Mutagenetix > Incidental Mutation

Incidental Mutation 'R9745:Zkscan16'

732025

Institutional Source

Beutler Lab

Gene Symbol

Zkscan16

Ensembl Gene

ENSMUSG00000038630

Gene Name

zinc finger with KRAB and SCAN domains 16

Synonyms

Zfp483

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R9745 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58943628-58958355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 58957473 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Leucine at position 585 (H585L)

Ref Sequence

ENSEMBL: ENSMUSP00000103178 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000107554]

AlphaFold

A2ALW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107554
AA Change: H585L

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: H585L

Domain	Start	End	E-Value	Type
SCAN	44	153	1.9e-42	SMART
KRAB	170	230	1.66e-20	SMART
internal_repeat_1	281	452	7.49e-5	PROSPERO
ZnF_C2H2	483	505	4.79e-3	SMART
ZnF_C2H2	511	533	2.75e-3	SMART
ZnF_C2H2	539	561	1.6e-4	SMART
ZnF_C2H2	567	589	5.99e-4	SMART
ZnF_C2H2	595	617	1.99e0	SMART
ZnF_C2H2	623	645	5.14e-3	SMART
ZnF_C2H2	651	673	2.65e-5	SMART
ZnF_C2H2	679	701	1.82e-3	SMART
ZnF_C2H2	706	725	4.74e1	SMART

