Mutagenetix > Incidental Mutation

Incidental Mutation 'R7816:Zfp180'

601534

Institutional Source

Beutler Lab

Gene Symbol

Zfp180

Ensembl Gene

ENSMUSG00000057101

Gene Name

zinc finger protein 180

Synonyms

HHZ168, D130011P11, 2310040I01Rik

MMRRC Submission

045870-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R7816 (G1)

Quality Score

151.008

Status

Not validated

Chromosome

Chromosomal Location

23781349-23807138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 23804570 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Cysteine at position 330 (S330C)

Ref Sequence

ENSEMBL: ENSMUSP00000064611 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068975] [ENSMUST00000203854] [ENSMUST00000206184] [ENSMUST00000207002]

AlphaFold

Q6NZI9

Predicted Effect

probably damaging
Transcript: ENSMUST00000068975
AA Change: S330C

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: S330C

Domain	Start	End	E-Value	Type
Blast:KRAB	46	103	7e-14	BLAST
ZnF_C2H2	318	340	3.21e-4	SMART
ZnF_C2H2	346	368	3.39e-3	SMART
ZnF_C2H2	374	396	1.72e-4	SMART
ZnF_C2H2	402	424	4.87e-4	SMART
ZnF_C2H2	430	452	1.58e-3	SMART
ZnF_C2H2	458	480	5.99e-4	SMART
ZnF_C2H2	486	508	2.12e-4	SMART
ZnF_C2H2	514	536	1.6e-4	SMART
ZnF_C2H2	542	564	3.95e-4	SMART
ZnF_C2H2	570	592	5.9e-3	SMART
ZnF_C2H2	598	620	1.12e-3	SMART
ZnF_C2H2	626	648	4.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000203854

SMART Domains

Protein: ENSMUSP00000145165
Gene: ENSMUSG00000057101

Domain	Start	End	E-Value	Type
Blast:KRAB	12	69	4e-14	BLAST
ZnF_C2H2	284	306	3.21e-4	SMART
ZnF_C2H2	312	334	3.39e-3	SMART
ZnF_C2H2	340	362	1.72e-4	SMART
ZnF_C2H2	368	390	4.87e-4	SMART
ZnF_C2H2	396	418	1.58e-3	SMART
ZnF_C2H2	424	446	5.99e-4	SMART
ZnF_C2H2	452	474	2.12e-4	SMART
ZnF_C2H2	480	502	1.6e-4	SMART
ZnF_C2H2	508	530	3.95e-4	SMART
ZnF_C2H2	536	558	5.9e-3	SMART
ZnF_C2H2	564	586	1.12e-3	SMART
ZnF_C2H2	592	614	4.11e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206184

Predicted Effect

probably benign
Transcript: ENSMUST00000207002

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Zinc finger proteins have been shown to interact with nucleic acids and to have diverse functions. The zinc finger domain is a conserved amino acid sequence motif containing 2 specifically positioned cysteines and 2 histidines that are involved in coordinating zinc. Kruppel-related proteins form 1 family of zinc finger proteins. See MIM 604749 for additional information on zinc finger proteins.[supplied by OMIM, Jul 2002]

