Mutagenetix > Incidental Mutation

Incidental Mutation 'R6255:Zfp990'

506048

Institutional Source

Beutler Lab

Gene Symbol

Zfp990

Ensembl Gene

ENSMUSG00000078503

Gene Name

zinc finger protein 990

Synonyms

Gm13225

MMRRC Submission

044372-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.061) question?

Stock #

R6255 (G1)

Quality Score

182.009

Status

Validated

Chromosome

Chromosomal Location

145510759-145539188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 145537789 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 452 (N452K)

Ref Sequence

ENSEMBL: ENSMUSP00000101368 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000105741] [ENSMUST00000105742] [ENSMUST00000136309]

AlphaFold

B1AVN5

Predicted Effect

probably benign
Transcript: ENSMUST00000105741
AA Change: N452K

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

SMART Domains

Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: N452K

Domain	Start	End	E-Value	Type
KRAB	13	76	1.34e-15	SMART
ZnF_C2H2	240	262	2.24e-3	SMART
ZnF_C2H2	268	290	3.58e-2	SMART
ZnF_C2H2	296	318	8.34e-3	SMART
ZnF_C2H2	324	346	1.22e-4	SMART
ZnF_C2H2	352	374	1.4e-4	SMART
ZnF_C2H2	380	402	9.73e-4	SMART
ZnF_C2H2	408	430	1.6e-4	SMART
ZnF_C2H2	436	458	1.92e-2	SMART
ZnF_C2H2	464	486	1.4e-4	SMART
ZnF_C2H2	492	514	9.73e-4	SMART
ZnF_C2H2	520	542	1.84e-4	SMART
ZnF_C2H2	548	570	4.47e-3	SMART
ZnF_C2H2	576	598	4.47e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000105742
AA Change: N452K

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

SMART Domains

Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: N452K

Domain	Start	End	E-Value	Type
KRAB	13	76	1.34e-15	SMART
ZnF_C2H2	240	262	2.24e-3	SMART
ZnF_C2H2	268	290	3.58e-2	SMART
ZnF_C2H2	296	318	8.34e-3	SMART
ZnF_C2H2	324	346	1.22e-4	SMART
ZnF_C2H2	352	374	1.4e-4	SMART
ZnF_C2H2	380	402	9.73e-4	SMART
ZnF_C2H2	408	430	1.6e-4	SMART
ZnF_C2H2	436	458	1.92e-2	SMART
ZnF_C2H2	464	486	1.4e-4	SMART
ZnF_C2H2	492	514	9.73e-4	SMART
ZnF_C2H2	520	542	1.84e-4	SMART
ZnF_C2H2	548	570	4.47e-3	SMART
ZnF_C2H2	576	598	4.47e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000136309