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 99.1%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agap2	T	A	10: 126,919,380 (GRCm39)	H488Q	unknown	Het
Ces1b	T	C	8: 93,790,625 (GRCm39)	D388G	probably benign	Het
Ces1f	T	C	8: 93,989,740 (GRCm39)	D392G	probably benign	Het
Ces5a	A	G	8: 94,228,814 (GRCm39)	V472A	probably damaging	Het
Chst1	A	G	2: 92,444,047 (GRCm39)	D173G	possibly damaging	Het
Cngb1	T	G	8: 95,967,919 (GRCm39)	E1294A	unknown	Het
Cnmd	T	C	14: 79,887,850 (GRCm39)	I124V	possibly damaging	Het
Cntnap2	A	T	6: 46,211,100 (GRCm39)	M505L	probably benign	Het
Cntnap4	T	A	8: 113,391,808 (GRCm39)	M91K	possibly damaging	Het
Cstad	A	G	2: 30,498,197 (GRCm39)	T11A	unknown	Het
Cyp2j6	A	T	4: 96,441,621 (GRCm39)	V23E	possibly damaging	Het
Dapk3	C	A	10: 81,028,594 (GRCm39)	T388K	unknown	Het
Dennd6a	G	A	14: 26,320,818 (GRCm39)	G120R	possibly damaging	Het
Disp1	A	C	1: 182,869,310 (GRCm39)	S1037A	probably damaging	Het
Dpcd	A	T	19: 45,560,881 (GRCm39)	Q103L	probably benign	Het
Egfem1	A	T	3: 29,716,532 (GRCm39)	D334V	probably damaging	Het
Egflam	C	T	15: 7,333,419 (GRCm39)	V178M	probably benign	Het
Ehbp1	T	C	11: 22,096,692 (GRCm39)	T291A	probably benign	Het
Eif5b	G	T	1: 38,084,729 (GRCm39)	V859F	probably damaging	Het
Fam161a	A	T	11: 22,973,495 (GRCm39)	Q459L	possibly damaging	Het
Fcgrt	A	C	7: 44,742,754 (GRCm39)	D342E	probably damaging	Het
Fchsd1	A	C	18: 38,102,425 (GRCm39)	D34E	probably benign	Het
Foxo4	G	A	X: 100,301,955 (GRCm39)	S209N	probably benign	Het
Galt	A	T	4: 41,758,185 (GRCm39)	M317L	possibly damaging	Het
Gfm1	A	G	3: 67,358,657 (GRCm39)	D416G	possibly damaging	Het
Glcci1	A	T	6: 8,573,278 (GRCm39)	I256L	probably benign	Het
Ibtk	C	T	9: 85,613,280 (GRCm39)	G228S	probably benign	Het
Ift70b	T	C	2: 75,768,261 (GRCm39)	Y164C	probably benign	Het
Il2rb	T	A	15: 78,372,399 (GRCm39)	D106V	probably benign	Het
Map3k6	A	T	4: 132,979,783 (GRCm39)	I1261F	probably damaging	Het
Mast2	A	G	4: 116,167,815 (GRCm39)	L1014P	probably benign	Het
Mcm2	G	A	6: 88,868,729 (GRCm39)	Q343*	probably null	Het
Megf8	A	G	7: 25,058,133 (GRCm39)	T2136A	possibly damaging	Het
Mmp28	G	A	11: 83,342,283 (GRCm39)	T103I	probably benign	Het
Mtif2	G	A	11: 29,476,587 (GRCm39)		probably benign	Het
Mtus2	A	T	5: 148,013,311 (GRCm39)	T35S	possibly damaging	Het
Ncoa2	A	T	1: 13,245,192 (GRCm39)	I502N	probably benign	Het
Nek5	A	C	8: 22,573,479 (GRCm39)	D492E	probably benign	Het
Nin	T	C	12: 70,089,899 (GRCm39)	E1172G		Het
Nsmaf	T	A	4: 6,416,662 (GRCm39)	I544F	possibly damaging	Het
Oas3	T	C	5: 120,899,284 (GRCm39)	D763G	unknown	Het
Or2a20	G	A	6: 43,194,258 (GRCm39)	W137*	probably null	Het
Or4s2	T	A	2: 88,473,310 (GRCm39)	F66L	probably benign	Het
Or51r1	A	T	7: 102,227,861 (GRCm39)	D53V	probably damaging	Het
Or5al6	C	T	2: 85,976,251 (GRCm39)	V276M	probably damaging	Het
Or5aq1	T	A	2: 86,965,783 (GRCm39)	N294I	probably damaging	Het
Or5k15	A	T	16: 58,710,265 (GRCm39)	L106Q	probably damaging	Het
Or5t17	T	C	2: 86,832,487 (GRCm39)	V58A	probably benign	Het
Pcdh7	T	C	5: 57,879,622 (GRCm39)		probably null	Het
Pitx3	A	G	19: 46,124,660 (GRCm39)	S236P	possibly damaging	Het
Plscr5	T	A	9: 92,087,502 (GRCm39)	I157N	probably damaging	Het
Potefam1	T	C	2: 111,000,008 (GRCm39)	M201V	unknown	Het
Preb	T	C	5: 31,116,732 (GRCm39)	N54D	probably benign	Het
Pskh1	C	T	8: 106,656,404 (GRCm39)	A360V	possibly damaging	Het
Ptprk	T	C	10: 28,139,608 (GRCm39)	L111S	possibly damaging	Het
Reln	T	A	5: 22,152,525 (GRCm39)	I2314F	probably damaging	Het
Siglecg	A	G	7: 43,067,476 (GRCm39)	D681G	probably damaging	Het
Snx5	A	G	2: 144,096,716 (GRCm39)	V283A	probably benign	Het
Srpk2	C	A	5: 23,880,874 (GRCm39)		probably benign	Het
Tacr1	T	C	6: 82,469,619 (GRCm39)	Y168H	possibly damaging	Het
Tal1	G	T	4: 114,920,557 (GRCm39)	R77L	probably benign	Het
Tdrd12	T	C	7: 35,185,964 (GRCm39)		probably null	Het
Tdrd7	A	T	4: 45,994,310 (GRCm39)	N236I	possibly damaging	Het
Tdrd9	T	C	12: 112,009,130 (GRCm39)	F1012S	probably damaging	Het
Tekt2	C	T	4: 126,217,444 (GRCm39)	R207H	probably damaging	Het
Tert	T	A	13: 73,784,609 (GRCm39)	L685Q	probably damaging	Het
Th	T	G	7: 142,448,851 (GRCm39)	D342A	probably damaging	Het
Tpsg1	G	T	17: 25,591,492 (GRCm39)	V31L	probably damaging	Het
Traf3ip1	C	G	1: 91,439,095 (GRCm39)	S337*	probably null	Het
Trpv6	A	G	6: 41,600,003 (GRCm39)	F551S	probably damaging	Het
Urah	A	G	7: 140,415,531 (GRCm39)	N23D	probably benign	Het
Vangl1	A	C	3: 102,072,669 (GRCm39)		probably null	Het
Zc3h6	A	G	2: 128,859,155 (GRCm39)	E1062G	probably benign	Het
Zfp37	A	T	4: 62,110,644 (GRCm39)	V181E	possibly damaging	Het
Zfp638	T	A	6: 83,921,795 (GRCm39)	S641T	probably benign	Het