Allele List at MGI

Other mutations in this stock

Total: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	A	G	1: 71,331,588 (GRCm39)	S1321P	probably benign	Het
Abcb1a	T	C	5: 8,736,132 (GRCm39)	V175A	possibly damaging	Het
Adamts20	T	A	15: 94,220,725 (GRCm39)	M1403L	probably benign	Het
Akap13	G	A	7: 75,380,213 (GRCm39)	R462H	probably damaging	Het
Amotl2	T	A	9: 102,608,853 (GRCm39)	I789K	probably benign	Het
BC005537	C	T	13: 24,987,382 (GRCm39)	R7W	possibly damaging	Het
Bcar3	C	T	3: 122,220,343 (GRCm39)	T80I	probably benign	Het
Bcas1	G	T	2: 170,248,347 (GRCm39)	F181L	probably benign	Het
Cacnb1	T	C	11: 97,896,115 (GRCm39)	E389G	probably damaging	Het
Cd52	A	T	4: 133,821,199 (GRCm39)		probably benign	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 105,036,102 (GRCm39)		probably benign	Het
Coro2a	T	C	4: 46,546,809 (GRCm39)	D182G	probably benign	Het
Crp	T	C	1: 172,526,277 (GRCm39)	S121P	possibly damaging	Het
Csnka2ip	T	C	16: 64,299,852 (GRCm39)		probably benign	Het
Cttnbp2	T	C	6: 18,448,413 (GRCm39)	D82G	probably damaging	Het
Cyp2b9	A	G	7: 25,900,517 (GRCm39)	N385S	probably benign	Het
Dppa1	A	G	11: 46,507,003 (GRCm39)	S26P	possibly damaging	Het
Eif4e3	T	C	6: 99,617,599 (GRCm39)	R91G	probably damaging	Het
F13a1	A	T	13: 37,209,745 (GRCm39)	N73K	probably benign	Het
Fbxl13	T	C	5: 21,748,785 (GRCm39)	Y378C	probably benign	Het
Glis2	G	A	16: 4,431,328 (GRCm39)	R285H	probably damaging	Het
Gm17174	T	A	14: 51,829,569 (GRCm39)		probably benign	Het
Golga1	G	A	2: 38,942,110 (GRCm39)	S102F	probably damaging	Het
Hdac1	A	T	4: 129,411,888 (GRCm39)	Y336N	probably damaging	Het
Hfe	G	T	13: 23,888,382 (GRCm39)	T168K	possibly damaging	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Ighv1-56	T	C	12: 115,206,846 (GRCm39)	S4G	probably benign	Het
Ino80d	A	G	1: 63,125,556 (GRCm39)	Y74H	probably damaging	Het
Ints1	A	T	5: 139,757,134 (GRCm39)	H427Q	possibly damaging	Het
Itpkb	T	A	1: 180,241,454 (GRCm39)	V708E	probably damaging	Het
Jmjd4	G	T	11: 59,341,162 (GRCm39)	G31V	probably benign	Het
Kcnh5	C	T	12: 75,023,457 (GRCm39)	C537Y	probably damaging	Het
Kcnj11	A	T	7: 45,749,281 (GRCm39)	L14Q	probably damaging	Het
Lipo4	A	T	19: 33,491,642 (GRCm39)	W114R	probably damaging	Het
Lrrc9	T	A	12: 72,542,466 (GRCm39)	I1096N	probably damaging	Het
Lyzl6	C	T	11: 103,527,680 (GRCm39)	V15I	probably benign	Het
Map4k4	A	G	1: 40,053,368 (GRCm39)	T856A	possibly damaging	Het
Mks1	T	A	11: 87,751,542 (GRCm39)	W346R	probably damaging	Het
