Mutagenetix > Incidental Mutation

Incidental Mutation 'R1866:Zc3h7a'

208767

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7a

Ensembl Gene

ENSMUSG00000037965

Gene Name

zinc finger CCCH type containing 7 A

Synonyms

A430104C18Rik, Zc3h7

MMRRC Submission

039889-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R1866 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

10954458-10994257 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 10965168 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 655 (I655T)

Ref Sequence

ENSEMBL: ENSMUSP00000041308 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037633
AA Change: I655T

PolyPhen 2 Score 0.815 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: I655T

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

possibly damaging
Transcript: ENSMUST00000138185
AA Change: I655T

PolyPhen 2 Score 0.702 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: I655T

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: I71T

SMART Domains

Protein: ENSMUSP00000118771
Gene: ENSMUSG00000037965
AA Change: I71T

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: ENSMUST00000143926

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000155340

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.3%
20x: 92.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Apba1	A	T	19: 23,870,195 (GRCm39)	E9V	probably benign	Het
Armc8	T	A	9: 99,418,333 (GRCm39)	T32S	probably benign	Het
Atr	T	A	9: 95,752,658 (GRCm39)		probably null	Het
Blm	A	G	7: 80,143,862 (GRCm39)	L859P	probably benign	Het
Cacna2d3	A	T	14: 28,691,171 (GRCm39)	F51L	probably damaging	Het
Cdcp2	A	G	4: 106,964,197 (GRCm39)	N349S	probably damaging	Het
Cfap57	G	A	4: 118,457,124 (GRCm39)	H442Y	possibly damaging	Het
Chrm3	A	G	13: 9,928,517 (GRCm39)	L173P	probably damaging	Het
Cpb1	C	G	3: 20,317,920 (GRCm39)	M201I	probably benign	Het
Dgcr8	A	T	16: 18,076,178 (GRCm39)	N2K	probably damaging	Het
Dnah3	A	T	7: 119,528,079 (GRCm39)		probably null	Het
Dnah6	T	A	6: 73,077,071 (GRCm39)	Q2398L	probably benign	Het
Dpep2	A	T	8: 106,716,080 (GRCm39)		probably null	Het
Eif2ak4	C	A	2: 118,303,142 (GRCm39)	T1504K	probably damaging	Het
Exoc6b	A	G	6: 84,828,896 (GRCm39)	V496A	probably damaging	Het
Fam174a	A	C	1: 95,241,620 (GRCm39)	S27R	probably benign	Het
Fat2	T	A	11: 55,182,840 (GRCm39)	Q1339L	probably benign	Het
Fkbpl	T	A	17: 34,864,797 (GRCm39)	D188E	possibly damaging	Het
Focad	A	G	4: 88,325,402 (GRCm39)	D89G	possibly damaging	Het
Fstl4	C	A	11: 53,077,225 (GRCm39)	Q661K	probably benign	Het
Gck	T	C	11: 5,853,253 (GRCm39)	Y289C	probably benign	Het
Gm16181	T	A	17: 35,442,913 (GRCm39)		probably benign	Het
Herc1	G	A	9: 66,358,073 (GRCm39)	G2385S	probably damaging	Het
Igfn1	T	C	1: 135,902,606 (GRCm39)		probably null	Het
Il12b	T	C	11: 44,299,353 (GRCm39)	W141R	probably damaging	Het
Itga6	T	A	2: 71,664,414 (GRCm39)	S517T	probably benign	Het
Kank1	A	G	19: 25,388,813 (GRCm39)	S801G	probably benign	Het
Klrh1	A	G	6: 129,752,343 (GRCm39)		probably null	Het
Lctl	A	G	9: 64,039,003 (GRCm39)	D205G	probably damaging	Het
Lhx3	A	C	2: 26,093,986 (GRCm39)	V79G	probably damaging	Het
Lrrc9	T	C	12: 72,543,912 (GRCm39)	I1127T	probably damaging	Het
Ltbp3	A	T	19: 5,797,877 (GRCm39)	E505D	probably benign	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Map6	A	G	7: 98,965,083 (GRCm39)	S291G	probably damaging	Het
Mapk7	A	G	11: 61,380,239 (GRCm39)	F671L	probably benign	Het
Mau2	A	G	8: 70,484,142 (GRCm39)	W149R	probably damaging	Het
Mb21d2	C	T	16: 28,647,267 (GRCm39)	V236I	possibly damaging	Het
