Mutagenetix > Incidental Mutation

Incidental Mutation 'R1786:Zc3h7a'

202863

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7a

Ensembl Gene

ENSMUSG00000037965

Gene Name

zinc finger CCCH type containing 7 A

Synonyms

A430104C18Rik, Zc3h7

MMRRC Submission

039817-MU

Accession Numbers

Essential gene?

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

Stock #

R1786 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

10954458-10994257 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 10968469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 503 (Y503*)

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 null
Transcript: ENSMUST00000037633
AA Change: Y503*

SMART Domains

Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: Y503*

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

probably null
Transcript: ENSMUST00000128083
AA Change: Y503*

SMART Domains

Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: Y503*

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 null
Transcript: ENSMUST00000138185
AA Change: Y503*

SMART Domains

Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: Y503*

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

probably benign
Transcript: ENSMUST00000140898

SMART Domains

Protein: ENSMUSP00000118771
Gene: ENSMUSG00000037965

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142844

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155340

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155343

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000145457

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.4%

Validation Efficiency

97% (98/101)

Allele List at MGI

Other mutations in this stock

Total: 93 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	A	6: 128,553,223 (GRCm39)	N178I	probably damaging	Het
Abcc4	G	A	14: 118,790,761 (GRCm39)	R749C	probably damaging	Het
Acot11	T	C	4: 106,619,232 (GRCm39)	E201G	probably damaging	Het
Akap13	G	T	7: 75,261,182 (GRCm39)	A1269S	probably benign	Het
Aldh4a1	T	C	4: 139,371,439 (GRCm39)	V451A	probably benign	Het
Aopep	T	A	13: 63,357,963 (GRCm39)	C656S	probably benign	Het
Aox3	A	G	1: 58,209,002 (GRCm39)	H845R	probably damaging	Het
Asb6	G	A	2: 30,717,088 (GRCm39)	R46W	probably damaging	Het
Bpifb6	T	C	2: 153,748,781 (GRCm39)	F259S	probably damaging	Het
Cad	T	A	5: 31,215,416 (GRCm39)	F76I	probably damaging	Het
Camk2b	T	C	11: 5,927,880 (GRCm39)	E390G	probably benign	Het
Cars1	C	A	7: 143,146,211 (GRCm39)	R71M	probably damaging	Het
Ccdc170	T	G	10: 4,469,043 (GRCm39)	I197S	probably benign	Het
Ccn4	G	A	15: 66,778,338 (GRCm39)	C53Y	probably damaging	Het
Cdc20b	A	T	13: 113,217,668 (GRCm39)	K362N	probably damaging	Het
Cntrl	CAGAG	CAG	2: 35,012,818 (GRCm39)		probably null	Het
Cpd	T	C	11: 76,683,624 (GRCm39)	D1045G	probably benign	Het
Crocc	T	C	4: 140,749,113 (GRCm39)	D1564G	probably damaging	Het
Csf1r	A	T	18: 61,262,149 (GRCm39)	M802L	probably damaging	Het
Dctn4	T	C	18: 60,679,407 (GRCm39)		probably null	Het
Dnah5	A	G	15: 28,313,932 (GRCm39)	Q1916R	probably damaging	Het
Dpysl2	A	G	14: 67,100,114 (GRCm39)		probably benign	Het
Dync2h1	A	G	9: 7,081,084 (GRCm39)	Y2871H	probably damaging	Het
Fam221b	T	A	4: 43,665,537 (GRCm39)	H307L	probably damaging	Het
Foxn4	C	T	5: 114,401,193 (GRCm39)	D37N	probably damaging	Het
Gemin4	G	C	11: 76,101,876 (GRCm39)	P962A	probably damaging	Het
Gm9797	T	C	10: 11,485,069 (GRCm39)		noncoding transcript	Het
Golim4	A	T	3: 75,815,456 (GRCm39)	V116D	probably damaging	Het
Gper1	C	T	5: 139,412,477 (GRCm39)	P274L	probably damaging	Het
Gpr132	A	G	12: 112,816,023 (GRCm39)	S268P	probably damaging	Het
Gtpbp2	T	C	17: 46,472,128 (GRCm39)	M21T	probably benign	Het
Hivep1	C	T	13: 42,337,262 (GRCm39)	A2447V	possibly damaging	Het
Ift20	G	A	11: 78,430,860 (GRCm39)	E68K	probably damaging	Het
Insrr	G	A	3: 87,717,879 (GRCm39)		probably null	Het
Kcnh8	T	C	17: 53,200,961 (GRCm39)	V465A	probably damaging	Het
