Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Zc3h7a'

541910

Institutional Source

Beutler Lab

Gene Symbol

Zc3h7a

Ensembl Gene

ENSMUSG00000037965

Gene Name

zinc finger CCCH type containing 7 A

Synonyms

Zc3h7, A430104C18Rik

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.122) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

11136592-11176393 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 11149224 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 568 (T568I)

Ref Sequence

ENSEMBL: ENSMUSP00000114246 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000037633
AA Change: T568I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041308
Gene: ENSMUSG00000037965
AA Change: T568I

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 benign
Transcript: ENSMUST00000128083
AA Change: T568I

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

SMART Domains

Protein: ENSMUSP00000114246
Gene: ENSMUSG00000037965
AA Change: T568I

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 benign
Transcript: ENSMUST00000138185
AA Change: T568I

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000119480
Gene: ENSMUSG00000037965
AA Change: T568I

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

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

probably benign
Transcript: ENSMUST00000140898

SMART Domains

Protein: ENSMUSP00000118771
Gene: ENSMUSG00000037965

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 98,065,759	Y334*	probably null	Het
Abcc2	A	C	19: 43,798,076	I116L	probably benign	Het
Adamts17	T	A	7: 66,909,400	Y313N	possibly damaging	Het
Adamts17	A	G	7: 67,004,353	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,156,854	I153V	probably damaging	Het
Ambra1	C	T	2: 91,917,416	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,099,265	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,369,456		probably null	Het
C4bp	A	T	1: 130,657,272	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,459	V344G	probably damaging	Het
Car7	A	G	8: 104,543,581	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,100	H157Q	probably null	Het
Chst11	C	T	10: 83,191,381	T214I	probably damaging	Het
Cntrob	G	A	11: 69,309,491	R526*	probably null	Het
Cul1	A	G	6: 47,516,509	T445A	probably benign	Het
Dclre1c	T	C	2: 3,453,169	V363A	possibly damaging	Het
Ddx58	A	G	4: 40,225,697	S235P	probably benign	Het
Dock10	T	A	1: 80,503,648		probably benign	Het
Donson	A	G	16: 91,681,219	Y465H	probably benign	Het
Eif3e	G	A	15: 43,272,289	A118V	probably benign	Het
Fam47e	A	T	5: 92,566,052	Q180L	probably damaging	Het
Fat1	T	G	8: 45,043,945	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,465,142	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,305,197	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,960,660	A71V	probably damaging	Het
Gfap	G	A	11: 102,896,957	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,957,497	M175I	probably benign	Het
Gm10645	C	T	8: 83,165,952		probably benign	Het
Haus5	G	A	7: 30,657,615	P464S	probably benign	Het
Helz2	T	A	2: 181,230,428	I2584F	probably damaging	Het
Mak	T	A	13: 41,032,591	I534L	probably benign	Het
Map3k9	T	C	12: 81,773,003	D159G	probably benign	Het
Mcat	A	G	15: 83,547,931		probably benign	Het
Meltf	A	G	16: 31,880,162	D30G	probably benign	Het
Ntng2	T	A	2: 29,197,029	Y452F	probably benign	Het
Olfr1130	T	C	2: 87,607,613	L75P	probably damaging	Het
Olfr1245	T	A	2: 89,574,989	I246F	probably benign	Het
Olfr1474	T	A	19: 13,471,361	Y130*	probably null	Het
Olfr473	A	T	7: 107,933,759	I80L	probably benign	Het
Paip1	C	T	13: 119,450,770	T390I	possibly damaging	Het
Pianp	T	A	6: 124,999,390	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,260,649	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,600,531	V268A	probably benign	Het
Rhoj	T	A	12: 75,375,389	Y74N	probably damaging	Het
Snx13	A	C	12: 35,119,789	T578P	possibly damaging	Het
Star	T	A	8: 25,811,823	H227Q	probably benign	Het
Stau2	A	C	1: 16,390,005	M204R	probably damaging	Het
Steap4	A	G	5: 7,975,568	Y43C	probably damaging	Het
Syt8	A	G	7: 142,439,421	E21G	probably benign	Het
Tacr3	T	C	3: 134,829,739	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,423	T199M	probably benign	Het
Tmem131	T	C	1: 36,796,292	T1583A	probably damaging	Het
Tom1	G	A	8: 75,051,965	V87I	probably null	Het
Treml4	G	T	17: 48,272,819		probably null	Het
Ttn	T	C	2: 76,714,113	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,581,850	C223W	probably damaging	Het
Wipi1	C	T	11: 109,603,764	R81Q	probably benign	Het
Zfp287	A	T	11: 62,724,817	I228N	probably damaging	Het
Zfp606	T	A	7: 12,489,592	V10E	probably damaging	Het

