Mutagenetix > Incidental Mutation

Incidental Mutation 'R4617:Zfp990'

351104

Institutional Source

Beutler Lab

Gene Symbol

Zfp990

Ensembl Gene

ENSMUSG00000078503

Gene Name

zinc finger protein 990

Synonyms

Gm13225

MMRRC Submission

041828-MU

Accession Numbers

Is this an essential gene?

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

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145510759-145539188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145537046 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 205 (I205V)

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: I205V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: I205V

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: I205V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: I205V

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

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 94.9%

Validation Efficiency

96% (66/69)

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca12	T	C	1: 71,330,334	I363V	probably benign	Het
Acaa1a	T	A	9: 119,348,940	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,021,391	C156R	probably damaging	Het
Als2cr12	A	T	1: 58,661,442	D301E	probably benign	Het
Arhgap11a	G	A	2: 113,834,078	T620M	probably benign	Het
Brinp1	A	G	4: 68,762,961	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,355,754	I760V	probably benign	Het
Cdh26	G	A	2: 178,460,642		probably benign	Het
Cpd	A	G	11: 76,840,615	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,254,018	Y670H	probably damaging	Het
Disp2	G	A	2: 118,790,162	M458I	probably benign	Het
Dot1l	T	C	10: 80,785,084	I563T	probably damaging	Het
Egf	A	T	3: 129,690,793	S1001T	probably benign	Het
Elfn1	A	G	5: 139,972,009	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,862,204	T725I	probably benign	Het
Fam168b	A	G	1: 34,819,982	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,217,563	S443N	probably damaging	Het
Flrt2	T	C	12: 95,780,229	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,495,981	S58P	probably damaging	Het
Gm7102	C	T	19: 61,175,926	G24R	unknown	Het
Gm8906	T	C	5: 11,503,831	S7P	probably benign	Het
Gpr20	T	C	15: 73,695,736	N268S	probably benign	Het
Kdelc1	A	C	1: 44,110,020	F453V	probably damaging	Het
Lpcat2b	T	C	5: 107,433,999	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 24,904,787	P587L	probably damaging	Het
Mfap4	C	A	11: 61,485,509		probably benign	Het
Mrpl38	T	C	11: 116,132,452	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,046	E430G	probably damaging	Het
Mup18	T	A	4: 61,671,917	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,325,885	R31G	probably benign	Het
Olfr275	A	T	4: 52,825,399	M1L	probably benign	Het
Pcdh1	C	A	18: 38,197,860	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,738,500	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,769,842	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,154,134	A490S	probably damaging	Het
Ptprn	T	A	1: 75,252,287	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,020,356	W97R	probably damaging	Het
Rnf10	T	A	5: 115,248,703	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,147,663	C537R	probably damaging	Het
Sec24b	A	T	3: 130,040,764	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,912,020	N100S	probably benign	Het
Stam2	A	T	2: 52,715,704	D167E	probably benign	Het
Stambp	G	A	6: 83,561,978	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,170,904	V556A	possibly damaging	Het
Tll2	T	C	19: 41,098,636	D592G	probably benign	Het
Tmem199	A	T	11: 78,509,682		probably benign	Het
Traip	T	A	9: 107,970,019	N352K	probably benign	Het
Trmt1l	C	T	1: 151,454,048	Q581*	probably null	Het
Usp54	C	A	14: 20,550,338	A1444S	probably benign	Het
Vsig1	G	T	X: 140,926,386	A95S	probably benign	Het
Xdh	G	A	17: 73,918,394	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,497,676	D83G	probably damaging	Het
Zfp352	A	G	4: 90,225,081	K486R	probably benign	Het
Zfp451	A	G	1: 33,802,671		probably benign	Het
Zfp963	A	T	8: 69,743,294	S170T	probably benign	Het
Zfp970	A	G	2: 177,476,168	I512V	probably benign	Het

