Mutagenetix > Incidental Mutation

Incidental Mutation 'R5340:Zcchc7'

422269

Institutional Source

Beutler Lab

Gene Symbol

Zcchc7

Ensembl Gene

ENSMUSG00000035649

Gene Name

zinc finger, CCHC domain containing 7

Synonyms

4930572I07Rik, D4Wsu132e

MMRRC Submission

042919-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.253) question?

Stock #

R5340 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44756556-44932215 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 44762245 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 124 (N124K)

Ref Sequence

ENSEMBL: ENSMUSP00000124542 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107824] [ENSMUST00000142714] [ENSMUST00000143385] [ENSMUST00000154121]

AlphaFold

B1AX39

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000067521

Predicted Effect

probably benign
Transcript: ENSMUST00000107824
AA Change: N124K

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: N124K

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

probably benign
Transcript: ENSMUST00000142714
AA Change: N124K

PolyPhen 2 Score 0.038 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000124542
Gene: ENSMUSG00000035649
AA Change: N124K

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC
low complexity region	153	172	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000143385

SMART Domains

Protein: ENSMUSP00000131178
Gene: ENSMUSG00000035649

Domain	Start	End	E-Value	Type
low complexity region	18	31	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144436

Predicted Effect

probably benign
Transcript: ENSMUST00000154121

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aqp7	T	C	4: 41,034,347 (GRCm39)	R271G	probably benign	Het
Atp4a	A	G	7: 30,420,231 (GRCm39)	I793V	probably benign	Het
Baz2a	C	T	10: 127,950,911 (GRCm39)	R535C	probably damaging	Het
BC034090	T	C	1: 155,102,160 (GRCm39)	T35A	possibly damaging	Het
Bnip1	T	C	17: 27,005,764 (GRCm39)		probably null	Het
Ccdc136	A	G	6: 29,411,859 (GRCm39)	S369G	possibly damaging	Het
Csrnp3	A	G	2: 65,852,781 (GRCm39)	D391G	probably benign	Het
Ctbp2	G	T	7: 132,615,692 (GRCm39)	H414Q	probably benign	Het
Dnah6	A	G	6: 73,189,603 (GRCm39)	I15T	probably benign	Het
Dync2li1	A	G	17: 84,957,130 (GRCm39)		probably null	Het
Eri3	A	T	4: 117,530,991 (GRCm39)	I329F	probably damaging	Het
Flii	T	A	11: 60,608,094 (GRCm39)	I786F	probably damaging	Het
Fmo1	A	T	1: 162,657,551 (GRCm39)	I530N	probably benign	Het
Gm28042	T	C	2: 119,871,929 (GRCm39)	S960P	probably benign	Het
Gzmm	C	A	10: 79,530,907 (GRCm39)	F236L	probably benign	Het
H2bl1	C	T	13: 99,120,951 (GRCm39)	R25H	possibly damaging	Het
Igkv4-55	A	G	6: 69,584,489 (GRCm39)	V41A	probably damaging	Het
Ipo9	A	G	1: 135,313,170 (GRCm39)	Y1020H	probably benign	Het
Masp1	T	C	16: 23,276,858 (GRCm39)	Y549C	probably damaging	Het
Mblac1	A	T	5: 138,192,840 (GRCm39)	S61C	probably damaging	Het
Mical1	T	A	10: 41,359,427 (GRCm39)		probably null	Het
Mroh9	C	T	1: 162,908,156 (GRCm39)		probably benign	Het
Mta2	T	C	19: 8,919,720 (GRCm39)	M1T	probably null	Het
Neb	A	G	2: 52,113,060 (GRCm39)	Y4245H	probably damaging	Het
Or11j4	T	C	14: 50,630,677 (GRCm39)	F155L	probably damaging	Het
Or4c52	T	C	2: 89,845,706 (GRCm39)	V144A	probably benign	Het
Otulinl	T	C	15: 27,658,175 (GRCm39)	M282V	possibly damaging	Het
Pak2	G	T	16: 31,853,764 (GRCm39)		probably null	Het
Phc3	A	T	3: 30,961,616 (GRCm39)	F939I	probably damaging	Het
Prss3l	T	C	6: 41,422,307 (GRCm39)	N33D	probably benign	Het
Rogdi	C	A	16: 4,831,225 (GRCm39)	R14L	probably benign	Het
Ryr3	T	C	2: 112,664,470 (GRCm39)	Y1627C	probably damaging	Het
Scrn3	A	T	2: 73,166,154 (GRCm39)	K396*	probably null	Het
Sh3pxd2a	T	C	19: 47,256,670 (GRCm39)	N683D	probably benign	Het
Smtnl1	T	A	2: 84,645,785 (GRCm39)	H362L	probably damaging	Het
Sned1	A	G	1: 93,210,479 (GRCm39)	S927G	probably benign	Het
Tcaf1	A	G	6: 42,655,923 (GRCm39)	V351A	probably damaging	Het
Tmem232	C	T	17: 65,709,993 (GRCm39)	V432M	possibly damaging	Het
Ttll11	G	T	2: 35,792,801 (GRCm39)	H347Q	probably damaging	Het
Vmn2r56	A	C	7: 12,449,799 (GRCm39)	D146E	probably damaging	Het
Wwp1	A	G	4: 19,638,773 (GRCm39)		probably null	Het
Zfp667	A	G	7: 6,308,252 (GRCm39)	T307A	possibly damaging	Het
Zfp709	T	A	8: 72,643,596 (GRCm39)	C342S	probably damaging	Het
Zfp940	A	G	7: 29,544,266 (GRCm39)	V547A	probably benign	Het