Other mutations in Zkscan16

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00467:Zkscan16	APN	4	58,957,709 (GRCm39)	missense	possibly damaging	0.86
IGL01296:Zkscan16	APN	4	58,956,690 (GRCm39)	missense	possibly damaging	0.53
IGL01330:Zkscan16	APN	4	58,956,483 (GRCm39)	missense	possibly damaging	0.85
IGL02143:Zkscan16	APN	4	58,956,911 (GRCm39)	missense	probably damaging	1.00
IGL02901:Zkscan16	APN	4	58,946,283 (GRCm39)	missense	probably damaging	0.98
IGL03399:Zkscan16	APN	4	58,956,915 (GRCm39)	missense	probably benign	0.33
R0271:Zkscan16	UTSW	4	58,952,391 (GRCm39)	missense	probably benign	0.33
R0317:Zkscan16	UTSW	4	58,957,602 (GRCm39)	missense	possibly damaging	0.86
R0542:Zkscan16	UTSW	4	58,956,597 (GRCm39)	missense	possibly damaging	0.53
R1417:Zkscan16	UTSW	4	58,952,377 (GRCm39)	missense	probably benign	0.33
R1674:Zkscan16	UTSW	4	58,948,918 (GRCm39)	missense	possibly damaging	0.96
R2014:Zkscan16	UTSW	4	58,956,525 (GRCm39)	missense	possibly damaging	0.96
R2246:Zkscan16	UTSW	4	58,957,329 (GRCm39)	missense	probably benign	0.09
R2352:Zkscan16	UTSW	4	58,951,869 (GRCm39)	missense	possibly damaging	0.71
R2851:Zkscan16	UTSW	4	58,957,364 (GRCm39)	missense	possibly damaging	0.71
R2852:Zkscan16	UTSW	4	58,957,364 (GRCm39)	missense	possibly damaging	0.71
R3896:Zkscan16	UTSW	4	58,946,125 (GRCm39)	start gained	probably benign
R4488:Zkscan16	UTSW	4	58,957,431 (GRCm39)	missense	possibly damaging	0.89
R4631:Zkscan16	UTSW	4	58,951,918 (GRCm39)	missense	probably damaging	0.98
R4825:Zkscan16	UTSW	4	58,957,809 (GRCm39)	missense	possibly damaging	0.73
R4912:Zkscan16	UTSW	4	58,946,506 (GRCm39)	missense	possibly damaging	0.85
R5014:Zkscan16	UTSW	4	58,951,892 (GRCm39)	missense	probably damaging	0.97
R5411:Zkscan16	UTSW	4	58,956,745 (GRCm39)	frame shift	probably null
R5642:Zkscan16	UTSW	4	58,957,748 (GRCm39)	missense	probably benign	0.11
R5809:Zkscan16	UTSW	4	58,946,481 (GRCm39)	missense	probably damaging	0.98
R6089:Zkscan16	UTSW	4	58,948,889 (GRCm39)	missense	possibly damaging	0.85
R6152:Zkscan16	UTSW	4	58,946,260 (GRCm39)	missense	possibly damaging	0.85
R6469:Zkscan16	UTSW	4	58,956,483 (GRCm39)	missense	probably damaging	0.98
R7662:Zkscan16	UTSW	4	58,957,679 (GRCm39)	nonsense	probably null
R7790:Zkscan16	UTSW	4	58,951,843 (GRCm39)	nonsense	probably null
R8150:Zkscan16	UTSW	4	58,952,407 (GRCm39)	missense	probably benign	0.06
R8359:Zkscan16	UTSW	4	58,957,230 (GRCm39)	missense	possibly damaging	0.92
R9022:Zkscan16	UTSW	4	58,957,021 (GRCm39)	missense	probably benign	0.03
R9133:Zkscan16	UTSW	4	58,957,722 (GRCm39)	missense	possibly damaging	0.93
R9641:Zkscan16	UTSW	4	58,956,577 (GRCm39)	missense	probably benign	0.00
X0020:Zkscan16	UTSW	4	58,956,747 (GRCm39)	missense	possibly damaging	0.91
Z1176:Zkscan16	UTSW	4	58,957,052 (GRCm39)	missense	probably damaging	1.00
Z1177:Zkscan16	UTSW	4	58,948,909 (GRCm39)	missense	probably benign	0.07

Predicted Primers

PCR Primer
(F):5'- GACGAATGTGGGAAGCGTTTC -3'
(R):5'- ACCTCAAATGCCGACTGAG -3'

Sequencing Primer
(F):5'- CCCTACGTGTGTAAACACTGTGG -3'
(R):5'- CCGACTGAGGCGGGAATG -3'

Posted On

2022-11-14