Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02537:Zfp518a'

297560

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp518a

Ensembl Gene

ENSMUSG00000049164

Gene Name

zinc finger protein 518A

Synonyms

6330417C12Rik, Zfp518, 2810401C22Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.926) question?

Stock #

IGL02537

Quality Score

Status

Chromosome

Chromosomal Location

40883149-40906391 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 40903874 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 1268 (S1268T)

Ref Sequence

ENSEMBL: ENSMUSP00000055956 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000050092]

AlphaFold

B2RRF6

Predicted Effect

probably benign
Transcript: ENSMUST00000050092
AA Change: S1268T

PolyPhen 2 Score 0.054 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000055956
Gene: ENSMUSG00000049164
AA Change: S1268T

Domain	Start	End	E-Value	Type
ZnF_C2H2	121	146	1.38e2	SMART
ZnF_C2H2	152	174	4.98e-1	SMART
ZnF_C2H2	179	203	6.75e0	SMART
ZnF_C2H2	209	231	4.34e-1	SMART
ZnF_C2H2	236	258	1.33e-1	SMART
ZnF_C2H2	264	287	9.44e-2	SMART
low complexity region	308	319	N/A	INTRINSIC
low complexity region	407	418	N/A	INTRINSIC
low complexity region	544	563	N/A	INTRINSIC
low complexity region	671	680	N/A	INTRINSIC
low complexity region	814	825	N/A	INTRINSIC
low complexity region	1147	1164	N/A	INTRINSIC
low complexity region	1417	1424	N/A	INTRINSIC
ZnF_C2H2	1444	1466	1.33e1	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a member of the krueppel C2H2-type zinc finger protein family. The encoded protein contains five zinc fingers and is likely a nuclear transcriptional regulator. Numerous transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2016]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A930011G23Rik	A	G	5: 99,377,236 (GRCm39)	S404P	probably damaging	Het
A930011G23Rik	G	A	5: 99,377,241 (GRCm39)	P402L	probably damaging	Het
Alx3	T	A	3: 107,512,175 (GRCm39)	M271K	possibly damaging	Het
Ank2	T	C	3: 126,749,565 (GRCm39)	E488G	probably damaging	Het
Arsk	T	A	13: 76,223,025 (GRCm39)	R191*	probably null	Het
B230217C12Rik	T	C	11: 97,733,011 (GRCm39)	S111P	possibly damaging	Het
Bckdhb	A	G	9: 83,871,194 (GRCm39)	I158V	probably benign	Het