Other mutations in Zcchc7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Zcchc7	APN	4	44,931,318 (GRCm39)	missense	possibly damaging	0.76
IGL00542:Zcchc7	APN	4	44,931,462 (GRCm39)	missense	probably benign	0.00
IGL01309:Zcchc7	APN	4	44,926,060 (GRCm39)	missense	probably damaging	1.00
IGL01753:Zcchc7	APN	4	44,929,217 (GRCm39)	missense	probably benign	0.30
IGL02186:Zcchc7	APN	4	44,762,250 (GRCm39)	missense	possibly damaging	0.95
IGL02395:Zcchc7	APN	4	44,761,868 (GRCm39)	utr 5 prime	probably benign
IGL02423:Zcchc7	APN	4	44,931,244 (GRCm39)	missense	possibly damaging	0.81
IGL03350:Zcchc7	APN	4	44,931,188 (GRCm39)	missense	probably benign	0.13
R0371:Zcchc7	UTSW	4	44,762,190 (GRCm39)	missense	probably damaging	1.00
R1449:Zcchc7	UTSW	4	44,929,124 (GRCm39)	missense	possibly damaging	0.66
R2061:Zcchc7	UTSW	4	44,895,838 (GRCm39)	missense	probably damaging	1.00
R2096:Zcchc7	UTSW	4	44,931,059 (GRCm39)	missense	probably damaging	0.98
R4274:Zcchc7	UTSW	4	44,931,335 (GRCm39)	missense	possibly damaging	0.87
R4668:Zcchc7	UTSW	4	44,895,964 (GRCm39)	missense	probably damaging	1.00
R4989:Zcchc7	UTSW	4	44,931,039 (GRCm39)	missense	probably damaging	1.00
R5397:Zcchc7	UTSW	4	44,926,048 (GRCm39)	missense	probably damaging	0.96
R5700:Zcchc7	UTSW	4	44,931,084 (GRCm39)	missense	probably benign	0.00
R5891:Zcchc7	UTSW	4	44,895,838 (GRCm39)	missense	probably damaging	1.00
R5950:Zcchc7	UTSW	4	44,931,244 (GRCm39)	missense	possibly damaging	0.81
R5977:Zcchc7	UTSW	4	44,894,982 (GRCm39)	missense	possibly damaging	0.77
R6005:Zcchc7	UTSW	4	44,931,218 (GRCm39)	frame shift	probably null
R6405:Zcchc7	UTSW	4	44,926,032 (GRCm39)	missense	probably damaging	1.00
R7787:Zcchc7	UTSW	4	44,895,043 (GRCm39)	critical splice donor site	probably null
R8178:Zcchc7	UTSW	4	44,931,398 (GRCm39)	missense	probably benign	0.00
R9674:Zcchc7	UTSW	4	44,931,418 (GRCm39)	missense	possibly damaging	0.59

Predicted Primers

PCR Primer
(F):5'- ATTCGGAAACAGTGAGTAGTCAAC -3'
(R):5'- CCCACCAAGTTGAGAAGGATG -3'

Sequencing Primer
(F):5'- CAGTGAGTAGTCAACCAAATCAG -3'
(R):5'- CCAAGTTGAGAAGGATGTCATTGTC -3'

Posted On

2016-08-04