Mutagenetix > Incidental Mutation

Incidental Mutation 'R7213:Zfp180'

561207

Institutional Source

Beutler Lab

Gene Symbol

Zfp180

Ensembl Gene

ENSMUSG00000057101

Gene Name

zinc finger protein 180

Synonyms

HHZ168, D130011P11, 2310040I01Rik

MMRRC Submission

045341-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.582) question?

Stock #

R7213 (G1)

Quality Score

179.009

Status

Validated

Chromosome

Chromosomal Location

23781349-23807138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 23803938 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Leucine at position 119 (W119L)

Ref Sequence

ENSEMBL: ENSMUSP00000064611 (fasta)

Gene Model

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

AlphaFold

Q6NZI9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068975
AA Change: W119L

PolyPhen 2 Score 0.871 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000064611
Gene: ENSMUSG00000057101
AA Change: W119L

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: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

99% (80/81)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010315B03Rik	G	T	9: 124,056,530 (GRCm39)	Y131*	probably null	Het
2310009B15Rik	A	T	1: 138,781,367 (GRCm39)	V94D	probably damaging	Het
Actr1b	T	A	1: 36,741,221 (GRCm39)	N120I	probably damaging	Het
Adam17	A	T	12: 21,386,679 (GRCm39)	Y452*	probably null	Het
Adam19	A	T	11: 46,012,298 (GRCm39)	T265S	probably benign	Het
Adgrb1	A	G	15: 74,441,733 (GRCm39)	T945A	probably benign	Het
Bpifa5	G	A	2: 154,007,903 (GRCm39)	V182M	possibly damaging	Het
Celsr3	C	T	9: 108,726,239 (GRCm39)	T3156I	probably damaging	Het
Cntrl	A	G	2: 35,025,692 (GRCm39)	M674V	possibly damaging	Het
Cry2	C	T	2: 92,244,004 (GRCm39)	V390I	probably benign	Het
Cspg4b	T	A	13: 113,454,475 (GRCm39)	F174I		Het
Cwc25	G	T	11: 97,644,855 (GRCm39)	Q168K	probably benign	Het
Dcbld2	C	T	16: 58,271,126 (GRCm39)	A301V	probably benign	Het
Dclre1a	T	C	19: 56,518,067 (GRCm39)	Y1004C	probably damaging	Het
Ddhd1	A	C	14: 45,895,210 (GRCm39)	S87A	probably benign	Het
Ear1	A	G	14: 44,056,611 (GRCm39)	C86R	probably damaging	Het
Epha5	T	C	5: 84,381,782 (GRCm39)		probably null	Het
Fat2	A	T	11: 55,171,871 (GRCm39)	Y2947*	probably null	Het
Fat4	G	A	3: 39,053,236 (GRCm39)	V4077M	possibly damaging	Het
Fbxl12	A	T	9: 20,550,304 (GRCm39)	V140E	probably damaging	Het
Fbxo16	A	G	14: 65,536,868 (GRCm39)		probably null	Het
Fto	A	T	8: 92,118,135 (GRCm39)	Q29L	probably benign	Het
Gk5	C	T	9: 96,027,765 (GRCm39)	T200M	probably damaging	Het
Gm5916	C	T	9: 36,039,946 (GRCm39)	G14E	possibly damaging	Het
Gm9972	A	T	11: 42,927,235 (GRCm39)		probably benign	Het
Gpr139	T	A	7: 118,744,322 (GRCm39)	M88L	probably benign	Het
Gpr26	T	C	7: 131,569,219 (GRCm39)	L188P	probably damaging	Het
H2ac4	G	T	13: 23,935,146 (GRCm39)	A11S	unknown	Het
Hbp1	A	T	12: 31,987,196 (GRCm39)	S219T	probably benign	Het
Hr	A	T	14: 70,795,790 (GRCm39)	E445V	probably damaging	Het
Il12rb1	A	G	8: 71,269,097 (GRCm39)	K426E	probably benign	Het
Itgbl1	G	A	14: 124,210,709 (GRCm39)	C469Y	probably damaging	Het
Kdm2b	A	T	5: 123,059,532 (GRCm39)	N523K	probably damaging	Het
Kptn	A	G	7: 15,854,704 (GRCm39)	N125S	possibly damaging	Het