Bub1	G	A	2: 127,643,267 (GRCm39)	Q1026*	probably null	Het
C8a	A	G	4: 104,703,148 (GRCm39)	M303T	probably damaging	Het
Cftr	A	G	6: 18,274,596 (GRCm39)	T905A	probably benign	Het
Ciao3	C	T	17: 25,997,916 (GRCm39)		probably benign	Het
Col14a1	A	T	15: 55,208,310 (GRCm39)	K132*	probably null	Het
Depdc5	T	A	5: 33,125,131 (GRCm39)	L531Q	probably damaging	Het
Dzip1	G	A	14: 119,146,988 (GRCm39)		probably benign	Het
F5	C	A	1: 164,020,686 (GRCm39)	L1054I	probably benign	Het
Gm4353	A	T	7: 115,682,987 (GRCm39)	I198N	probably damaging	Het
Il1a	T	A	2: 129,150,996 (GRCm39)	E9V	probably damaging	Het
Irag1	A	T	7: 110,470,680 (GRCm39)	Y678*	probably null	Het
Kif15	A	G	9: 122,822,914 (GRCm39)	T432A	probably benign	Het
Kndc1	T	C	7: 139,490,326 (GRCm39)	V276A	probably benign	Het
Or2aj5	A	T	16: 19,424,549 (GRCm39)	Y290N	probably damaging	Het
Or4a74	A	C	2: 89,439,739 (GRCm39)	S236A	possibly damaging	Het
Or6n2	A	T	1: 173,897,020 (GRCm39)	D52V	possibly damaging	Het
Palld	T	C	8: 62,137,968 (GRCm39)	S596G	probably benign	Het
Pdc	A	T	1: 150,208,760 (GRCm39)	D81V	possibly damaging	Het
Plcd4	A	G	1: 74,595,209 (GRCm39)	K361R	possibly damaging	Het
Plekhm1	T	A	11: 103,288,018 (GRCm39)	D43V	probably damaging	Het
Prpf31	G	T	7: 3,641,750 (GRCm39)	G356C	probably damaging	Het
Rbpj	T	A	5: 53,799,485 (GRCm39)	I100K	probably damaging	Het
Rufy3	A	G	5: 88,788,521 (GRCm39)		probably benign	Het
Slc40a1	C	T	1: 45,950,553 (GRCm39)	V300I	probably benign	Het
Slc6a12	A	T	6: 121,337,473 (GRCm39)	I386F	probably benign	Het
Strip1	C	T	3: 107,524,210 (GRCm39)	R569H	possibly damaging	Het
Tep1	A	T	14: 51,073,570 (GRCm39)	D1996E	probably damaging	Het
Tmem68	A	G	4: 3,569,649 (GRCm39)	S14P	possibly damaging	Het
Trav12-1	C	A	14: 53,775,980 (GRCm39)	C44*	probably null	Het
Uba1	G	A	X: 20,544,902 (GRCm39)	R693H	possibly damaging	Het
Ugt2b38	T	C	5: 87,569,590 (GRCm39)	T246A	possibly damaging	Het
Usp24	A	G	4: 106,249,564 (GRCm39)	Y1427C	probably damaging	Het
Vmn2r78	A	T	7: 86,603,496 (GRCm39)	Y558F	probably damaging	Het
Wdr54	A	G	6: 83,130,372 (GRCm39)	W221R	possibly damaging	Het
Xpo4	T	C	14: 57,831,290 (GRCm39)	T773A	probably benign	Het
Znfx1	T	C	2: 166,898,087 (GRCm39)	D279G	probably benign	Het