Mtmr14	T	C	6: 113,243,263 (GRCm39)	Y32H	probably damaging	Het
Muc13	A	G	16: 33,619,386 (GRCm39)	S45G	unknown	Het
Mx2	G	A	16: 97,346,812 (GRCm39)	G93D	probably damaging	Het
Noc4l	A	T	5: 110,797,539 (GRCm39)	V365E	probably benign	Het
Odf2l	T	C	3: 144,856,776 (GRCm39)	I577T	probably damaging	Het
Or4l1	T	C	14: 50,166,622 (GRCm39)	I126M	probably damaging	Het
Peg10	C	CTCT	6: 4,756,453 (GRCm39)		probably benign	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 110,350,827 (GRCm39)		probably benign	Het
Pnoc	A	T	14: 65,639,307 (GRCm39)	I186N	possibly damaging	Het
Pou4f3	A	G	18: 42,528,251 (GRCm39)	I65V	probably benign	Het
Pramel23	G	T	4: 143,424,764 (GRCm39)	N226K	probably benign	Het
Prss1l	T	C	6: 41,371,707 (GRCm39)	L51P	probably damaging	Het
Ptpn21	G	A	12: 98,648,791 (GRCm39)	A955V	probably damaging	Het
Rabgap1	G	T	2: 37,453,476 (GRCm39)	R968L	probably benign	Het
Rarres1	T	C	3: 67,386,677 (GRCm39)	N282S	probably damaging	Het
Rgs17	T	C	10: 5,791,501 (GRCm39)	N72S	probably benign	Het
Rp1	T	A	1: 4,417,926 (GRCm39)	N1062I	probably damaging	Het
Rpn1	T	A	6: 88,080,378 (GRCm39)	V559D	possibly damaging	Het
Rrbp1	A	T	2: 143,830,855 (GRCm39)	N437K	probably damaging	Het
Rtn4r	C	A	16: 17,969,399 (GRCm39)	Q276K	probably benign	Het
Rwdd4a	T	C	8: 47,990,335 (GRCm39)	S16P	probably damaging	Het
S1pr1	A	G	3: 115,505,947 (GRCm39)	S216P	possibly damaging	Het
Scn8a	C	A	15: 100,908,917 (GRCm39)	T795K	possibly damaging	Het
Spryd3	A	C	15: 102,026,141 (GRCm39)	F401C	probably damaging	Het
Stk36	G	T	1: 74,650,328 (GRCm39)	E287*	probably null	Het
Tbc1d1	G	T	5: 64,507,095 (GRCm39)	S1104I	probably damaging	Het
Tex15	A	G	8: 34,071,683 (GRCm39)	D2410G	probably benign	Het
Tmem92	T	A	11: 94,669,784 (GRCm39)	I116F	possibly damaging	Het
Trp53bp2	A	G	1: 182,276,260 (GRCm39)	E747G	probably damaging	Het
Trp63	A	T	16: 25,707,990 (GRCm39)	D562V	probably damaging	Het
Ttc21b	A	G	2: 66,077,705 (GRCm39)	Y167H	possibly damaging	Het
Ubr5	G	A	15: 37,980,076 (GRCm39)	A2434V	probably null	Het
Uggt1	G	A	1: 36,202,396 (GRCm39)	S1067F	possibly damaging	Het
Vmn2r103	T	A	17: 20,014,476 (GRCm39)	Y423N	probably benign	Het
Vmn2r111	A	G	17: 22,792,083 (GRCm39)	Y58H	probably damaging	Het
Ypel3	T	A	7: 126,377,013 (GRCm39)	V2E	probably damaging	Het
Ythdf3	T	C	3: 16,243,681 (GRCm39)	V34A	probably damaging	Het
Zfp292	G	A	4: 34,809,865 (GRCm39)	P1060S	probably benign	Het
Zfp354c	TCACACTCGGCACA	TCACA	11: 50,706,067 (GRCm39)		probably benign	Het
Zfp981	C	T	4: 146,622,100 (GRCm39)	R342C	probably benign	Het