Krt17	T	C	11: 100,149,356 (GRCm39)	N238S	probably benign	Het
Lemd3	G	A	10: 120,814,145 (GRCm39)	R363*	probably null	Het
Mmrn1	G	A	6: 60,921,527 (GRCm39)		probably benign	Het
Mtus1	T	C	8: 41,537,524 (GRCm39)	D64G	probably damaging	Het
Muc16	A	G	9: 18,552,712 (GRCm39)	V4527A	probably benign	Het
Naip2	T	A	13: 100,323,991 (GRCm39)	D193V	probably damaging	Het
Nbeal1	G	C	1: 60,276,310 (GRCm39)	V684L	probably benign	Het
Nf1	A	G	11: 79,360,645 (GRCm39)	H1462R	probably benign	Het
Or2n1b	T	C	17: 38,459,965 (GRCm39)	V162A	probably benign	Het
Or5ak20	A	T	2: 85,183,900 (GRCm39)	Y123*	probably null	Het
Pappa2	T	A	1: 158,764,456 (GRCm39)	T352S	possibly damaging	Het
Pcnt	A	G	10: 76,244,738 (GRCm39)	L1114P	probably damaging	Het
Pde6b	T	C	5: 108,551,956 (GRCm39)	Y212H	probably damaging	Het
Pik3c2g	A	T	6: 139,805,990 (GRCm39)	I604F		Het
Pld2	A	G	11: 70,444,198 (GRCm39)	D498G	probably benign	Het
Prag1	A	T	8: 36,613,769 (GRCm39)	Q1107L	probably damaging	Het
Pwp1	A	T	10: 85,712,173 (GRCm39)	I110F	probably benign	Het
Rims4	C	T	2: 163,705,981 (GRCm39)	V218I	probably benign	Het
Rnf10	C	T	5: 115,380,532 (GRCm39)	S754N	probably damaging	Het
Rnf10	T	C	5: 115,380,533 (GRCm39)	S754G	probably damaging	Het
Sel1l2	A	T	2: 140,086,055 (GRCm39)	V512E	probably damaging	Het
Shank2	T	A	7: 143,585,146 (GRCm39)	M49K	probably benign	Het
Sipa1	T	C	19: 5,710,551 (GRCm39)	D153G	probably damaging	Het
Slc46a2	C	T	4: 59,914,279 (GRCm39)	V215I	possibly damaging	Het
Slco6c1	G	A	1: 97,055,671 (GRCm39)	L77F	probably benign	Het
Smarca2	T	C	19: 26,624,531 (GRCm39)	L397P	possibly damaging	Het
Spg7	C	T	8: 123,816,971 (GRCm39)	A554V	probably damaging	Het
Stab1	T	A	14: 30,865,630 (GRCm39)	M1753L	probably benign	Het
Stk11	A	G	10: 79,952,452 (GRCm39)	M1V	probably null	Het
Supt6	C	A	11: 78,122,976 (GRCm39)	G136C	probably damaging	Het
Svil	G	T	18: 5,094,574 (GRCm39)	R1418L	probably damaging	Het
Tfg	A	G	16: 56,521,516 (GRCm39)	S167P	probably benign	Het
Timeless	T	C	10: 128,079,158 (GRCm39)	V335A	probably benign	Het
Tll2	C	A	19: 41,108,666 (GRCm39)	R328L	probably damaging	Het
Tomm7	T	C	5: 24,049,059 (GRCm39)	S5G	possibly damaging	Het
Ttc39c	G	A	18: 12,820,138 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,556,105 (GRCm39)	E30300G	probably benign	Het
Tuba4a	A	T	1: 75,192,341 (GRCm39)	D452E	possibly damaging	Het
Tubgcp2	T	C	7: 139,587,927 (GRCm39)	I233V	probably benign	Het
Tubgcp5	T	A	7: 55,455,860 (GRCm39)	V296E	probably damaging	Het
Vmn2r53	T	C	7: 12,334,983 (GRCm39)	S226G	probably benign	Het
Xrcc6	T	C	15: 81,901,027 (GRCm39)		probably benign	Het
Zfhx4	C	A	3: 5,461,704 (GRCm39)	D1192E	probably benign	Het
Zfp3	A	G	11: 70,663,351 (GRCm39)	I437V	probably benign	Het
Zfp616	A	T	11: 73,976,689 (GRCm39)	Q986L	probably benign	Het
Zfp937	T	A	2: 150,081,385 (GRCm39)	C472S	probably damaging	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
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
R7816:Zfp180	UTSW	7	23,804,570 (GRCm39)	missense	probably damaging	1.00
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'- AGCCTTCTAAGCCATATGCC -3'
(R):5'- ACATGTGACGCCTGTTTATGG -3'

Sequencing Primer
(F):5'- CAAAGGCAGTCTTTCTTCTGTAGAC -3'
(R):5'- ACATGTGACGCCTGTTTATGGAAATG -3'

Posted On

2019-06-26