGTGTC -3'
(R):5'- TCATCCACAACTACGGGCTG -3'

Sequencing Primer
(F):5'- TGGGCCGTGACACCGAAC -3'
(R):5'- ACAACTACGGGCTGCAGCTC -3'

Posted On

2019-10-07