Mutagenetix > Incidental Mutations

Incidental Mutation 'R5397:Zcchc7'

429735

Institutional Source

Beutler Lab

Gene Symbol

Zcchc7

Ensembl Gene

ENSMUSG00000035649

Gene Name

zinc finger, CCHC domain containing 7

Synonyms

D4Wsu132e, 4930572I07Rik

MMRRC Submission

042968-MU

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.345) question?

Stock #

R5397 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44755877-44932215 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 44926048 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Glutamic Acid at position 28 (A28E)

Ref Sequence

ENSEMBL: ENSMUSP00000126678 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107824] [ENSMUST00000147272]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107823

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107824
AA Change: A349E

PolyPhen 2 Score 0.820 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: A349E

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC
ZnF_C2HC	237	253	4.13e-3	SMART
ZnF_C2HC	259	275	1.51e0	SMART
ZnF_C2HC	300	316	1.08e0	SMART
low complexity region	324	336	N/A	INTRINSIC
ZnF_C2HC	344	360	9.16e-2	SMART
low complexity region	497	517	N/A	INTRINSIC
low complexity region	530	538	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000126968
AA Change: A18E

SMART Domains

Protein: ENSMUSP00000125979
Gene: ENSMUSG00000035649
AA Change: A18E

Domain	Start	End	E-Value	Type
ZnF_C2HC	14	30	9.16e-2	SMART
low complexity region	52	68	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147272
AA Change: A28E

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: A28E

Domain	Start	End	E-Value	Type
low complexity region	3	19	N/A	INTRINSIC
ZnF_C2HC	23	39	9.16e-2	SMART
low complexity region	176	196	N/A	INTRINSIC
low complexity region	209	217	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acox2	T	C	14: 8,243,803	T518A	probably benign	Het
Acvr1b	T	A	15: 101,198,964	V254D	probably damaging	Het
Adar	T	C	3: 89,735,319	I169T	probably benign	Het
Afg3l2	G	T	18: 67,421,259	L458M	probably damaging	Het
Arap1	A	T	7: 101,384,912	Q187L	possibly damaging	Het
Atad5	T	A	11: 80,111,493	M1037K	probably damaging	Het
Bsg	T	A	10: 79,708,795	W56R	probably damaging	Het
C1qtnf3	A	G	15: 10,978,541	T276A	probably damaging	Het
Capn2	A	G	1: 182,470,706	C665R	probably damaging	Het
Cast	A	G	13: 74,720,937	S248P	possibly damaging	Het
Cd68	C	T	11: 69,665,658	V108I	probably benign	Het
Cyp2d11	A	T	15: 82,392,078	W131R	probably damaging	Het
Dhx58	A	G	11: 100,703,920	V50A	probably damaging	Het
Fam124a	A	G	14: 62,606,389	S449G	probably benign	Het
Flnc	G	A	6: 29,441,161	M371I	possibly damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Gm4787	G	C	12: 81,377,830	T518S	probably benign	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gpr149	A	G	3: 62,530,805	S644P	probably damaging	Het
Gucy1b1	G	A	3: 82,044,151	T274I	possibly damaging	Het
Kcnq5	A	G	1: 21,405,856	V541A	probably damaging	Het
Kdm5b	G	A	1: 134,622,098		probably null	Het
Lig4	G	T	8: 9,972,644	R379S	probably benign	Het
Map7	G	A	10: 20,273,321	R514Q	unknown	Het
Mertk	T	A	2: 128,771,464	F467I	possibly damaging	Het
Mettl4	A	T	17: 94,727,277	Y463*	probably null	Het
Nme8	T	C	13: 19,694,379	D70G	probably damaging	Het
Npat	A	G	9: 53,570,474	N1161D	probably damaging	Het
Olfr1283	T	A	2: 111,368,940	C103S	probably benign	Het
Olfr616	T	A	7: 103,564,506	I258F	probably damaging	Het
Olfr813	T	C	10: 129,856,710	F64S	probably damaging	Het
Paxip1	A	T	5: 27,772,004		probably benign	Het
Peg10	C	CTCG	6: 4,756,453		probably benign	Het
Plxnc1	T	C	10: 94,843,752	T923A	probably benign	Het
Pms1	T	A	1: 53,192,120	K857*	probably null	Het
Ppp1r9b	A	G	11: 95,002,110	E260G	probably damaging	Het
Prpf3	A	T	3: 95,853,579	S4T	probably benign	Het
Rdh14	T	A	12: 10,394,869	V240D	probably damaging	Het
Ripply1	TTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCT	TTCCTCCTCCTCCTCCTCCTCCTCCTCCT	X: 139,779,850		probably benign	Het
S100a1	A	T	3: 90,512,135	M1K	probably null	Het
Slc2a5	G	A	4: 150,139,823		probably null	Het
Slc5a5	T	C	8: 70,891,179	T160A	probably damaging	Het
Srcap	T	G	7: 127,553,296		probably null	Het
Tcrg-V5	A	C	13: 19,192,558	E42D	possibly damaging	Het
Tgm6	T	A	2: 130,141,908	M329K	possibly damaging	Het
Tom1l1	G	A	11: 90,661,774	A201V	probably benign	Het
Ttc13	T	C	8: 124,675,263	T662A	possibly damaging	Het
Ttn	T	C	2: 76,725,255	T30469A	probably damaging	Het
Ube3a	T	A	7: 59,286,912	S645R	probably benign	Het
Vgll2	A	G	10: 52,025,166	E64G	probably damaging	Het
Vmn1r25	A	T	6: 57,979,075	C76*	probably null	Het
Vmn2r101	A	G	17: 19,588,842	N78D	probably damaging	Het
Zcchc10	CCAGCAGCAGCAGCAGCAGCAG	CCAGCAGCAGCAGCAGCAG	11: 53,332,517		probably benign	Het