Mc5r	C	G	18: 68,471,741 (GRCm39)		probably null	Het
Mical1	C	A	10: 41,361,466 (GRCm39)	P797Q	probably benign	Het
Mnx1	G	A	5: 29,679,043 (GRCm39)	R347C	unknown	Het
Mslnl	G	A	17: 25,961,908 (GRCm39)	V128M	probably damaging	Het
Nlrp2	G	T	7: 5,330,715 (GRCm39)	C560*	probably null	Het
Npat	T	A	9: 53,474,416 (GRCm39)	L736H	probably damaging	Het
Nup155	T	A	15: 8,145,010 (GRCm39)	V147E	probably damaging	Het
Nxpe2	A	G	9: 48,238,121 (GRCm39)	F45L	probably benign	Het
Obscn	T	C	11: 58,951,741 (GRCm39)	D4370G	probably benign	Het
Or2d3b	A	G	7: 106,514,273 (GRCm39)	I289M	probably damaging	Het
Or4a79	T	C	2: 89,551,550 (GRCm39)	K302E	probably benign	Het
Or4c35	T	C	2: 89,808,671 (GRCm39)	L183S	probably damaging	Het
Or4d10	A	G	19: 12,051,183 (GRCm39)	V271A	probably benign	Het
Or52n4	A	G	7: 104,294,004 (GRCm39)	S190P	probably benign	Het
Or5g23	T	A	2: 85,439,188 (GRCm39)	H22L	probably benign	Het
Or8k3	A	C	2: 86,059,072 (GRCm39)	M81R	probably damaging	Het
Pcx	T	C	19: 4,671,249 (GRCm39)	I1157T	possibly damaging	Het
Pias2	T	A	18: 77,240,412 (GRCm39)	S589R	probably benign	Het
Plcb1	T	C	2: 135,186,093 (GRCm39)	F687L	probably benign	Het
Plk5	G	T	10: 80,196,403 (GRCm39)		probably null	Het
Pnpla2	T	A	7: 141,035,329 (GRCm39)	Y44N	probably damaging	Het
Ppp1r12a	T	A	10: 108,098,292 (GRCm39)	D337E	possibly damaging	Het
Prl2c5	G	T	13: 13,365,358 (GRCm39)		probably null	Het
Prom2	T	C	2: 127,378,514 (GRCm39)	D460G	probably damaging	Het
Pros1	A	G	16: 62,748,498 (GRCm39)	H657R	possibly damaging	Het
Prune2	A	G	19: 17,100,856 (GRCm39)	E2120G	probably damaging	Het
Rap2a	T	A	14: 120,716,347 (GRCm39)	L70Q	probably damaging	Het
Rbl2	A	T	8: 91,839,157 (GRCm39)	E858D	probably benign	Het
Rbm48	T	C	5: 3,645,997 (GRCm39)	Y69C	probably damaging	Het
Rgs12	T	A	5: 35,123,018 (GRCm39)	I267N	probably damaging	Het
Rpusd2	G	T	2: 118,865,728 (GRCm39)	A142S	probably benign	Het
Rspo2	A	T	15: 42,939,332 (GRCm39)	W153R	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Serinc5	T	A	13: 92,842,771 (GRCm39)	M407K	probably damaging	Het
Slain2	T	C	5: 73,114,665 (GRCm39)	S299P	probably damaging	Het
Slc17a4	A	G	13: 24,084,528 (GRCm39)	Y419H	possibly damaging	Het
Slc1a6	T	A	10: 78,627,183 (GRCm39)	D173E	probably damaging	Het
Slc22a19	A	T	19: 7,688,506 (GRCm39)	I18N	probably damaging	Het
Slc37a3	A	T	6: 39,336,902 (GRCm39)	F91L	probably damaging	Het
Spag5	C	A	11: 78,195,281 (GRCm39)	T196K	possibly damaging	Het
Susd2	G	T	10: 75,475,566 (GRCm39)	A326D	probably damaging	Het
Syna	G	T	5: 134,588,769 (GRCm39)	A60D	probably damaging	Het
Tchh	A	T	3: 93,355,067 (GRCm39)	E1502D	unknown	Het
Tecta	T	C	9: 42,303,320 (GRCm39)	H104R	probably damaging	Het
Tmed1	T	C	9: 21,420,387 (GRCm39)	D102G	probably damaging	Het
Trip12	T	C	1: 84,722,781 (GRCm39)	D128G	probably damaging	Het
Uroc1	A	G	6: 90,338,506 (GRCm39)	M656V	probably benign	Het
Usp47	T	A	7: 111,701,077 (GRCm39)	V1096D	possibly damaging	Het
Utp20	T	A	10: 88,598,632 (GRCm39)	K115*	probably null	Het
Vmn2r19	G	T	6: 123,308,597 (GRCm39)		probably null	Het
Vmn2r86	A	T	10: 130,282,255 (GRCm39)	V787D	probably damaging	Het
Vmn2r87	A	T	10: 130,308,441 (GRCm39)	I599N	possibly damaging	Het
Vwf	A	G	6: 125,644,492 (GRCm39)	D2449G	possibly damaging	Het
Zbtb7c	T	A	18: 76,269,977 (GRCm39)	C22S	probably benign	Het
Zfp764l1	A	G	7: 126,992,503 (GRCm39)	W36R	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
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'- GAGGGATGGAACTGCATACTTAC -3'
(R):5'- TCAAAGTTGGCAGAGCAGTCAG -3'

Sequencing Primer
(F):5'- AACTCAGGTCAGCATGCTTG -3'
(R):5'- TTGGCAGAGCAGTCAGTATTAAAATG -3'

Posted On

2014-06-30