Kif5c	T	A	2: 49,648,817 (GRCm39)		probably benign	Het
Kmt2a	G	A	9: 44,730,972 (GRCm39)		probably benign	Het
Lhx6	G	T	2: 35,977,470 (GRCm39)	C327*	probably null	Het
Lifr	A	G	15: 7,211,337 (GRCm39)	D625G	possibly damaging	Het
Llgl1	T	C	11: 60,598,066 (GRCm39)	V370A	probably benign	Het
Lman1	A	T	18: 66,124,653 (GRCm39)	M362K	probably damaging	Het
Lmtk2	C	T	5: 144,111,806 (GRCm39)	T842I	possibly damaging	Het
Lpin3	T	A	2: 160,738,729 (GRCm39)	L227*	probably null	Het
Ltv1	C	G	10: 13,058,280 (GRCm39)		probably benign	Het
Magel2	A	T	7: 62,027,486 (GRCm39)	H130L	unknown	Het
Mettl17	A	T	14: 52,126,192 (GRCm39)		probably benign	Het
Mnx1	T	A	5: 29,679,187 (GRCm39)	S299C	unknown	Het
Mov10	A	T	3: 104,725,432 (GRCm39)	I59N	possibly damaging	Het
Myo7b	T	C	18: 32,127,950 (GRCm39)	I581V	probably benign	Het
Ncdn	T	A	4: 126,639,066 (GRCm39)		probably null	Het
Ndufa4	A	T	6: 11,900,574 (GRCm39)	V37E	probably benign	Het
Nhsl1	T	G	10: 18,400,412 (GRCm39)	L546R	probably benign	Het
Nop9	T	C	14: 55,988,599 (GRCm39)	L347P	probably damaging	Het
Nrp1	A	T	8: 129,224,997 (GRCm39)	E782D	probably damaging	Het
Ntrk3	G	A	7: 78,127,683 (GRCm39)		probably benign	Het
Or1j13	A	G	2: 36,370,059 (GRCm39)	S28P	possibly damaging	Het
Or2z8	A	G	8: 72,812,280 (GRCm39)	Y252C	probably damaging	Het
Or8g53	A	T	9: 39,683,791 (GRCm39)	C102S	probably benign	Het
Osbpl6	T	A	2: 76,416,558 (GRCm39)	I546K	probably damaging	Het
Pard6g	T	C	18: 80,160,523 (GRCm39)	V212A	probably damaging	Het
Pknox2	A	G	9: 36,820,980 (GRCm39)	V294A	probably damaging	Het
Plekha1	T	C	7: 130,493,983 (GRCm39)	V106A	probably benign	Het
Plekha6	C	A	1: 133,207,103 (GRCm39)		probably null	Het
Ptgdr	A	T	14: 45,096,036 (GRCm39)	Y225*	probably null	Het
Ptpn22	A	G	3: 103,781,368 (GRCm39)	I90V	probably damaging	Het
Pygb	C	T	2: 150,658,692 (GRCm39)	T372I	probably damaging	Het
Pzp	T	C	6: 128,468,124 (GRCm39)		probably null	Het
Qrich2	C	T	11: 116,332,275 (GRCm39)	G2307D	probably damaging	Het
Rfwd3	A	T	8: 112,024,034 (GRCm39)	V96E	probably benign	Het
Senp1	T	A	15: 97,973,848 (GRCm39)	T132S	probably benign	Het
Slc9a4	T	G	1: 40,646,901 (GRCm39)		probably null	Het
Slfn9	T	A	11: 82,872,133 (GRCm39)	I868F	probably damaging	Het
St3gal6	T	C	16: 58,296,234 (GRCm39)	D137G	probably damaging	Het
Synj1	G	T	16: 90,761,405 (GRCm39)	A687D	probably damaging	Het
Syt4	A	G	18: 31,576,496 (GRCm39)		probably benign	Het
Tacc1	A	T	8: 25,654,509 (GRCm39)	N271K	probably damaging	Het
Tdrd6	T	C	17: 43,935,724 (GRCm39)	T1775A	probably benign	Het
Tecpr1	T	A	5: 144,145,463 (GRCm39)	T595S	probably benign	Het
Tjp3	T	A	10: 81,113,888 (GRCm39)	M457L	possibly damaging	Het
Tmem200a	T	A	10: 25,869,825 (GRCm39)	H148L	probably damaging	Het
Trappc8	A	G	18: 20,967,997 (GRCm39)		probably null	Het
Txk	T	A	5: 72,853,922 (GRCm39)	T472S	probably damaging	Het
Ubr4	T	A	4: 139,151,256 (GRCm39)	M1897K	probably damaging	Het
Uggt2	A	G	14: 119,298,788 (GRCm39)	L391P	probably damaging	Het
Uncx	T	C	5: 139,533,302 (GRCm39)	S456P	probably benign	Het
Vps13b	A	G	15: 35,879,937 (GRCm39)	Y3004C	probably damaging	Het
Vps35l	T	C	7: 118,393,798 (GRCm39)	Y516H	probably damaging	Het
Zbtb46	C	T	2: 181,033,224 (GRCm39)	C479Y	probably damaging	Het
Zdhhc13	T	A	7: 48,474,392 (GRCm39)	L548Q	possibly damaging	Het
Zfp236	T	C	18: 82,639,429 (GRCm39)	M1225V	probably benign	Het
Zfp280d	T	C	9: 72,215,287 (GRCm39)	F133L	probably damaging	Het
Zfp503	A	T	14: 22,035,588 (GRCm39)	C443S	possibly damaging	Het
Zfyve26	T	A	12: 79,315,208 (GRCm39)	I1423F	possibly 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
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
R2399:Zc3h7a	UTSW	16	10,965,265 (GRCm39)	missense	probably damaging	1.00
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'- TCAACACAATGCCGTGCTCC -3'
(R):5'- ACGGCTGCTACAATTGAAAGC -3'

Sequencing Primer
(F):5'- AGTCAGAAGTCTTCGCCACTGAG -3'
(R):5'- GGCTGCTACAATTGAAAGCTACTTG -3'

Posted On

2014-06-23