Other mutations in Zcchc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Zcchc7	APN	4	44931318	missense	possibly damaging	0.76
IGL00542:Zcchc7	APN	4	44931462	missense	probably benign	0.00
IGL01309:Zcchc7	APN	4	44926060	missense	probably damaging	1.00
IGL01753:Zcchc7	APN	4	44929217	missense	probably benign	0.30
IGL02186:Zcchc7	APN	4	44762250	missense	possibly damaging	0.95
IGL02395:Zcchc7	APN	4	44761868	utr 5 prime	probably benign
IGL02423:Zcchc7	APN	4	44931244	missense	possibly damaging	0.81
IGL03350:Zcchc7	APN	4	44931188	missense	probably benign	0.13
R0371:Zcchc7	UTSW	4	44762190	missense	probably damaging	1.00
R1449:Zcchc7	UTSW	4	44929124	missense	possibly damaging	0.66
R2061:Zcchc7	UTSW	4	44895838	missense	probably damaging	1.00
R2096:Zcchc7	UTSW	4	44931059	missense	probably damaging	0.98
R4274:Zcchc7	UTSW	4	44931335	missense	possibly damaging	0.87
R4668:Zcchc7	UTSW	4	44895964	missense	probably damaging	1.00
R4989:Zcchc7	UTSW	4	44931039	missense	probably damaging	1.00
R5340:Zcchc7	UTSW	4	44762245	missense	probably benign	0.04
R5700:Zcchc7	UTSW	4	44931084	missense	probably benign	0.00
R5891:Zcchc7	UTSW	4	44895838	missense	probably damaging	1.00
R5950:Zcchc7	UTSW	4	44931244	missense	possibly damaging	0.81
R5977:Zcchc7	UTSW	4	44894982	missense	possibly damaging	0.77
R6005:Zcchc7	UTSW	4	44931218	frame shift	probably null
R6405:Zcchc7	UTSW	4	44926032	missense	probably damaging	1.00
R7787:Zcchc7	UTSW	4	44895043	critical splice donor site	probably null
R8178:Zcchc7	UTSW	4	44931398	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACATGTTGTTTCCTGGGCTC -3'
(R):5'- TGCCTCACTACCTTTAGGAGC -3'

Sequencing Primer
(F):5'- GTTTCCTGGGCTCTATCATGAG -3'
(R):5'- CTCACTACCTTTAGGAGCTAAATTTG -3'

Posted On

2016-09-06