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (58/58)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4833420G17Rik	T	A	13: 119,466,123 (GRCm38)	V7E	possibly damaging	Het
Aars2	G	A	17: 45,514,609 (GRCm38)	G333S	probably damaging	Het
Aen	T	A	7: 78,905,844 (GRCm38)	I85N	probably damaging	Het
Ahnak	C	A	19: 9,008,025 (GRCm38)	H2224Q	possibly damaging	Het
Aldh18a1	C	T	19: 40,580,043 (GRCm38)	R41H	possibly damaging	Het
Bpifb9b	T	A	2: 154,309,364 (GRCm38)	W2R	probably damaging	Het
Caprin2	A	G	6: 148,877,892 (GRCm38)	I139T	probably benign	Het
Cdhr3	T	A	12: 33,053,475 (GRCm38)	N381I	probably damaging	Het
Cecr2	A	G	6: 120,758,050 (GRCm38)	Y721C	probably damaging	Het
Cherp	G	T	8: 72,470,881 (GRCm38)	A125D	probably damaging	Het
Cped1	G	A	6: 22,138,715 (GRCm38)		probably null	Het
Ctdp1	T	A	18: 80,459,297 (GRCm38)		probably null	Het
Cyp2c55	T	C	19: 39,018,667 (GRCm38)	I169T	probably benign	Het
Cyp4a31	T	C	4: 115,574,920 (GRCm38)	L418P	possibly damaging	Het
Efcab7	T	C	4: 99,829,390 (GRCm38)		probably benign	Het
Efcab8	T	C	2: 153,810,268 (GRCm38)	W466R	possibly damaging	Het
Ehd3	C	A	17: 73,805,413 (GRCm38)	N57K	probably benign	Het
Ern2	C	A	7: 122,173,272 (GRCm38)	K654N	probably damaging	Het
Fbxo18	A	T	2: 11,748,446 (GRCm38)	F879L	probably benign	Het
Gde1	T	C	7: 118,691,781 (GRCm38)	D92G	probably null	Het
Gm4788	A	T	1: 139,753,011 (GRCm38)	C256*	probably null	Het
Heatr5b	A	G	17: 78,803,434 (GRCm38)	V995A	probably damaging	Het
Ifrd2	A	G	9: 107,592,091 (GRCm38)	E346G	probably damaging	Het
Ism1	AACGGACCCGTTCTTGTGGCTATGCA	AA	2: 139,746,042 (GRCm38)		probably benign	Het
Itgb4	T	C	11: 115,998,137 (GRCm38)	V1102A	possibly damaging	Het
Itgb6	A	T	2: 60,605,276 (GRCm38)	I710N	probably damaging	Het
Kif1a	T	C	1: 93,019,983 (GRCm38)	K1578E	probably damaging	Het
Kif9	T	C	9: 110,517,834 (GRCm38)		probably null	Het
Kitl	T	C	10: 100,089,233 (GRCm38)	*57Q	probably null	Het
Lrat	C	A	3: 82,903,505 (GRCm38)	V70F	probably damaging	Het
Lrrc9	T	A	12: 72,487,023 (GRCm38)	M1022K	probably benign	Het
Muc16	T	C	9: 18,655,599 (GRCm38)	T1875A	unknown	Het
Mup4	T	A	4: 59,957,890 (GRCm38)	N171I	probably damaging	Het
Npas4	G	A	19: 4,986,375 (GRCm38)	T587I	probably damaging	Het
Oas3	A	G	5: 120,771,230 (GRCm38)	V217A	probably benign	Het
Olfr786	A	G	10: 129,437,688 (GRCm38)	N292S	possibly damaging	Het
Osbp	C	A	19: 11,977,953 (GRCm38)	A323D	possibly damaging	Het
Panx2	G	A	15: 89,067,618 (GRCm38)	R96H	probably damaging	Het
Pcdhb18	G	A	18: 37,490,484 (GRCm38)	R289Q	probably benign	Het
Piezo2	T	C	18: 63,121,270 (GRCm38)	R385G	possibly damaging	Het
Pkn2	T	C	3: 142,811,599 (GRCm38)	T476A	probably damaging	Het
Plekha4	T	C	7: 45,553,802 (GRCm38)		probably benign	Het
Ppfibp2	T	C	7: 107,681,762 (GRCm38)	S94P	probably damaging	Het
Pramel7	T	A	2: 87,489,663 (GRCm38)	I429L	probably benign	Het
Rif1	A	G	2: 52,085,053 (GRCm38)	K325E	probably damaging	Het
Ror2	T	C	13: 53,110,542 (GRCm38)	Y826C	probably damaging	Het
Rsph10b	G	A	5: 143,959,746 (GRCm38)	G19R	probably damaging	Het
Slc20a1	A	G	2: 129,208,004 (GRCm38)	N361D	probably damaging	Het
Slc26a9	A	G	1: 131,763,909 (GRCm38)	D630G	probably benign	Het
Smtnl2	G	A	11: 72,401,399 (GRCm38)	A274V	probably damaging	Het
Trank1	T	C	9: 111,352,246 (GRCm38)		probably null	Het
Tspan10	T	A	11: 120,444,542 (GRCm38)	C159*	probably null	Het
Uba6	G	A	5: 86,164,765 (GRCm38)	T23I	probably benign	Het
Vmn2r74	T	C	7: 85,952,451 (GRCm38)	T660A	possibly damaging	Het
Vwa5b1	T	C	4: 138,578,672 (GRCm38)	N905S	probably benign	Het
Zfp831	T	C	2: 174,646,421 (GRCm38)	L963P	possibly damaging	Het