Other mutations in Zfp180

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00337:Zfp180	APN	7	23,784,894 (GRCm39)	missense	probably damaging	0.98
IGL00990:Zfp180	APN	7	23,803,841 (GRCm39)	missense	possibly damaging	0.83
IGL00990:Zfp180	APN	7	23,804,255 (GRCm39)	missense	probably benign	0.42
IGL00990:Zfp180	APN	7	23,804,420 (GRCm39)	missense	possibly damaging	0.60
IGL01061:Zfp180	APN	7	23,804,170 (GRCm39)	missense	possibly damaging	0.50
IGL01328:Zfp180	APN	7	23,800,904 (GRCm39)	missense	probably benign	0.01
IGL03134:Zfp180	UTSW	7	23,804,170 (GRCm39)	missense	possibly damaging	0.50
R0137:Zfp180	UTSW	7	23,805,158 (GRCm39)	missense	possibly damaging	0.93
R0390:Zfp180	UTSW	7	23,804,132 (GRCm39)	missense	possibly damaging	0.95
R1451:Zfp180	UTSW	7	23,804,643 (GRCm39)	missense	probably benign	0.00
R1534:Zfp180	UTSW	7	23,800,948 (GRCm39)	missense	probably benign	0.31
R1555:Zfp180	UTSW	7	23,800,999 (GRCm39)	intron	probably benign
R1577:Zfp180	UTSW	7	23,805,333 (GRCm39)	missense	probably damaging	1.00
R1605:Zfp180	UTSW	7	23,804,049 (GRCm39)	missense	probably benign	0.00
R1633:Zfp180	UTSW	7	23,804,226 (GRCm39)	missense	probably benign	0.07
R1817:Zfp180	UTSW	7	23,804,652 (GRCm39)	missense	probably damaging	1.00
R2012:Zfp180	UTSW	7	23,803,943 (GRCm39)	missense	probably benign	0.01
R2076:Zfp180	UTSW	7	23,804,528 (GRCm39)	missense	probably damaging	1.00
R2151:Zfp180	UTSW	7	23,804,685 (GRCm39)	missense	probably damaging	1.00
R2262:Zfp180	UTSW	7	23,804,049 (GRCm39)	missense	probably benign	0.32
R3081:Zfp180	UTSW	7	23,804,928 (GRCm39)	missense	probably damaging	1.00
R3402:Zfp180	UTSW	7	23,805,170 (GRCm39)	missense	probably benign	0.30
R4551:Zfp180	UTSW	7	23,803,998 (GRCm39)	missense	possibly damaging	0.87
R4747:Zfp180	UTSW	7	23,805,246 (GRCm39)	missense	probably damaging	1.00
R4983:Zfp180	UTSW	7	23,805,503 (GRCm39)	missense	probably damaging	0.98
R5610:Zfp180	UTSW	7	23,804,315 (GRCm39)	missense	probably benign	0.00
R5764:Zfp180	UTSW	7	23,800,909 (GRCm39)	missense	possibly damaging	0.71
R5987:Zfp180	UTSW	7	23,804,859 (GRCm39)	missense	probably damaging	1.00
R6207:Zfp180	UTSW	7	23,804,510 (GRCm39)	nonsense	probably null
R6247:Zfp180	UTSW	7	23,804,530 (GRCm39)	missense	probably damaging	1.00
R6328:Zfp180	UTSW	7	23,804,981 (GRCm39)	missense	probably damaging	1.00
R6708:Zfp180	UTSW	7	23,805,521 (GRCm39)	missense	probably damaging	0.98
R6814:Zfp180	UTSW	7	23,805,306 (GRCm39)	missense	probably damaging	1.00
R6872:Zfp180	UTSW	7	23,805,306 (GRCm39)	missense	probably damaging	1.00
R7006:Zfp180	UTSW	7	23,804,537 (GRCm39)	nonsense	probably null
R7084:Zfp180	UTSW	7	23,804,686 (GRCm39)	missense	probably damaging	1.00
R7101:Zfp180	UTSW	7	23,803,958 (GRCm39)	missense	probably benign	0.00
R7213:Zfp180	UTSW	7	23,803,938 (GRCm39)	missense	possibly damaging	0.87
R7263:Zfp180	UTSW	7	23,805,125 (GRCm39)	nonsense	probably null
R7360:Zfp180	UTSW	7	23,804,915 (GRCm39)	missense	probably damaging	1.00
R7487:Zfp180	UTSW	7	23,805,525 (GRCm39)	missense	probably damaging	1.00
R7766:Zfp180	UTSW	7	23,804,084 (GRCm39)	missense	probably benign	0.37
R8086:Zfp180	UTSW	7	23,805,535 (GRCm39)	missense	probably benign
R8359:Zfp180	UTSW	7	23,804,337 (GRCm39)	missense	probably benign
R8747:Zfp180	UTSW	7	23,804,687 (GRCm39)	missense	possibly damaging	0.54
R8768:Zfp180	UTSW	7	23,805,161 (GRCm39)	missense	probably damaging	1.00
R8967:Zfp180	UTSW	7	23,804,726 (GRCm39)	missense	probably damaging	1.00
R9045:Zfp180	UTSW	7	23,804,315 (GRCm39)	missense	probably benign	0.01
R9460:Zfp180	UTSW	7	23,804,399 (GRCm39)	missense	probably damaging	1.00
R9480:Zfp180	UTSW	7	23,804,628 (GRCm39)	missense	probably benign	0.20
V5622:Zfp180	UTSW	7	23,781,456 (GRCm39)	start gained	probably benign
X0067:Zfp180	UTSW	7	23,804,897 (GRCm39)	missense	probably damaging	1.00
Z1177:Zfp180	UTSW	7	23,805,296 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GGCAAGTTTTAAACCATAGCGTG -3'
(R):5'- AGTTTGTAGCTCTGGCGGAAC -3'

Sequencing Primer
(F):5'- CATAGCGTGGTCCTCGGTG -3'
(R):5'- GTGAGTTCTCTGATGCACCACAAG -3'

Posted On

2019-12-03