Other mutations in Zfp518a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00508:Zfp518a	APN	19	40,901,914 (GRCm39)	missense	probably damaging	0.99
IGL00647:Zfp518a	APN	19	40,903,130 (GRCm39)	missense	probably damaging	1.00
IGL01468:Zfp518a	APN	19	40,904,475 (GRCm39)	missense	probably benign	0.25
IGL02079:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02080:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02437:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02466:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02470:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02471:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02472:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02500:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02537:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02546:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02547:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02561:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02568:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02583:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02584:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02586:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02589:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02614:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02732:Zfp518a	APN	19	40,903,061 (GRCm39)	missense	probably damaging	1.00
IGL02961:Zfp518a	APN	19	40,903,462 (GRCm39)	missense	probably benign	0.44
IGL02985:Zfp518a	APN	19	40,902,111 (GRCm39)	missense	possibly damaging	0.92
R4630_zfp518a_157	UTSW	19	40,901,423 (GRCm39)	nonsense	probably null
R0137:Zfp518a	UTSW	19	40,904,310 (GRCm39)	missense	probably damaging	1.00
R0218:Zfp518a	UTSW	19	40,901,072 (GRCm39)	missense	probably benign	0.25
R0367:Zfp518a	UTSW	19	40,900,665 (GRCm39)	missense	probably damaging	1.00
R0575:Zfp518a	UTSW	19	40,900,759 (GRCm39)	missense	probably damaging	1.00
R1418:Zfp518a	UTSW	19	40,902,803 (GRCm39)	missense	probably damaging	1.00
R1795:Zfp518a	UTSW	19	40,904,000 (GRCm39)	missense	probably benign	0.05
R1965:Zfp518a	UTSW	19	40,901,954 (GRCm39)	missense	probably benign	0.00
R2076:Zfp518a	UTSW	19	40,902,771 (GRCm39)	missense	probably damaging	1.00
R3796:Zfp518a	UTSW	19	40,903,754 (GRCm39)	missense	probably damaging	1.00
R3799:Zfp518a	UTSW	19	40,903,754 (GRCm39)	missense	probably damaging	1.00
R3807:Zfp518a	UTSW	19	40,903,241 (GRCm39)	missense	possibly damaging	0.90
R3904:Zfp518a	UTSW	19	40,903,364 (GRCm39)	nonsense	probably null
R3959:Zfp518a	UTSW	19	40,901,142 (GRCm39)	missense	probably damaging	1.00
R4630:Zfp518a	UTSW	19	40,901,423 (GRCm39)	nonsense	probably null
R4662:Zfp518a	UTSW	19	40,900,304 (GRCm39)	missense	probably benign	0.01
R4844:Zfp518a	UTSW	19	40,903,340 (GRCm39)	missense	probably damaging	0.99
R4911:Zfp518a	UTSW	19	40,903,972 (GRCm39)	missense	probably benign	0.04
R4934:Zfp518a	UTSW	19	40,902,707 (GRCm39)	missense	probably benign	0.01
R4964:Zfp518a	UTSW	19	40,904,295 (GRCm39)	missense	possibly damaging	0.94
R4966:Zfp518a	UTSW	19	40,904,295 (GRCm39)	missense	possibly damaging	0.94
R5373:Zfp518a	UTSW	19	40,901,954 (GRCm39)	missense	probably benign	0.00
R5374:Zfp518a	UTSW	19	40,901,954 (GRCm39)	missense	probably benign	0.00
R5378:Zfp518a	UTSW	19	40,904,300 (GRCm39)	missense	probably damaging	1.00
R5509:Zfp518a	UTSW	19	40,903,845 (GRCm39)	missense	possibly damaging	0.60
R5891:Zfp518a	UTSW	19	40,900,877 (GRCm39)	missense	probably damaging	1.00
R6187:Zfp518a	UTSW	19	40,903,890 (GRCm39)	missense	probably benign	0.03
R6259:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign	0.01
R6260:Zfp518a	UTSW	19	40,902,567 (GRCm39)	missense	probably benign	0.00
R6763:Zfp518a	UTSW	19	40,902,192 (GRCm39)	missense	probably damaging	1.00
R7419:Zfp518a	UTSW	19	40,902,207 (GRCm39)	missense	possibly damaging	0.94
R7448:Zfp518a	UTSW	19	40,902,601 (GRCm39)	missense	possibly damaging	0.70
R7719:Zfp518a	UTSW	19	40,901,212 (GRCm39)	missense	probably benign	0.01
R7753:Zfp518a	UTSW	19	40,904,249 (GRCm39)	missense	possibly damaging	0.47
R8181:Zfp518a	UTSW	19	40,902,415 (GRCm39)	missense	probably damaging	1.00
R8470:Zfp518a	UTSW	19	40,904,162 (GRCm39)	missense	probably benign	0.01
R8905:Zfp518a	UTSW	19	40,902,780 (GRCm39)	missense	probably damaging	1.00
R8911:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8912:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8917:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8918:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R8968:Zfp518a	UTSW	19	40,901,870 (GRCm39)	missense	possibly damaging	0.87
R9029:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign
R9335:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign
R9336:Zfp518a	UTSW	19	40,901,225 (GRCm39)	missense	probably benign
R9581:Zfp518a	UTSW	19	40,900,156 (GRCm39)	missense	probably damaging	1.00
R9750:Zfp518a	UTSW	19	40,903,889 (GRCm39)	missense	possibly damaging	0.95
X0028:Zfp518a	UTSW	19	40,903,377 (GRCm39)	missense	possibly damaging	0.61
X0065:Zfp518a	UTSW	19	40,902,626 (GRCm39)	nonsense	probably null

Posted On

2015-04-16