Other mutations in Zfp990

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Zfp990	APN	4	145,537,868 (GRCm38)	missense	probably damaging	0.99
IGL01774:Zfp990	APN	4	145,536,948 (GRCm38)	missense	probably benign	0.28
IGL01895:Zfp990	APN	4	145,536,858 (GRCm38)	missense	probably damaging	0.99
IGL01895:Zfp990	APN	4	145,536,857 (GRCm38)	missense	probably damaging	0.97
IGL02349:Zfp990	APN	4	145,530,877 (GRCm38)	utr 5 prime	probably benign
IGL02598:Zfp990	APN	4	145,536,963 (GRCm38)	missense	possibly damaging	0.67
IGL02940:Zfp990	APN	4	145,534,922 (GRCm38)	splice site	probably null
IGL03026:Zfp990	APN	4	145,537,110 (GRCm38)	missense	possibly damaging	0.54
R0007:Zfp990	UTSW	4	145,537,438 (GRCm38)	missense	probably benign	0.00
R0352:Zfp990	UTSW	4	145,536,604 (GRCm38)	missense	probably damaging	0.99
R0631:Zfp990	UTSW	4	145,537,302 (GRCm38)	missense	possibly damaging	0.89
R1490:Zfp990	UTSW	4	145,537,283 (GRCm38)	missense	probably benign	0.44
R1537:Zfp990	UTSW	4	145,536,996 (GRCm38)	missense	possibly damaging	0.67
R1832:Zfp990	UTSW	4	145,538,210 (GRCm38)	missense	possibly damaging	0.51
R1956:Zfp990	UTSW	4	145,534,882 (GRCm38)	missense	probably damaging	1.00
R1982:Zfp990	UTSW	4	145,536,869 (GRCm38)	missense	probably damaging	0.99
R2024:Zfp990	UTSW	4	145,537,404 (GRCm38)	missense	possibly damaging	0.69
R2097:Zfp990	UTSW	4	145,537,322 (GRCm38)	missense	possibly damaging	0.94
R2235:Zfp990	UTSW	4	145,537,891 (GRCm38)	missense	probably damaging	0.99
R4194:Zfp990	UTSW	4	145,536,977 (GRCm38)	splice site	probably null
R4195:Zfp990	UTSW	4	145,536,977 (GRCm38)	splice site	probably null
R4418:Zfp990	UTSW	4	145,536,728 (GRCm38)	missense	possibly damaging	0.87
R4617:Zfp990	UTSW	4	145,537,046 (GRCm38)	missense	possibly damaging	0.59
R4736:Zfp990	UTSW	4	145,536,942 (GRCm38)	missense	possibly damaging	0.95
R4880:Zfp990	UTSW	4	145,537,920 (GRCm38)	missense	probably benign
R4941:Zfp990	UTSW	4	145,536,837 (GRCm38)	missense	probably damaging	1.00
R5014:Zfp990	UTSW	4	145,538,099 (GRCm38)	missense	possibly damaging	0.93
R5945:Zfp990	UTSW	4	145,538,043 (GRCm38)	missense	probably damaging	0.98
R6238:Zfp990	UTSW	4	145,537,913 (GRCm38)	missense	probably damaging	1.00
R6267:Zfp990	UTSW	4	145,538,103 (GRCm38)	missense	possibly damaging	0.59
R6296:Zfp990	UTSW	4	145,538,103 (GRCm38)	missense	possibly damaging	0.59
R6412:Zfp990	UTSW	4	145,537,568 (GRCm38)	missense	probably benign	0.00
R6616:Zfp990	UTSW	4	145,537,145 (GRCm38)	missense	probably benign	0.01
R6701:Zfp990	UTSW	4	145,538,178 (GRCm38)	missense	probably benign	0.45
R6720:Zfp990	UTSW	4	145,536,927 (GRCm38)	missense	possibly damaging	0.67
R7015:Zfp990	UTSW	4	145,536,635 (GRCm38)	missense	probably damaging	0.99
R7487:Zfp990	UTSW	4	145,537,587 (GRCm38)	missense	probably damaging	1.00
R7722:Zfp990	UTSW	4	145,536,962 (GRCm38)	missense	possibly damaging	0.86
R8749:Zfp990	UTSW	4	145,537,586 (GRCm38)	missense	probably damaging	0.96
R8785:Zfp990	UTSW	4	145,537,676 (GRCm38)	missense	probably benign	0.00
R9161:Zfp990	UTSW	4	145,534,939 (GRCm38)	missense	possibly damaging	0.71
R9211:Zfp990	UTSW	4	145,537,601 (GRCm38)	missense	probably damaging	0.98
Z1176:Zfp990	UTSW	4	145,536,811 (GRCm38)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AAGCAGTCTGAGAATTCATCAGAGAAT -3'
(R):5'- CCAAGATGGGATTTTCGGGTAA -3'

Sequencing Primer
(F):5'- TTCATCAGAGAATTCATACAGGAGAG -3'
(R):5'- CGGGTAAAGCATTTGTCACATTCAC -3'

Posted On

2018-02-28