Mutagenetix > Incidental Mutation

Incidental Mutation 'R7487:Zfp990'

580238

Institutional Source

Beutler Lab

Gene Symbol

Zfp990

Ensembl Gene

ENSMUSG00000078503

Gene Name

zinc finger protein 990

Synonyms

Gm13225

MMRRC Submission

045561-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.070) question?

Stock #

R7487 (G1)

Quality Score

177.009

Status

Validated

Chromosome

Chromosomal Location

145510759-145539188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 145537587 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Tyrosine at position 385 (C385Y)

Ref Sequence

ENSEMBL: ENSMUSP00000101368 (fasta)

Gene Model

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

AlphaFold

B1AVN5

Predicted Effect

probably damaging
Transcript: ENSMUST00000105741
AA Change: C385Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: C385Y

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 damaging
Transcript: ENSMUST00000105742
AA Change: C385Y

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: C385Y

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

0.6467

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (89/89)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110002E22Rik	A	T	3: 138,066,868	D606V	probably damaging	Het
1700009N14Rik	T	A	4: 39,450,929	V45E	probably damaging	Het
2510009E07Rik	C	T	16: 21,653,729	V74M	probably damaging	Het
Abca2	C	T	2: 25,437,903	T739M	probably benign	Het
Abra	T	C	15: 41,869,553	E39G	probably damaging	Het
Adam34	A	T	8: 43,651,154	C485S	probably damaging	Het
Add2	G	T	6: 86,093,450	V175F	possibly damaging	Het
Alk	T	A	17: 71,949,898	K655N	probably benign	Het
Ap3m1	A	G	14: 21,038,039	V317A	probably benign	Het
Astn1	A	G	1: 158,610,782		probably null	Het
Atm	A	T	9: 53,524,354	Y219N	probably benign	Het
Cep128	C	T	12: 90,999,630	A1068T	probably benign	Het
Cnksr3	T	C	10: 7,135,097	Q250R	probably benign	Het
Cst7	A	G	2: 150,577,704	T97A	probably benign	Het
Ctps	G	A	4: 120,558,800	L209F	probably damaging	Het
Cyp2d10	A	T	15: 82,404,592	F230I	probably benign	Het
Daam2	T	C	17: 49,486,482	N336D	probably benign	Het
Dchs2	T	C	3: 83,356,306	S3294P	probably damaging	Het
Dhx36	G	T	3: 62,484,202	N574K	possibly damaging	Het
Dock10	G	T	1: 80,585,048	Q533K	probably benign	Het
Dync2h1	A	G	9: 7,132,041	S1589P	probably benign	Het
Enpp3	T	A	10: 24,805,923	Y295F	probably benign	Het
Esrrg	T	A	1: 188,146,423	Y234N	probably benign	Het
Fadd	A	C	7: 144,580,725	V141G	probably damaging	Het
Fam114a2	C	T	11: 57,513,689	G83D	probably damaging	Het
Fam170b	T	A	14: 32,835,819	C204S	probably damaging	Het
Fam186a	T	A	15: 99,942,136	I2076F	possibly damaging	Het
Fdxacb1	G	A	9: 50,770,219	V147I	possibly damaging	Het
Fopnl	T	C	16: 14,311,104	D85G	probably benign	Het
Frem2	C	A	3: 53,654,549	V846F	probably benign	Het
Fry	G	A	5: 150,414,574	S1449N	possibly damaging	Het
Gucy1b2	A	G	14: 62,448,223	F98L	probably damaging	Het
Hps1	T	C	19: 42,756,261	Y658C	probably damaging	Het
Igkv3-9	T	A	6: 70,588,522	L35Q	probably damaging	Het
Irx2	A	G	13: 72,630,620	Y101C	probably damaging	Het
