Mutagenetix > Incidental Mutation

Incidental Mutation 'R2399:Zc3h7a'

248639

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7a

Ensembl Gene

ENSMUSG00000037965

Gene Name

zinc finger CCCH type containing 7 A

Synonyms

A430104C18Rik, Zc3h7

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.141) question?

Stock #

R2399 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10954458-10994257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 10965265 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 623 (R623C)

Ref Sequence

ENSEMBL: ENSMUSP00000119480 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037633] [ENSMUST00000128083] [ENSMUST00000138185] [ENSMUST00000140755]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000037633
AA Change: R623C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: R623C

Domain	Start	End	E-Value	Type
PDB:2DBA\|A	26	157	9e-7	PDB
Blast:TPR	43	76	1e-7	BLAST
SCOP:d1ihga1	46	169	1e-11	SMART
Blast:TPR	124	156	9e-9	BLAST
low complexity region	308	319	N/A	INTRINSIC
low complexity region	380	398	N/A	INTRINSIC
ZnF_C2H2	443	467	1.83e2	SMART
ZnF_C3H1	630	654	1.57e1	SMART
ZnF_C3H1	770	795	8.81e0	SMART
ZnF_C2H2	856	880	1.62e0	SMART
ZnF_C3H1	902	926	1.76e-1	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000102303

Predicted Effect

probably benign
Transcript: ENSMUST00000128083

SMART Domains

Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965

Domain	Start	End	E-Value	Type
Pfam:TPR_11	41	120	2.7e-8	PFAM
Blast:TPR	124	156	4e-9	BLAST
low complexity region	308	319	N/A	INTRINSIC
low complexity region	380	398	N/A	INTRINSIC
Blast:ZnF_C2H2	443	467	2e-10	BLAST

Predicted Effect

probably damaging
Transcript: ENSMUST00000138185
AA Change: R623C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: R623C

Domain	Start	End	E-Value	Type
Pfam:TPR_11	41	120	3.9e-8	PFAM
Blast:TPR	124	156	6e-9	BLAST
low complexity region	308	319	N/A	INTRINSIC
low complexity region	380	398	N/A	INTRINSIC
Blast:ZnF_C2H2	443	467	4e-10	BLAST
Blast:ZnF_C3H1	628	654	5e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139391

Predicted Effect

probably benign
Transcript: ENSMUST00000140755

SMART Domains

Protein: ENSMUSP00000120720
Gene: ENSMUSG00000037965

Domain	Start	End	E-Value	Type
Pfam:TPR_11	41	120	1e-7	PFAM
Blast:TPR	124	156	5e-9	BLAST
low complexity region	308	319	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000140775

Predicted Effect

unknown
Transcript: ENSMUST00000140898
AA Change: R39C

SMART Domains

Protein: ENSMUSP00000118771
Gene: ENSMUSG00000037965
AA Change: R39C

Domain	Start	End	E-Value	Type
Blast:ZnF_C3H1	45	71	3e-10	BLAST

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143926

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 18 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310003L06Rik	A	G	5: 88,120,338 (GRCm39)	E365G	probably damaging	Het
Abtb1	G	A	6: 88,815,720 (GRCm39)	T221M	possibly damaging	Het
Atp2b1	T	A	10: 98,835,785 (GRCm39)	I510N	probably benign	Het
Atr	T	A	9: 95,753,652 (GRCm39)	H751Q	probably benign	Het
Cacna1d	T	C	14: 29,774,444 (GRCm39)	D1650G	probably benign	Het
Cd93	A	G	2: 148,284,071 (GRCm39)	I425T	probably benign	Het
Dpep2	A	G	8: 106,716,224 (GRCm39)	S135P	probably damaging	Het
Gm10717	A	G	9: 3,025,532 (GRCm39)	Y39C	probably benign	Het
Heatr4	T	C	12: 84,027,107 (GRCm39)	H50R	probably benign	Het
Itga6	T	C	2: 71,650,358 (GRCm39)	Y135H	probably damaging	Het
Kat6b	AGAGGAGGAGGAGGAGGAGGA	AGAGGAGGAGGAGGAGGA	14: 21,712,417 (GRCm39)		probably benign	Het
Myh15	T	C	16: 48,957,952 (GRCm39)	I923T	probably damaging	Het
Or5b108	T	A	19: 13,168,709 (GRCm39)	I226K	probably benign	Het
Or7e170	C	T	9: 19,795,220 (GRCm39)	C127Y	probably damaging	Het
Or7g16	T	A	9: 18,727,323 (GRCm39)	D89V	probably benign	Het
Styxl1	C	T	5: 135,776,635 (GRCm39)	E318K	possibly damaging	Het
Tmcc1	C	CAT	6: 116,019,831 (GRCm39)		probably null	Het
Zfp608	T	C	18: 55,030,974 (GRCm39)	K989E	probably damaging	Het