Other mutations in Zc3h7a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00515:Zc3h7a	APN	16	11137338	missense	probably damaging	0.98
IGL00908:Zc3h7a	APN	16	11145242	missense	probably damaging	0.99
IGL01087:Zc3h7a	APN	16	11153182	missense	probably benign	0.28
IGL01285:Zc3h7a	APN	16	11139115	missense	probably damaging	1.00
IGL01453:Zc3h7a	APN	16	11149378	missense	probably benign	0.00
IGL01639:Zc3h7a	APN	16	11141708	missense	possibly damaging	0.75
IGL01716:Zc3h7a	APN	16	11145716	missense	probably damaging	1.00
IGL02059:Zc3h7a	APN	16	11160998	unclassified	probably benign
IGL02170:Zc3h7a	APN	16	11146395	missense	probably benign
IGL02256:Zc3h7a	APN	16	11147276	missense	probably benign	0.04
IGL02904:Zc3h7a	APN	16	11150666	missense	probably damaging	1.00
IGL02941:Zc3h7a	APN	16	11158594	critical splice acceptor site	probably null
IGL03198:Zc3h7a	APN	16	11162664	nonsense	probably null
IGL03201:Zc3h7a	APN	16	11156302	critical splice acceptor site	probably null
IGL03302:Zc3h7a	APN	16	11141710	missense	probably damaging	1.00
agreement	UTSW	16	11153161	missense	probably benign	0.02
Clement	UTSW	16	11164602	nonsense	probably null
consensus	UTSW	16	11161026	missense	probably damaging	1.00
R0062:Zc3h7a	UTSW	16	11139147	missense	probably damaging	1.00
R0255:Zc3h7a	UTSW	16	11140737	missense	probably damaging	1.00
R0376:Zc3h7a	UTSW	16	11156202	missense	probably benign	0.00
R0545:Zc3h7a	UTSW	16	11152333	unclassified	probably benign
R0666:Zc3h7a	UTSW	16	11156303	unclassified	probably benign
R0831:Zc3h7a	UTSW	16	11151880	missense	probably damaging	0.99
R1127:Zc3h7a	UTSW	16	11139075	missense	probably damaging	1.00
R1296:Zc3h7a	UTSW	16	11161026	missense	probably damaging	1.00
R1472:Zc3h7a	UTSW	16	11161026	missense	probably damaging	1.00
R1499:Zc3h7a	UTSW	16	11162656	missense	probably damaging	1.00
R1747:Zc3h7a	UTSW	16	11145253	missense	possibly damaging	0.67
R1786:Zc3h7a	UTSW	16	11150605	nonsense	probably null
R1840:Zc3h7a	UTSW	16	11161026	missense	probably damaging	1.00
R1866:Zc3h7a	UTSW	16	11147304	missense	possibly damaging	0.81
R2055:Zc3h7a	UTSW	16	11137476	missense	probably benign	0.00
R2131:Zc3h7a	UTSW	16	11150605	nonsense	probably null
R2281:Zc3h7a	UTSW	16	11158594	unclassified	probably benign
R2399:Zc3h7a	UTSW	16	11147401	missense	probably damaging	1.00
R2979:Zc3h7a	UTSW	16	11158973	missense	probably damaging	1.00
R3915:Zc3h7a	UTSW	16	11156210	missense	possibly damaging	0.92
R4078:Zc3h7a	UTSW	16	11151147	missense	probably benign	0.05
R4095:Zc3h7a	UTSW	16	11145235	missense	probably damaging	1.00
R4208:Zc3h7a	UTSW	16	11164644	missense	possibly damaging	0.60
R4444:Zc3h7a	UTSW	16	11150593	critical splice donor site	probably null
R4739:Zc3h7a	UTSW	16	11141709	missense	probably damaging	1.00
R5059:Zc3h7a	UTSW	16	11161121	frame shift	probably null
R5545:Zc3h7a	UTSW	16	11148451	missense	possibly damaging	0.89
R5815:Zc3h7a	UTSW	16	11156186	missense	probably damaging	0.98
R5915:Zc3h7a	UTSW	16	11164602	nonsense	probably null
R5993:Zc3h7a	UTSW	16	11150662	missense	probably damaging	1.00
R6183:Zc3h7a	UTSW	16	11147370	missense	possibly damaging	0.81
R6459:Zc3h7a	UTSW	16	11153161	missense	probably damaging	1.00
R6513:Zc3h7a	UTSW	16	11158765	critical splice acceptor site	probably null
R6700:Zc3h7a	UTSW	16	11158967	missense	possibly damaging	0.59
R6904:Zc3h7a	UTSW	16	11145671	missense	probably damaging	1.00
R7354:Zc3h7a	UTSW	16	11148514	missense	probably damaging	1.00
R7667:Zc3h7a	UTSW	16	11139026	nonsense	probably null
R7742:Zc3h7a	UTSW	16	11153161	missense	probably benign	0.02
R7780:Zc3h7a	UTSW	16	11149251	missense	probably benign	0.26
R8228:Zc3h7a	UTSW	16	11139090	missense	probably damaging	1.00
R8302:Zc3h7a	UTSW	16	11137385	missense	probably damaging	1.00
R8309:Zc3h7a	UTSW	16	11146553	intron	probably benign
R8795:Zc3h7a	UTSW	16	11147283	missense	possibly damaging	0.65
R9060:Zc3h7a	UTSW	16	11151183	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TATACACGCTGCTCTGCTTG -3'
(R):5'- GATGAATGCCGATATCCTGGCC -3'

Sequencing Primer
(F):5'- TTGTAGGCATGTACCACCAG -3'
(R):5'- GATATCCTGGCCACTGTACATTTG -3'

Posted On

2018-11-28