Other mutations in Zfp990

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00841:Zfp990	APN	4	145537868	missense	probably damaging	0.99
IGL01774:Zfp990	APN	4	145536948	missense	probably benign	0.28
IGL01895:Zfp990	APN	4	145536857	missense	probably damaging	0.97
IGL01895:Zfp990	APN	4	145536858	missense	probably damaging	0.99
IGL02349:Zfp990	APN	4	145530877	utr 5 prime	probably benign
IGL02598:Zfp990	APN	4	145536963	missense	possibly damaging	0.67
IGL02940:Zfp990	APN	4	145534922	splice site	probably null
IGL03026:Zfp990	APN	4	145537110	missense	possibly damaging	0.54
R0007:Zfp990	UTSW	4	145537438	missense	probably benign	0.00
R0352:Zfp990	UTSW	4	145536604	missense	probably damaging	0.99
R0631:Zfp990	UTSW	4	145537302	missense	possibly damaging	0.89
R1490:Zfp990	UTSW	4	145537283	missense	probably benign	0.44
R1537:Zfp990	UTSW	4	145536996	missense	possibly damaging	0.67
R1832:Zfp990	UTSW	4	145538210	missense	possibly damaging	0.51
R1956:Zfp990	UTSW	4	145534882	missense	probably damaging	1.00
R1982:Zfp990	UTSW	4	145536869	missense	probably damaging	0.99
R2024:Zfp990	UTSW	4	145537404	missense	possibly damaging	0.69
R2097:Zfp990	UTSW	4	145537322	missense	possibly damaging	0.94
R2235:Zfp990	UTSW	4	145537891	missense	probably damaging	0.99
R4194:Zfp990	UTSW	4	145536977	splice site	probably null
R4195:Zfp990	UTSW	4	145536977	splice site	probably null
R4418:Zfp990	UTSW	4	145536728	missense	possibly damaging	0.87
R4736:Zfp990	UTSW	4	145536942	missense	possibly damaging	0.95
R4880:Zfp990	UTSW	4	145537920	missense	probably benign
R4941:Zfp990	UTSW	4	145536837	missense	probably damaging	1.00
R5014:Zfp990	UTSW	4	145538099	missense	possibly damaging	0.93
R5945:Zfp990	UTSW	4	145538043	missense	probably damaging	0.98
R6238:Zfp990	UTSW	4	145537913	missense	probably damaging	1.00
R6255:Zfp990	UTSW	4	145537789	missense	probably benign	0.00
R6267:Zfp990	UTSW	4	145538103	missense	possibly damaging	0.59
R6296:Zfp990	UTSW	4	145538103	missense	possibly damaging	0.59
R6412:Zfp990	UTSW	4	145537568	missense	probably benign	0.00
R6616:Zfp990	UTSW	4	145537145	missense	probably benign	0.01
R6701:Zfp990	UTSW	4	145538178	missense	probably benign	0.45
R6720:Zfp990	UTSW	4	145536927	missense	possibly damaging	0.67
R7015:Zfp990	UTSW	4	145536635	missense	probably damaging	0.99
R7487:Zfp990	UTSW	4	145537587	missense	probably damaging	1.00
R7722:Zfp990	UTSW	4	145536962	missense	possibly damaging	0.86
R8749:Zfp990	UTSW	4	145537586	missense	probably damaging	0.96
R8785:Zfp990	UTSW	4	145537676	missense	probably benign	0.00
R9161:Zfp990	UTSW	4	145534939	missense	possibly damaging	0.71
R9211:Zfp990	UTSW	4	145537601	missense	probably damaging	0.98
Z1176:Zfp990	UTSW	4	145536811	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- CCCAGGAACACTAAAGAAGTTTG -3'
(R):5'- GACTACATTTGTGAGGTGTCTCTCC -3'

Sequencing Primer
(F):5'- GTGTCAATCAAGGAATTTACATGCAG -3'
(R):5'- TGAGGTGTCTCTCCTTTATGAATTC -3'

Posted On

2015-10-08