Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03350:Zcchc7'

419667

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zcchc7

Ensembl Gene

ENSMUSG00000035649

Gene Name

zinc finger, CCHC domain containing 7

Synonyms

D4Wsu132e, 4930572I07Rik

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.287) question?

Stock #

IGL03350

Quality Score

Status

Chromosome

Chromosomal Location

44755877-44932215 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44931188 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 126 (T126A)

Ref Sequence

ENSEMBL: ENSMUSP00000126678 (fasta)

Gene Model

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000107823

Predicted Effect

probably benign
Transcript: ENSMUST00000107824
AA Change: T447A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000103454
Gene: ENSMUSG00000035649
AA Change: T447A

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: ENSMUST00000126968

SMART Domains

Protein: ENSMUSP00000125979
Gene: ENSMUSG00000035649

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 benign
Transcript: ENSMUST00000147272
AA Change: T126A

PolyPhen 2 Score 0.127 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000126678
Gene: ENSMUSG00000035649
AA Change: T126A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4922502D21Rik	C	A	6: 129,331,023	V28L	probably benign	Het
Adam26a	A	T	8: 43,569,552	Y300*	probably null	Het
Adgre1	T	A	17: 57,401,908	V33E	probably benign	Het
AI987944	A	G	7: 41,393,237		probably benign	Het
Atp4a	T	C	7: 30,720,867	L813P	probably damaging	Het
Blmh	A	G	11: 76,971,948	N396D	probably damaging	Het
Brat1	T	C	5: 140,705,995	L9P	probably damaging	Het
Ccdc171	T	C	4: 83,681,378	I810T	possibly damaging	Het
Cyp2a22	T	C	7: 26,934,854	T292A	possibly damaging	Het
Ecm2	C	T	13: 49,520,944	T280I	probably benign	Het
Fa2h	C	T	8: 111,349,296	V232I	probably benign	Het
Fbxw24	T	C	9: 109,607,013	D317G	probably damaging	Het
Flt4	C	A	11: 49,634,793	S722*	probably null	Het
Fryl	T	C	5: 73,133,306	Q85R	probably damaging	Het
Gm3239	A	G	14: 4,667,115	R188G	possibly damaging	Het
Hspa13	A	T	16: 75,757,829	S456R	probably damaging	Het
Htr1b	T	C	9: 81,632,122	Y144C	probably damaging	Het
Hydin	A	G	8: 110,312,224	H198R	possibly damaging	Het
Krt78	A	T	15: 101,946,517	M953K	probably benign	Het
Lgr5	G	T	10: 115,471,988	T255K	probably damaging	Het
Lrp2	T	A	2: 69,438,453	D4162V	probably damaging	Het
Map3k2	A	G	18: 32,212,148	D342G	probably damaging	Het
Miip	A	G	4: 147,862,522	V258A	probably benign	Het
Muc6	T	C	7: 141,652,059	H52R	probably damaging	Het
Nfs1	T	C	2: 156,127,740	E329G	probably benign	Het
Npsr1	T	C	9: 24,098,309	V37A	probably benign	Het
Olfr1107	A	C	2: 87,071,560	D191E	probably damaging	Het
Olfr23	A	T	11: 73,940,838	L197F	probably damaging	Het
Olfr356	T	C	2: 36,937,583	Y155H	probably damaging	Het
Pex16	T	A	2: 92,377,497	M98K	probably damaging	Het
Pla2r1	C	T	2: 60,455,173	C699Y	probably damaging	Het
Plcd4	A	T	1: 74,549,301	D103V	probably damaging	Het
Pnpla1	A	G	17: 28,876,992	D129G	probably damaging	Het
Rad23a	T	C	8: 84,837,479	E265G	possibly damaging	Het
Rbm11	C	T	16: 75,600,808	P209S	probably benign	Het
Ribc2	T	A	15: 85,135,502	W162R	probably damaging	Het
Rnf4	A	G	5: 34,346,860	E32G	possibly damaging	Het
Rpe65	A	T	3: 159,614,517	S269C	possibly damaging	Het
Slc7a14	T	A	3: 31,237,409	Y240F	probably benign	Het
Sorbs2	C	T	8: 45,805,807	P1047L	probably damaging	Het
Ttn	T	C	2: 76,749,822	I23576V	probably damaging	Het
Usp24	T	G	4: 106,371,079	Y780*	probably null	Het
Wee2	T	C	6: 40,449,731	S145P	probably damaging	Het
Zpld1	A	G	16: 55,241,329		probably benign	Het
Zufsp	G	A	10: 33,928,111	R456C	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
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
R5397:Zcchc7	UTSW	4	44926048	missense	probably damaging	0.96
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

Posted On

2016-08-02