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

Essential gene?

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

Stock #

R4617 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

145237329-145265751 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 145263616 bp (GRCm39)

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: 71,369,493 (GRCm39)	I363V	probably benign	Het
Acaa1a	T	A	9: 119,178,006 (GRCm39)	S279R	probably damaging	Het
Akr1cl	A	G	1: 65,060,550 (GRCm39)	C156R	probably damaging	Het
Arhgap11a	G	A	2: 113,664,423 (GRCm39)	T620M	probably benign	Het
Brinp1	A	G	4: 68,681,198 (GRCm39)	I444T	possibly damaging	Het
Ccdc150	A	G	1: 54,394,913 (GRCm39)	I760V	probably benign	Het
Cdh26	G	A	2: 178,102,435 (GRCm39)		probably benign	Het
Cpd	A	G	11: 76,731,441 (GRCm39)	L255P	probably damaging	Het
Cyfip2	A	G	11: 46,144,845 (GRCm39)	Y670H	probably damaging	Het
Disp2	G	A	2: 118,620,643 (GRCm39)	M458I	probably benign	Het
Dot1l	T	C	10: 80,620,918 (GRCm39)	I563T	probably damaging	Het
Egf	A	T	3: 129,484,442 (GRCm39)	S1001T	probably benign	Het
Elfn1	A	G	5: 139,957,764 (GRCm39)	Y256C	probably damaging	Het
Exoc4	C	T	6: 33,839,139 (GRCm39)	T725I	probably benign	Het
Fam168b	A	G	1: 34,859,063 (GRCm39)	V72A	possibly damaging	Het
Fbxw20	C	T	9: 109,046,631 (GRCm39)	S443N	probably damaging	Het
Flacc1	A	T	1: 58,700,601 (GRCm39)	D301E	probably benign	Het
Flrt2	T	C	12: 95,747,003 (GRCm39)	V447A	possibly damaging	Het
Gm4846	A	G	1: 166,323,550 (GRCm39)	S58P	probably damaging	Het
Gpr20	T	C	15: 73,567,585 (GRCm39)	N268S	probably benign	Het
Lpcat2b	T	C	5: 107,581,865 (GRCm39)	L398P	possibly damaging	Het
Mapk8ip3	G	A	17: 25,123,761 (GRCm39)	P587L	probably damaging	Het
Mfap4	C	A	11: 61,376,335 (GRCm39)		probably benign	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mrpl38	T	C	11: 116,023,278 (GRCm39)	D325G	probably damaging	Het
Mtmr12	A	G	15: 12,270,132 (GRCm39)	E430G	probably damaging	Het
Mup18	T	A	4: 61,590,154 (GRCm39)	I125F	possibly damaging	Het
Ogdhl	A	G	14: 32,047,842 (GRCm39)	R31G	probably benign	Het
Or13f5	A	T	4: 52,825,399 (GRCm39)	M1L	probably benign	Het
Pcdh1	C	A	18: 38,330,913 (GRCm39)	V697L	probably benign	Het
Pcdhga9	T	C	18: 37,871,553 (GRCm39)	Y461H	probably damaging	Het
Pdzrn4	A	G	15: 92,667,723 (GRCm39)	Y625C	probably damaging	Het
Pkd2l1	C	A	19: 44,142,573 (GRCm39)	A490S	probably damaging	Het
Poglut2	A	C	1: 44,149,180 (GRCm39)	F453V	probably damaging	Het
Ptprn	T	A	1: 75,228,931 (GRCm39)	D828V	possibly damaging	Het
Rgs12	T	A	5: 35,177,700 (GRCm39)	W97R	probably damaging	Het
Rnf10	T	A	5: 115,386,762 (GRCm39)	Q508L	probably damaging	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sec24b	A	T	3: 129,834,413 (GRCm39)	S126T	possibly damaging	Het
Slc6a5	A	G	7: 49,561,768 (GRCm39)	N100S	probably benign	Het
Speer1j	T	C	5: 11,553,798 (GRCm39)	S7P	probably benign	Het
Stam2	A	T	2: 52,605,716 (GRCm39)	D167E	probably benign	Het
Stambp	G	A	6: 83,538,960 (GRCm39)	Q147*	probably null	Het
Tbc1d32	A	G	10: 56,047,000 (GRCm39)	V556A	possibly damaging	Het
Tll2	T	C	19: 41,087,075 (GRCm39)	D592G	probably benign	Het
Tmem199	A	T	11: 78,400,508 (GRCm39)		probably benign	Het
Traip	T	A	9: 107,847,218 (GRCm39)	N352K	probably benign	Het
Trmt1l	C	T	1: 151,329,799 (GRCm39)	Q581*	probably null	Het
Usp54	C	A	14: 20,600,406 (GRCm39)	A1444S	probably benign	Het
Vsig1	G	T	X: 139,827,135 (GRCm39)	A95S	probably benign	Het
Xdh	G	A	17: 74,225,389 (GRCm39)	T471I	probably damaging	Het
Zdhhc19	A	G	16: 32,316,494 (GRCm39)	D83G	probably damaging	Het
Zfp352	A	G	4: 90,113,318 (GRCm39)	K486R	probably benign	Het
Zfp451	A	G	1: 33,841,752 (GRCm39)		probably benign	Het
Zfp963	A	T	8: 70,195,944 (GRCm39)	S170T	probably benign	Het
Zfp970	A	G	2: 177,167,961 (GRCm39)	I512V	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
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
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

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