Mutagenetix > Incidental Mutation

Incidental Mutation 'R0007:Zfp990'

19155

Institutional Source

Beutler Lab

Gene Symbol

Zfp990

Ensembl Gene

ENSMUSG00000078503

Gene Name

zinc finger protein 990

Synonyms

Gm13225

MMRRC Submission

038302-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.067) question?

Stock #

R0007 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

145237329-145265751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 145264008 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 335 (H335Q)

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: H335Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: H335Q

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: H335Q

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: H335Q

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 75.9%
3x: 62.7%
10x: 33.8%
20x: 16.7%

Validation Efficiency

95% (54/57)

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406B18Rik	T	C	7: 43,147,466 (GRCm39)		probably benign	Het
Cdh8	A	T	8: 99,957,088 (GRCm39)	L205*	probably null	Het
Cntnap2	A	C	6: 45,969,007 (GRCm39)	N250H	possibly damaging	Het
Col7a1	T	C	9: 108,790,471 (GRCm39)	V973A	unknown	Het
Denr	T	A	5: 124,062,877 (GRCm39)	Y127N	probably damaging	Het
Diaph3	C	A	14: 87,104,056 (GRCm39)	R776L	possibly damaging	Het
F2	T	C	2: 91,460,952 (GRCm39)	E260G	probably benign	Het
Il1rl1	C	T	1: 40,485,331 (GRCm39)	T261I	possibly damaging	Het
Lama3	T	A	18: 12,630,938 (GRCm39)		probably benign	Het
Map2k5	A	T	9: 63,201,006 (GRCm39)	I209N	probably damaging	Het
Myo1b	T	A	1: 51,815,413 (GRCm39)	R650S	probably damaging	Het
Nek10	T	A	14: 14,840,574 (GRCm38)	H153Q	probably benign	Het
Nlrp9a	T	C	7: 26,250,515 (GRCm39)		probably benign	Het
Pcnx4	T	A	12: 72,602,353 (GRCm39)	F281I	possibly damaging	Het
Pcsk5	C	A	19: 17,632,225 (GRCm39)	G314C	probably damaging	Het
Pkhd1l1	T	C	15: 44,437,794 (GRCm39)		probably benign	Het
Polr2b	T	C	5: 77,488,284 (GRCm39)	V828A	probably benign	Het
Slc44a4	G	A	17: 35,140,230 (GRCm39)	A60T	probably damaging	Het
Sparcl1	T	A	5: 104,234,946 (GRCm39)	Q523L	probably damaging	Het
Tnfrsf21	C	T	17: 43,349,104 (GRCm39)	H239Y	probably benign	Het
Trhr	T	C	15: 44,092,547 (GRCm39)		probably benign	Het
Trim16	A	G	11: 62,719,944 (GRCm39)	M84V	probably benign	Het
Trpm3	G	A	19: 22,964,893 (GRCm39)	A1453T	probably benign	Het

Other mutations in Zfp990

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Zfp990	APN	4	145,264,438 (GRCm39)	missense	probably damaging	0.99
IGL01774:Zfp990	APN	4	145,263,518 (GRCm39)	missense	probably benign	0.28
IGL01895:Zfp990	APN	4	145,263,428 (GRCm39)	missense	probably damaging	0.99
IGL01895:Zfp990	APN	4	145,263,427 (GRCm39)	missense	probably damaging	0.97
IGL02349:Zfp990	APN	4	145,257,447 (GRCm39)	utr 5 prime	probably benign
IGL02598:Zfp990	APN	4	145,263,533 (GRCm39)	missense	possibly damaging	0.67
IGL02940:Zfp990	APN	4	145,261,492 (GRCm39)	splice site	probably null
IGL03026:Zfp990	APN	4	145,263,680 (GRCm39)	missense	possibly damaging	0.54
R0352:Zfp990	UTSW	4	145,263,174 (GRCm39)	missense	probably damaging	0.99
R0631:Zfp990	UTSW	4	145,263,872 (GRCm39)	missense	possibly damaging	0.89
R1490:Zfp990	UTSW	4	145,263,853 (GRCm39)	missense	probably benign	0.44
R1537:Zfp990	UTSW	4	145,263,566 (GRCm39)	missense	possibly damaging	0.67
R1832:Zfp990	UTSW	4	145,264,780 (GRCm39)	missense	possibly damaging	0.51
R1956:Zfp990	UTSW	4	145,261,452 (GRCm39)	missense	probably damaging	1.00
R1982:Zfp990	UTSW	4	145,263,439 (GRCm39)	missense	probably damaging	0.99
R2024:Zfp990	UTSW	4	145,263,974 (GRCm39)	missense	possibly damaging	0.69
R2097:Zfp990	UTSW	4	145,263,892 (GRCm39)	missense	possibly damaging	0.94
R2235:Zfp990	UTSW	4	145,264,461 (GRCm39)	missense	probably damaging	0.99
R4194:Zfp990	UTSW	4	145,263,547 (GRCm39)	splice site	probably null
R4195:Zfp990	UTSW	4	145,263,547 (GRCm39)	splice site	probably null
R4418:Zfp990	UTSW	4	145,263,298 (GRCm39)	missense	possibly damaging	0.87
R4617:Zfp990	UTSW	4	145,263,616 (GRCm39)	missense	possibly damaging	0.59
R4736:Zfp990	UTSW	4	145,263,512 (GRCm39)	missense	possibly damaging	0.95
R4880:Zfp990	UTSW	4	145,264,490 (GRCm39)	missense	probably benign
R4941:Zfp990	UTSW	4	145,263,407 (GRCm39)	missense	probably damaging	1.00
R5014:Zfp990	UTSW	4	145,264,669 (GRCm39)	missense	possibly damaging	0.93
R5945:Zfp990	UTSW	4	145,264,613 (GRCm39)	missense	probably damaging	0.98
R6238:Zfp990	UTSW	4	145,264,483 (GRCm39)	missense	probably damaging	1.00
R6255:Zfp990	UTSW	4	145,264,359 (GRCm39)	missense	probably benign	0.00
R6267:Zfp990	UTSW	4	145,264,673 (GRCm39)	missense	possibly damaging	0.59
R6296:Zfp990	UTSW	4	145,264,673 (GRCm39)	missense	possibly damaging	0.59
R6412:Zfp990	UTSW	4	145,264,138 (GRCm39)	missense	probably benign	0.00
R6616:Zfp990	UTSW	4	145,263,715 (GRCm39)	missense	probably benign	0.01
R6701:Zfp990	UTSW	4	145,264,748 (GRCm39)	missense	probably benign	0.45
R6720:Zfp990	UTSW	4	145,263,497 (GRCm39)	missense	possibly damaging	0.67
R7015:Zfp990	UTSW	4	145,263,205 (GRCm39)	missense	probably damaging	0.99
R7487:Zfp990	UTSW	4	145,264,157 (GRCm39)	missense	probably damaging	1.00
R7722:Zfp990	UTSW	4	145,263,532 (GRCm39)	missense	possibly damaging	0.86
R8749:Zfp990	UTSW	4	145,264,156 (GRCm39)	missense	probably damaging	0.96
R8785:Zfp990	UTSW	4	145,264,246 (GRCm39)	missense	probably benign	0.00
R9161:Zfp990	UTSW	4	145,261,509 (GRCm39)	missense	possibly damaging	0.71
R9211:Zfp990	UTSW	4	145,264,171 (GRCm39)	missense	probably damaging	0.98
Z1176:Zfp990	UTSW	4	145,263,381 (GRCm39)	missense	probably damaging	0.97

Posted On

2013-03-25