Mutagenetix > Incidental Mutation

Incidental Mutation 'R6616:Zfp990'

524046

Institutional Source

Beutler Lab

Gene Symbol

Zfp990

Ensembl Gene

ENSMUSG00000078503

Gene Name

zinc finger protein 990

Synonyms

Gm13225

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.068) question?

Stock #

R6616 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

145510759-145539188 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 145537145 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 238 (I238L)

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: I238L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101367
Gene: ENSMUSG00000078503
AA Change: I238L

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: I238L

PolyPhen 2 Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)

SMART Domains

Protein: ENSMUSP00000101368
Gene: ENSMUSG00000078503
AA Change: I238L

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 92.8%

Validation Efficiency

100% (51/51)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	T	17: 24,384,535	H567L	probably damaging	Het
Adck1	T	A	12: 88,461,188	M525K	unknown	Het
Alpi	T	C	1: 87,101,114	I74V	possibly damaging	Het
Creb5	A	C	6: 53,685,310	Q197H	possibly damaging	Het
Cyp2b13	A	G	7: 26,085,881	K225R	probably benign	Het
Dock1	G	A	7: 135,108,492	E1143K	possibly damaging	Het
Eef2kmt	T	A	16: 5,247,482	D287V	probably damaging	Het
Eif2ak4	T	A	2: 118,454,845	Y1046*	probably null	Het
Fbxw10	T	A	11: 62,853,024	M252K	probably benign	Het
Fnip2	A	C	3: 79,480,882	H847Q	probably benign	Het
Frmd3	A	T	4: 74,187,488	D457V	probably damaging	Het
Gm13941	T	G	2: 111,101,175	E37D	unknown	Het
Gm8251	C	A	1: 44,061,474	V155L	possibly damaging	Het
Grin1	T	A	2: 25,292,110	I870F	possibly damaging	Het
Grin2b	A	C	6: 135,732,551	D1332E	probably benign	Het
Gtpbp4	G	A	13: 8,989,105	T201I	possibly damaging	Het
Heatr4	A	G	12: 83,980,130	C118R	probably benign	Het
Hltf	T	A	3: 20,109,487		probably null	Het
Hmcn1	C	T	1: 150,723,257		probably null	Het
Hpd	A	T	5: 123,172,060	L367Q	probably damaging	Het
Htr1b	A	G	9: 81,632,434	I40T	probably benign	Het
Il16	A	G	7: 83,646,476	S464P	probably benign	Het
Lrp1b	T	A	2: 40,699,631	D75V	unknown	Het
Map3k4	A	T	17: 12,271,344	L400Q	probably damaging	Het
Mcts2	T	A	2: 152,687,662	I131N	possibly damaging	Het
Mroh2b	A	C	15: 4,953,282	I1528L	probably benign	Het
Muc4	A	C	16: 32,782,008	D3467A	possibly damaging	Het
Mypn	A	T	10: 63,169,312	C339S	probably damaging	Het
Ncoa5	A	T	2: 165,010,563	Y130*	probably null	Het
Olfr1381	T	A	11: 49,552,041	V98E	probably damaging	Het
Olfr743	T	A	14: 50,533,907	I165N	probably benign	Het
Pcdha4	A	G	18: 36,953,900	T379A	probably benign	Het
Pkp4	C	G	2: 59,350,552	Y720*	probably null	Het
Prl5a1	C	T	13: 28,149,856	T114I	probably benign	Het
Rnd3	A	G	2: 51,134,157	S137P	probably damaging	Het
Rtel1	G	A	2: 181,352,786	E680K	possibly damaging	Het
Sbsn	T	A	7: 30,753,279	V573D	possibly damaging	Het
Scaf8	A	T	17: 3,168,055	L233F	unknown	Het
Sec23a	A	T	12: 58,997,155	I241K	possibly damaging	Het
Secisbp2l	A	T	2: 125,768,226	S258T	probably damaging	Het
Skint4	A	G	4: 112,118,230	H121R	possibly damaging	Het
Sptbn1	T	A	11: 30,124,030	E1346D	probably benign	Het
Srsf11	C	T	3: 158,023,344		probably benign	Het
Stpg4	A	G	17: 87,422,696	Y74H	probably damaging	Het
Tenm4	G	A	7: 96,553,496	R106H	probably benign	Het
Tmc4	A	G	7: 3,671,058	V374A	possibly damaging	Het
Unc45b	G	A	11: 82,911,819	R47Q	probably damaging	Het
Xirp1	A	G	9: 120,019,014	S268P	probably damaging	Het
Zswim5	A	G	4: 116,986,741	D992G	possibly 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
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'- GGGTAAAGCATTTGTCACATTCAC -3'

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

Posted On

2018-06-22