Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02598:Zfp990'

299934

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp990

Ensembl Gene

ENSMUSG00000078503

Gene Name

zinc finger protein 990

Synonyms

Gm13225

Accession Numbers

Essential gene?

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

Stock #

IGL02598

Quality Score

Status

Chromosome

Chromosomal Location

145237329-145265751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145263533 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Isoleucine at position 177 (N177I)

Ref Sequence

ENSEMBL: ENSMUSP00000101368 (fasta)

Gene Model

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

AlphaFold

B1AVN5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000105741
AA Change: N177I

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: N177I

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

possibly damaging
Transcript: ENSMUST00000105742
AA Change: N177I

PolyPhen 2 Score 0.674 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: N177I

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933414I15Rik	A	T	11: 50,834,448 (GRCm39)	M1K	probably null	Het
Abca13	C	T	11: 9,381,898 (GRCm39)	T3850I	probably damaging	Het
Abcc4	A	T	14: 118,905,781 (GRCm39)	L95*	probably null	Het
Acacb	A	G	5: 114,384,098 (GRCm39)	Y2209C	probably damaging	Het
Acadm	A	G	3: 153,644,181 (GRCm39)		probably benign	Het
Arid2	G	A	15: 96,269,417 (GRCm39)	V1177M	probably damaging	Het
Atp8a1	A	T	5: 67,840,099 (GRCm39)		probably null	Het
Catsperd	A	G	17: 56,954,815 (GRCm39)		probably null	Het
Cd28	A	G	1: 60,802,498 (GRCm39)		probably benign	Het
Cep164	A	G	9: 45,682,002 (GRCm39)	Y1934H	probably damaging	Het
Cep350	T	C	1: 155,738,713 (GRCm39)	I2377V	probably benign	Het
Csmd3	T	C	15: 47,533,086 (GRCm39)	K1581E	probably damaging	Het
Dab2	A	T	15: 6,458,847 (GRCm39)	N232I	probably damaging	Het
Dyrk4	G	A	6: 126,860,982 (GRCm39)		probably benign	Het
Efcab14	T	A	4: 115,597,631 (GRCm39)	C75*	probably null	Het
Elovl1	T	C	4: 118,288,616 (GRCm39)		probably null	Het
Eps8l2	T	G	7: 140,934,849 (GRCm39)		probably benign	Het
Grik1	A	T	16: 87,744,872 (GRCm39)	V460E	probably damaging	Het
Gtf2f2	A	G	14: 76,245,182 (GRCm39)	S35P	probably benign	Het
Ifi203	A	G	1: 173,762,568 (GRCm39)		probably benign	Het
Ifi209	T	C	1: 173,472,281 (GRCm39)	V374A	probably damaging	Het
Kics2	G	A	10: 121,575,876 (GRCm39)		probably benign	Het
Lars1	A	G	18: 42,360,342 (GRCm39)	S705P	possibly damaging	Het
Lcmt1	A	G	7: 123,020,871 (GRCm39)		probably benign	Het
Limd1	T	C	9: 123,345,933 (GRCm39)	S571P	probably benign	Het
Limd1	T	A	9: 123,309,236 (GRCm39)	Y312N	probably benign	Het
Lin28b	A	T	10: 45,296,622 (GRCm39)	D125E	possibly damaging	Het
Lmtk3	T	C	7: 45,442,564 (GRCm39)	S416P	probably damaging	Het
Map7d3	T	C	X: 55,855,146 (GRCm39)	T446A	probably benign	Het
Masp1	T	A	16: 23,278,381 (GRCm39)	M523L	probably benign	Het
Mroh4	C	A	15: 74,483,092 (GRCm39)		probably null	Het
Mtmr6	G	A	14: 60,537,953 (GRCm39)	A651T	probably damaging	Het
Myocd	A	G	11: 65,074,296 (GRCm39)	S738P	probably benign	Het
Or10a2	A	T	7: 106,673,923 (GRCm39)	N296I	possibly damaging	Het
Or4d5	A	T	9: 40,011,861 (GRCm39)	F308L	probably benign	Het
Or52l1	A	G	7: 104,830,163 (GRCm39)	V134A	probably damaging	Het
Or5d46	A	T	2: 88,170,595 (GRCm39)	I229F	possibly damaging	Het
Or6c3b	A	T	10: 129,527,142 (GRCm39)	I256N	possibly damaging	Het
Parg	G	T	14: 31,936,281 (GRCm39)	V479L	probably damaging	Het
Pcdhb10	C	A	18: 37,546,834 (GRCm39)	H637N	possibly damaging	Het
Plekhg2	G	A	7: 28,059,900 (GRCm39)	T1118I	possibly damaging	Het
Podxl	T	C	6: 31,501,355 (GRCm39)	E400G	probably damaging	Het
Prss54	C	A	8: 96,292,337 (GRCm39)	V81F	probably damaging	Het
Pzp	A	G	6: 128,464,420 (GRCm39)	L1369P	probably benign	Het
Rfx8	A	T	1: 39,735,128 (GRCm39)		probably benign	Het
Rgs6	C	T	12: 83,138,571 (GRCm39)	P302S	probably benign	Het
Rnf148	A	C	6: 23,654,456 (GRCm39)	I180S	probably damaging	Het
Sacm1l	A	G	9: 123,408,061 (GRCm39)	D350G	probably benign	Het
Slc33a1	C	T	3: 63,850,753 (GRCm39)	G524S	probably benign	Het
Slc5a7	A	G	17: 54,591,221 (GRCm39)	V237A	probably benign	Het
Spink7	T	C	18: 62,727,356 (GRCm39)	D56G	probably damaging	Het
Syn3	A	G	10: 86,303,063 (GRCm39)	S31P	probably damaging	Het
Tesl1	A	T	X: 23,773,710 (GRCm39)	T404S	probably benign	Het
Thrb	C	A	14: 18,008,606 (GRCm38)	P110Q	possibly damaging	Het
Vmn2r76	G	T	7: 85,877,879 (GRCm39)	T506K	probably benign	Het
Vps45	A	G	3: 95,938,354 (GRCm39)	L486P	probably benign	Het
Zan	G	A	5: 137,444,473 (GRCm39)	T1823M	unknown	Het
Zdhhc6	T	A	19: 55,302,959 (GRCm39)	Q14L	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
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
R0007:Zfp990	UTSW	4	145,264,008 (GRCm39)	missense	probably benign	0.00
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

2015-04-16