Mutagenetix > Incidental Mutation

Incidental Mutation 'R4912:Zkscan16'

379608

Institutional Source

Beutler Lab

Gene Symbol

Zkscan16

Ensembl Gene

ENSMUSG00000038630

Gene Name

zinc finger with KRAB and SCAN domains 16

Synonyms

Zfp483

MMRRC Submission

042514-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.078) question?

Stock #

R4912 (G1)

Quality Score

102

Status

Not validated

Chromosome

Chromosomal Location

58943628-58958355 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 58946506 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 127 (N127T)

Ref Sequence

ENSEMBL: ENSMUSP00000103178 (fasta)

Gene Model

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

AlphaFold

A2ALW2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107554
AA Change: N127T

PolyPhen 2 Score 0.847 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000103178
Gene: ENSMUSG00000038630
AA Change: N127T

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: 99.1%
3x: 98.3%
10x: 96.2%
20x: 91.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700006A11Rik	T	C	3: 124,213,505 (GRCm39)	D52G	possibly damaging	Het
Acaa1a	C	A	9: 119,171,827 (GRCm39)	R102S	probably damaging	Het
Arhgef12	G	A	9: 42,904,361 (GRCm39)	R706*	probably null	Het
Best3	A	G	10: 116,844,886 (GRCm39)	Y347C	probably damaging	Het
Birc6	T	A	17: 74,872,900 (GRCm39)	D386E	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,144 (GRCm39)	T66S	probably benign	Het
Chd9	A	T	8: 91,760,858 (GRCm39)	D2201V	possibly damaging	Het
Csk	A	G	9: 57,538,063 (GRCm39)	Y48H	probably damaging	Het
Dffb	T	A	4: 154,049,864 (GRCm39)		probably benign	Het
Diaph3	A	C	14: 87,244,635 (GRCm39)	C217W	probably damaging	Het
Eml2	T	A	7: 18,927,924 (GRCm39)		probably null	Het
Ercc5	T	C	1: 44,196,217 (GRCm39)	I70T	probably damaging	Het
Fryl	AGTGTGT	AGTGT	5: 73,226,125 (GRCm39)		probably null	Het
Fsd1	C	T	17: 56,298,241 (GRCm39)	P189S	possibly damaging	Het
Gm42669	A	G	5: 107,656,683 (GRCm39)	K982R	probably damaging	Het
Gm5414	A	G	15: 101,533,445 (GRCm39)	I373T	possibly damaging	Het
Gm7356	A	G	17: 14,221,498 (GRCm39)	L177P	possibly damaging	Het
Grip1	G	A	10: 119,767,153 (GRCm39)	D93N	probably damaging	Het
Hbq1b	T	A	11: 32,237,014 (GRCm39)	M1K	probably null	Het
Hps3	C	A	3: 20,068,337 (GRCm39)	L572F	probably damaging	Het
Ighj2	T	A	12: 113,393,100 (GRCm39)		probably benign	Het
Kcna3	T	C	3: 106,945,207 (GRCm39)	M490T	probably benign	Het
Krt76	T	A	15: 101,796,597 (GRCm39)	K404*	probably null	Het
Lgr4	A	T	2: 109,836,847 (GRCm39)		probably null	Het
Ltbp4	G	T	7: 27,005,541 (GRCm39)	C1533*	probably null	Het
Mapre2	A	G	18: 23,965,990 (GRCm39)	N25S	probably damaging	Het
Mark3	T	A	12: 111,559,087 (GRCm39)	I43K	probably benign	Het
Mon1b	T	A	8: 114,368,585 (GRCm39)	Y495*	probably null	Het
Mrfap1	A	G	5: 36,954,089 (GRCm39)		probably benign	Het
Mxra8	A	G	4: 155,925,361 (GRCm39)		probably null	Het
Myoz1	A	T	14: 20,699,606 (GRCm39)	L244Q	probably damaging	Het
Ndfip2	C	T	14: 105,496,120 (GRCm39)	R5W	probably benign	Het
Nek11	T	C	9: 105,164,857 (GRCm39)	D423G	probably benign	Het
Nin	A	T	12: 70,090,837 (GRCm39)	D859E	probably damaging	Het
Nup210	G	A	6: 90,994,511 (GRCm39)	A1729V	probably benign	Het
Olfm3	A	G	3: 114,895,589 (GRCm39)	E157G	probably damaging	Het
Or1e1f	A	T	11: 73,856,166 (GRCm39)	H244L	probably damaging	Het
Prickle1	A	G	15: 93,398,429 (GRCm39)	S800P	probably benign	Het
Reln	A	G	5: 22,130,191 (GRCm39)	S2707P	probably benign	Het
Resf1	C	G	6: 149,230,887 (GRCm39)	S1311C	probably damaging	Het
Rexo4	G	A	2: 26,852,404 (GRCm39)	T200M	possibly damaging	Het
Saxo2	T	A	7: 82,283,743 (GRCm39)	I372L	probably benign	Het
Scgb2b2	T	A	7: 31,003,056 (GRCm39)	D50E	probably benign	Het
Sipa1l1	T	C	12: 82,443,452 (GRCm39)	L914P	possibly damaging	Het
Slf1	T	A	13: 77,199,413 (GRCm39)	D656V	probably damaging	Het
Sorbs1	T	C	19: 40,300,171 (GRCm39)	D1192G	probably damaging	Het
Tdrd6	A	C	17: 43,935,218 (GRCm39)	D1943E	probably benign	Het
Tmem163	G	A	1: 127,419,362 (GRCm39)	T281M	probably damaging	Het
Tmod3	A	G	9: 75,439,730 (GRCm39)	V35A	probably damaging	Het
Ttc39c	A	T	18: 12,867,951 (GRCm39)	Q448L	probably benign	Het
Ulk1	A	T	5: 110,935,455 (GRCm39)	S937T	probably damaging	Het
Unc13c	T	A	9: 73,481,304 (GRCm39)	D1711V	probably damaging	Het
Usp5	C	G	6: 124,799,593 (GRCm39)	K318N	possibly damaging	Het
Utp20	G	T	10: 88,607,822 (GRCm39)	Q1596K	probably benign	Het
Vmn1r28	A	T	6: 58,242,525 (GRCm39)	I123F	possibly damaging	Het
Vmn1r73	T	A	7: 11,490,596 (GRCm39)	V138E	probably damaging	Het
Vmn2r112	A	G	17: 22,822,363 (GRCm39)	D347G	probably damaging	Het
Vmn2r3	T	G	3: 64,166,618 (GRCm39)	T838P	probably damaging	Het
Vps13d	A	T	4: 144,882,427 (GRCm39)	D1055E	probably benign	Het
Wdr17	T	C	8: 55,082,896 (GRCm39)	D1268G	probably damaging	Het
Zfp108	T	A	7: 23,960,739 (GRCm39)	H443Q	probably damaging	Het
Zfp608	A	G	18: 55,079,663 (GRCm39)	V374A	probably damaging	Het
Zfp831	G	T	2: 174,486,417 (GRCm39)	G364V	probably damaging	Het
Zfp94	A	G	7: 24,003,166 (GRCm39)	V86A	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
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
R9745:Zkscan16	UTSW	4	58,957,473 (GRCm39)	missense	possibly damaging	0.93
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'- TGGGAACTCTGCAAGCAGTG -3'
(R):5'- TTAGGGTCCCTAACAAGAGACC -3'

Sequencing Primer
(F):5'- GCAGTGGCTGAGACCAG -3'
(R):5'- CTAAGAGGTCTTGACCCACAGGTTG -3'

Posted On

2016-04-15