Other mutations in Zc3h7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Zc3h7a	APN	16	10,955,202 (GRCm39)	missense	probably damaging	0.98
IGL00908:Zc3h7a	APN	16	10,963,106 (GRCm39)	missense	probably damaging	0.99
IGL01087:Zc3h7a	APN	16	10,971,046 (GRCm39)	missense	probably benign	0.28
IGL01285:Zc3h7a	APN	16	10,956,979 (GRCm39)	missense	probably damaging	1.00
IGL01453:Zc3h7a	APN	16	10,967,242 (GRCm39)	missense	probably benign	0.00
IGL01639:Zc3h7a	APN	16	10,959,572 (GRCm39)	missense	possibly damaging	0.75
IGL01716:Zc3h7a	APN	16	10,963,580 (GRCm39)	missense	probably damaging	1.00
IGL02059:Zc3h7a	APN	16	10,978,862 (GRCm39)	unclassified	probably benign
IGL02170:Zc3h7a	APN	16	10,964,259 (GRCm39)	missense	probably benign
IGL02256:Zc3h7a	APN	16	10,965,140 (GRCm39)	missense	probably benign	0.04
IGL02904:Zc3h7a	APN	16	10,968,530 (GRCm39)	missense	probably damaging	1.00
IGL02941:Zc3h7a	APN	16	10,976,458 (GRCm39)	critical splice acceptor site	probably null
IGL03198:Zc3h7a	APN	16	10,980,528 (GRCm39)	nonsense	probably null
IGL03201:Zc3h7a	APN	16	10,974,166 (GRCm39)	critical splice acceptor site	probably null
IGL03302:Zc3h7a	APN	16	10,959,574 (GRCm39)	missense	probably damaging	1.00
agreement	UTSW	16	10,971,025 (GRCm39)	missense	probably benign	0.02
Clement	UTSW	16	10,982,466 (GRCm39)	nonsense	probably null
consensus	UTSW	16	10,978,890 (GRCm39)	missense	probably damaging	1.00
R0062:Zc3h7a	UTSW	16	10,957,011 (GRCm39)	missense	probably damaging	1.00
R0255:Zc3h7a	UTSW	16	10,958,601 (GRCm39)	missense	probably damaging	1.00
R0376:Zc3h7a	UTSW	16	10,974,066 (GRCm39)	missense	probably benign	0.00
R0545:Zc3h7a	UTSW	16	10,970,197 (GRCm39)	unclassified	probably benign
R0666:Zc3h7a	UTSW	16	10,974,167 (GRCm39)	unclassified	probably benign
R0831:Zc3h7a	UTSW	16	10,969,744 (GRCm39)	missense	probably damaging	0.99
R1127:Zc3h7a	UTSW	16	10,956,939 (GRCm39)	missense	probably damaging	1.00
R1296:Zc3h7a	UTSW	16	10,978,890 (GRCm39)	missense	probably damaging	1.00
R1472:Zc3h7a	UTSW	16	10,978,890 (GRCm39)	missense	probably damaging	1.00
R1499:Zc3h7a	UTSW	16	10,980,520 (GRCm39)	missense	probably damaging	1.00
R1747:Zc3h7a	UTSW	16	10,963,117 (GRCm39)	missense	possibly damaging	0.67
R1786:Zc3h7a	UTSW	16	10,968,469 (GRCm39)	nonsense	probably null
R1840:Zc3h7a	UTSW	16	10,978,890 (GRCm39)	missense	probably damaging	1.00
R1866:Zc3h7a	UTSW	16	10,965,168 (GRCm39)	missense	possibly damaging	0.81