Kcnj11	G	T	7: 46,098,841	R353S	probably benign	Het
Kyat3	C	T	3: 142,726,194	Q228*	probably null	Het
Lama3	T	A	18: 12,419,237	D415E	probably benign	Het
Lcn3	G	A	2: 25,766,162		probably null	Het
Lin7b	T	C	7: 45,369,940	E68G	possibly damaging	Het
Lmbr1	T	A	5: 29,254,264	K379M	probably benign	Het
Lrig1	A	G	6: 94,606,118	S1006P	probably benign	Het
Lrrc37a	T	G	11: 103,498,219	T2127P	unknown	Het
Map4	A	G	9: 110,027,715	D151G	probably damaging	Het
March1	A	T	8: 66,456,074	T149S	probably benign	Het
Msh4	A	T	3: 153,863,510	F809I	probably damaging	Het
Muc16	G	A	9: 18,584,799	P6699S	possibly damaging	Het
Mxi1	A	T	19: 53,371,657	D270V	probably damaging	Het
Myh6	A	T	14: 54,953,496	C907*	probably null	Het
Myo18b	T	C	5: 112,834,433	R1145G	possibly damaging	Het
Nkx2-6	A	C	14: 69,171,940	N47H	probably benign	Het
Nol7	G	A	13: 43,398,600	A66T	probably damaging	Het
Ntrk3	T	C	7: 78,250,713	N626S	probably damaging	Het
Nwd1	A	G	8: 72,666,638	Y77C	unknown	Het
Olfr1057	A	T	2: 86,375,131	Y94N	probably damaging	Het
Olfr109	G	T	17: 37,466,566	R120L	probably damaging	Het
Olfr1413	G	A	1: 92,573,795	G208D	possibly damaging	Het
Olfr358	A	C	2: 37,004,774	V280G	probably damaging	Het
Olfr892-ps1	A	G	9: 38,190,060	S112G	probably damaging	Het
Otop3	A	G	11: 115,345,000	D486G	probably benign	Het
Pak1ip1	A	G	13: 41,009,255	K178R	probably benign	Het
Pcsk1	G	A	13: 75,110,883	G259S	probably benign	Het
Pde6a	A	G	18: 61,249,960	D338G	probably damaging	Het
Pias4	A	T	10: 81,163,972	D82E	probably benign	Het
Plekha5	C	A	6: 140,570,333	Q771K	probably benign	Het
Plekhh3	C	A	11: 101,165,579	A397S	possibly damaging	Het
Prg4	G	T	1: 150,455,905	T339N	unknown	Het
Prss22	A	T	17: 23,997,997	I3N	probably damaging	Het
Rasgrp1	T	C	2: 117,287,943	I522V	probably damaging	Het
Rspo2	T	C	15: 43,078,114	T138A	probably benign	Het
Rtcb	C	T	10: 85,953,469	G70S	probably benign	Het
Selenov	A	T	7: 28,290,378	S234T	probably damaging	Het
Shtn1	T	C	19: 59,003,860	T429A	probably damaging	Het
Slc4a3	G	T	1: 75,553,377	R622L	probably benign	Het
Smc2	T	C	4: 52,478,448	I1015T	probably damaging	Het
Spata9	G	T	13: 75,967,840	V3F	possibly damaging	Het
Tlr4	T	C	4: 66,924,422	I105T	probably benign	Het
Trav6d-4	A	T	14: 52,753,639	Y47F	possibly damaging	Het
Ttn	A	T	2: 76,827,033	I12450N	unknown	Het
Umad1	G	T	6: 8,270,560	A21S	probably damaging	Het
Unc5a	G	A	13: 54,996,549	R229H	probably benign	Het
Vmn1r216	A	T	13: 23,099,860	M238L	probably damaging	Het
Vps16	T	A	2: 130,439,057	C255*	probably null	Het
Wdr89	A	G	12: 75,632,614	F289L	probably benign	Het
Zfp180	A	T	7: 24,106,100	H648L	probably damaging	Het
Zfp735	A	G	11: 73,690,328	K64E	possibly damaging	Het
Zswim3	G	T	2: 164,820,215	S205I	probably damaging	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
R4617:Zfp990	UTSW	4	145537046	missense	possibly damaging	0.59
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
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'- ATGTAGTGAATGTGACAAATGCTTT -3'
(R):5'- CATCCACTGCATTTGTAAGGTTTC -3'

Sequencing Primer
(F):5'- GTGAATGTGACAAATGCTTTACCCG -3'
(R):5'- CAGACTGCCTTTTTCAGTAAAGC -3'

Posted On

2019-10-07