Mutagenetix > Incidental Mutation

Incidental Mutation 'R7195:Zcchc14'

559862

Institutional Source

Beutler Lab

Gene Symbol

Zcchc14

Ensembl Gene

ENSMUSG00000061410

Gene Name

zinc finger, CCHC domain containing 14

Synonyms

Bdg29

MMRRC Submission

045336-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7195 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

122325442-122379640 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122335200 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 307 (I307V)

Ref Sequence

ENSEMBL: ENSMUSP00000040360 (fasta)

Gene Model

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

AlphaFold

Q8VIG0

Predicted Effect

unknown
Transcript: ENSMUST00000046386
AA Change: I307V

SMART Domains

Protein: ENSMUSP00000040360
Gene: ENSMUSG00000061410
AA Change: I307V

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: 99.9%
10x: 99.7%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930438A08Rik	T	C	11: 58,179,242 (GRCm39)		probably null	Het
Abca2	A	G	2: 25,332,088 (GRCm39)	D1400G	probably benign	Het
Actl11	A	T	9: 107,806,069 (GRCm39)	K131*	probably null	Het
Adam39	A	T	8: 41,277,812 (GRCm39)	R68*	probably null	Het
Akap7	A	T	10: 25,147,405 (GRCm39)	N108K	probably damaging	Het
Arhgef10l	C	A	4: 140,338,721 (GRCm39)	A14S	probably benign	Het
Ccdc141	T	G	2: 76,879,927 (GRCm39)	N632T	probably benign	Het
Ccm2	T	C	11: 6,546,302 (GRCm39)	S435P	probably damaging	Het
Cd36	A	G	5: 18,019,187 (GRCm39)	L178P	probably damaging	Het
Cd7	T	C	11: 120,929,075 (GRCm39)	I59V	probably benign	Het
Cds2	T	A	2: 132,135,204 (GRCm39)	S32T	probably benign	Het
Cep19	A	G	16: 31,925,904 (GRCm39)	D104G	probably damaging	Het
Col1a2	C	T	6: 4,510,753 (GRCm39)	P68S	unknown	Het
Col20a1	A	G	2: 180,649,024 (GRCm39)	H1011R	probably damaging	Het
Cspg4b	A	T	13: 113,504,463 (GRCm39)	D1864V		Het
D7Ertd443e	A	G	7: 133,896,851 (GRCm39)	V513A	probably damaging	Het
Egfr	C	T	11: 16,818,162 (GRCm39)	P228L	probably damaging	Het
Fam243	C	T	16: 92,118,037 (GRCm39)	V84M	probably damaging	Het
Fam78b	A	G	1: 166,906,131 (GRCm39)	R97G	probably damaging	Het
Flt1	C	T	5: 147,540,386 (GRCm39)	V768M	probably damaging	Het
Gdap1l1	A	T	2: 163,288,050 (GRCm39)	N96Y	probably damaging	Het
Gm7168	T	A	17: 14,169,622 (GRCm39)	Y330N	probably benign	Het
Hnrnpul1	T	C	7: 25,424,203 (GRCm39)	N683S	unknown	Het
Ice2	C	T	9: 69,335,782 (GRCm39)	P922S	possibly damaging	Het
Iglv2	A	G	16: 19,079,260 (GRCm39)	V81A	not run	Het
Irs1	A	G	1: 82,265,177 (GRCm39)	I1013T	probably benign	Het
Itih4	T	C	14: 30,621,432 (GRCm39)	S832P	probably damaging	Het
Klhl1	A	T	14: 96,517,513 (GRCm39)	Y388N	probably benign	Het
Lrrc37a	G	A	11: 103,348,601 (GRCm39)	S2698L	unknown	Het
Map4k4	T	C	1: 40,058,829 (GRCm39)	Y1008H	possibly damaging	Het
Mdn1	G	T	4: 32,701,823 (GRCm39)	G1519W	probably damaging	Het
Mga	T	A	2: 119,747,809 (GRCm39)	D653E	probably damaging	Het
Npas1	T	C	7: 16,208,733 (GRCm39)	E48G	probably damaging	Het
Nup188	G	A	2: 30,231,842 (GRCm39)		probably null	Het
Or1p1b	G	T	11: 74,130,394 (GRCm39)	M1I	probably null	Het
Or3a4	T	A	11: 73,945,223 (GRCm39)	M121L	probably damaging	Het
Or4c110	G	A	2: 88,832,075 (GRCm39)	L186F		Het
Or51a39	A	G	7: 102,362,873 (GRCm39)	V249A	possibly damaging	Het
Or55b4	A	T	7: 102,133,574 (GRCm39)	V251D	probably damaging	Het
Or7h8	A	G	9: 20,123,840 (GRCm39)	N65S	probably damaging	Het
Oxct1	T	C	15: 4,158,383 (GRCm39)	V439A	probably damaging	Het
Pcdhb22	G	T	18: 37,652,341 (GRCm39)	G13W	probably damaging	Het
Pex11g	A	G	8: 3,509,237 (GRCm39)	V230A	probably benign	Het
Pop1	C	T	15: 34,510,525 (GRCm39)	S439L	probably damaging	Het
Ptpn9	T	A	9: 56,929,533 (GRCm39)	H83Q	probably benign	Het
Qrfp	C	T	2: 31,698,704 (GRCm39)	R76H	probably benign	Het
Slc30a3	A	G	5: 31,246,139 (GRCm39)	V197A	probably benign	Het
Slc8a3	T	C	12: 81,361,047 (GRCm39)	N591D	possibly damaging	Het
Sp4	G	T	12: 118,263,807 (GRCm39)	Q80K	possibly damaging	Het
Spock1	C	T	13: 58,055,316 (GRCm39)	G29D	possibly damaging	Het
Sprr1a	G	T	3: 92,391,674 (GRCm39)	P109Q	probably damaging	Het
Suz12	T	A	11: 79,904,309 (GRCm39)	F239L	probably damaging	Het
Tbx3	A	G	5: 119,813,648 (GRCm39)	Y248C	probably damaging	Het
Trabd2b	T	C	4: 114,266,637 (GRCm39)	L217P	probably damaging	Het
Ubxn11	A	C	4: 133,853,726 (GRCm39)	I398L	possibly damaging	Het
Vmn1r173	T	A	7: 23,401,884 (GRCm39)	S40T	probably damaging	Het
Vmn2r2	T	C	3: 64,023,900 (GRCm39)	S894G	probably benign	Het
Vmn2r65	A	G	7: 84,592,347 (GRCm39)		probably null	Het
Vps13c	G	A	9: 67,853,107 (GRCm39)	G2400D	possibly damaging	Het
Vps8	T	C	16: 21,275,032 (GRCm39)	Y197H	probably damaging	Het
Wdr91	T	C	6: 34,866,209 (GRCm39)	N486D	possibly damaging	Het
Wwp1	A	G	4: 19,627,908 (GRCm39)	I695T	possibly damaging	Het
Zc3hc1	T	C	6: 30,382,547 (GRCm39)	D133G	probably benign	Het
Zfp933	G	A	4: 147,910,636 (GRCm39)	T320I	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
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
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'- GGCGTCTAAAAGCCTTACTTGG -3'
(R):5'- TACCTCTAAGCTCCTGGTGC -3'

Sequencing Primer
(F):5'- TACTTGGCCCCTCTAGGAATGAG -3'
(R):5'- AAGCTCCTGGTGCCACTCAC -3'

Posted On

2019-06-26