R2055:Zc3h7a	UTSW	16	10,955,340 (GRCm39)	missense	probably benign	0.00
R2131:Zc3h7a	UTSW	16	10,968,469 (GRCm39)	nonsense	probably null
R2281:Zc3h7a	UTSW	16	10,976,458 (GRCm39)	unclassified	probably benign
R2979:Zc3h7a	UTSW	16	10,976,837 (GRCm39)	missense	probably damaging	1.00
R3915:Zc3h7a	UTSW	16	10,974,074 (GRCm39)	missense	possibly damaging	0.92
R4078:Zc3h7a	UTSW	16	10,969,011 (GRCm39)	missense	probably benign	0.05
R4095:Zc3h7a	UTSW	16	10,963,099 (GRCm39)	missense	probably damaging	1.00
R4208:Zc3h7a	UTSW	16	10,982,508 (GRCm39)	missense	possibly damaging	0.60
R4444:Zc3h7a	UTSW	16	10,968,457 (GRCm39)	critical splice donor site	probably null
R4739:Zc3h7a	UTSW	16	10,959,573 (GRCm39)	missense	probably damaging	1.00
R5059:Zc3h7a	UTSW	16	10,978,985 (GRCm39)	frame shift	probably null
R5545:Zc3h7a	UTSW	16	10,966,315 (GRCm39)	missense	possibly damaging	0.89
R5815:Zc3h7a	UTSW	16	10,974,050 (GRCm39)	missense	probably damaging	0.98
R5915:Zc3h7a	UTSW	16	10,982,466 (GRCm39)	nonsense	probably null
R5993:Zc3h7a	UTSW	16	10,968,526 (GRCm39)	missense	probably damaging	1.00
R6183:Zc3h7a	UTSW	16	10,965,234 (GRCm39)	missense	possibly damaging	0.81
R6459:Zc3h7a	UTSW	16	10,971,025 (GRCm39)	missense	probably damaging	1.00
R6513:Zc3h7a	UTSW	16	10,976,629 (GRCm39)	critical splice acceptor site	probably null
R6700:Zc3h7a	UTSW	16	10,976,831 (GRCm39)	missense	possibly damaging	0.59
R6904:Zc3h7a	UTSW	16	10,963,535 (GRCm39)	missense	probably damaging	1.00
R6964:Zc3h7a	UTSW	16	10,967,088 (GRCm39)	missense	probably benign	0.00
R7354:Zc3h7a	UTSW	16	10,966,378 (GRCm39)	missense	probably damaging	1.00
R7667:Zc3h7a	UTSW	16	10,956,890 (GRCm39)	nonsense	probably null
R7742:Zc3h7a	UTSW	16	10,971,025 (GRCm39)	missense	probably benign	0.02
R7780:Zc3h7a	UTSW	16	10,967,115 (GRCm39)	missense	probably benign	0.26
R8228:Zc3h7a	UTSW	16	10,956,954 (GRCm39)	missense	probably damaging	1.00
R8302:Zc3h7a	UTSW	16	10,955,249 (GRCm39)	missense	probably damaging	1.00
R8309:Zc3h7a	UTSW	16	10,964,417 (GRCm39)	intron	probably benign
R8795:Zc3h7a	UTSW	16	10,965,147 (GRCm39)	missense	possibly damaging	0.65
R9060:Zc3h7a	UTSW	16	10,969,047 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGCACAGGGACAGTAAC -3'
(R):5'- TCACCATTAAAAGTTGCGTGTG -3'

Sequencing Primer
(F):5'- GCACAGGGACAGTAACAAGCC -3'
(R):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'

Posted On

2014-11-11