Mutagenetix > Incidental Mutation

Incidental Mutation 'R0058:Zfp644'

34327

Institutional Source

Beutler Lab

Gene Symbol

Zfp644

Ensembl Gene

ENSMUSG00000049606

Gene Name

zinc finger protein 644

Synonyms

D5Ertd689e, 1110068L01Rik, Zep-2, BM-005

MMRRC Submission

038352-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.277) question?

Stock #

R0058 (G1)

Quality Score

184

Status

Validated

Chromosome

Chromosomal Location

106616739-106697287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106637003 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 559 (S559R)

Ref Sequence

ENSEMBL: ENSMUSP00000108316 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000045466] [ENSMUST00000112695] [ENSMUST00000112696] [ENSMUST00000112698] [ENSMUST00000122980] [ENSMUST00000124263] [ENSMUST00000127434] [ENSMUST00000135108] [ENSMUST00000137285] [ENSMUST00000155495]

AlphaFold

E9QA22

Predicted Effect

probably benign
Transcript: ENSMUST00000045466
AA Change: S559R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: S559R

Domain	Start	End	E-Value	Type
ZnF_C2H2	411	433	1.89e-1	SMART
ZnF_C2H2	449	471	6.52e-5	SMART
ZnF_C2H2	497	519	1.99e0	SMART
ZnF_C2H2	526	549	6.4e0	SMART
ZnF_C2H2	587	610	3.72e0	SMART
low complexity region	668	676	N/A	INTRINSIC
low complexity region	771	788	N/A	INTRINSIC
ZnF_C2H2	928	950	1.07e0	SMART
ZnF_C2H2	1003	1025	1.43e-1	SMART
low complexity region	1199	1212	N/A	INTRINSIC
ZnF_C2H2	1226	1252	5.4e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112695

SMART Domains

Protein: ENSMUSP00000108315
Gene: ENSMUSG00000049606

Domain	Start	End	E-Value	Type
low complexity region	12	25	N/A	INTRINSIC
Blast:ZnF_C2H2	39	65	2e-14	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000112696
AA Change: S559R

PolyPhen 2 Score 0.685 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: S559R

Domain	Start	End	E-Value	Type
ZnF_C2H2	411	433	1.89e-1	SMART
ZnF_C2H2	449	471	6.52e-5	SMART
ZnF_C2H2	497	519	1.99e0	SMART
ZnF_C2H2	526	549	6.4e0	SMART
ZnF_C2H2	587	610	3.72e0	SMART
low complexity region	668	676	N/A	INTRINSIC
low complexity region	767	783	N/A	INTRINSIC
low complexity region	802	819	N/A	INTRINSIC
ZnF_C2H2	959	981	1.07e0	SMART
ZnF_C2H2	1034	1056	1.43e-1	SMART
low complexity region	1230	1243	N/A	INTRINSIC
ZnF_C2H2	1257	1283	5.4e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000112698
AA Change: S559R

PolyPhen 2 Score 0.228 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: S559R

Domain	Start	End	E-Value	Type
ZnF_C2H2	411	433	1.89e-1	SMART
ZnF_C2H2	449	471	6.52e-5	SMART
ZnF_C2H2	497	519	1.99e0	SMART
ZnF_C2H2	526	549	6.4e0	SMART
ZnF_C2H2	587	610	3.72e0	SMART
low complexity region	668	676	N/A	INTRINSIC
low complexity region	771	788	N/A	INTRINSIC
ZnF_C2H2	928	950	1.07e0	SMART
ZnF_C2H2	1003	1025	1.43e-1	SMART
low complexity region	1199	1212	N/A	INTRINSIC
ZnF_C2H2	1226	1252	5.4e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000122980

Predicted Effect

probably benign
Transcript: ENSMUST00000124263

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125895

Predicted Effect

probably benign
Transcript: ENSMUST00000127434
AA Change: S559R

PolyPhen 2 Score 0.150 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: S559R

Domain	Start	End	E-Value	Type
ZnF_C2H2	411	433	1.89e-1	SMART
ZnF_C2H2	449	471	6.52e-5	SMART
ZnF_C2H2	497	519	1.99e0	SMART
ZnF_C2H2	526	549	6.4e0	SMART
ZnF_C2H2	587	610	3.72e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135108

Predicted Effect

probably benign
Transcript: ENSMUST00000137285

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149128

Predicted Effect

probably benign
Transcript: ENSMUST00000155495

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

100% (74/74)

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 zinc finger transcription factor that may play a role in eye development. Defects in this gene have been associated with high myopia. Three transcript variants encoding two different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for an ENU-induced allele exhibit normal blood lymphocyte populations. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ache	T	G	5: 137,290,842	V270G	probably damaging	Het
Acss1	A	T	2: 150,628,539	W394R	probably damaging	Het
Adgrv1	A	G	13: 81,182,672	V6088A	possibly damaging	Het
Ankrd36	A	G	11: 5,630,691		probably benign	Het
Anxa1	A	T	19: 20,383,777	Y84N	probably damaging	Het
Arnt2	G	A	7: 84,347,530	R63C	probably damaging	Het
Avpr1b	A	G	1: 131,599,786	T16A	probably benign	Het
Bpifb1	G	A	2: 154,206,540	R165H	possibly damaging	Het
Cables1	A	G	18: 11,923,413	E316G	possibly damaging	Het
Cadm1	A	T	9: 47,850,331	I427L	probably damaging	Het
Ccdc97	T	C	7: 25,715,980	D86G	probably benign	Het
Cgnl1	C	A	9: 71,641,397	D1081Y	probably damaging	Het
Cgnl1	T	A	9: 71,724,840	R410W	probably damaging	Het
Cntnap4	G	A	8: 112,785,784	E593K	probably damaging	Het
Dazap1	T	C	10: 80,261,581		probably benign	Het
Dip2b	A	G	15: 100,215,240	E1512G	probably benign	Het
Dock1	G	A	7: 135,108,761	V1171M	possibly damaging	Het
Dock5	A	T	14: 67,781,036	F1230Y	probably benign	Het
Dym	G	A	18: 75,043,172	E15K	possibly damaging	Het
Ednra	C	A	8: 77,667,322		probably null	Het
Faf1	A	G	4: 109,736,624	Q133R	probably benign	Het
Fbxw28	A	G	9: 109,328,211	I323T	probably benign	Het
Fcer2a	T	C	8: 3,688,111		probably benign	Het
Fmo2	A	T	1: 162,886,324	S204R	probably benign	Het
Frmd4b	A	G	6: 97,423,499	V63A	probably damaging	Het
Fzd8	G	A	18: 9,213,985	A356T	possibly damaging	Het
Ghitm	A	G	14: 37,131,592	L97P	probably damaging	Het
Gins4	A	G	8: 23,229,510		probably benign	Het
Golga3	T	A	5: 110,202,777	F766Y	possibly damaging	Het
Hapln1	T	C	13: 89,607,878	I267T	probably benign	Het
Helz	A	T	11: 107,672,558		probably benign	Het
Herc2	T	C	7: 56,170,483	V2851A	possibly damaging	Het
Igkv8-18	G	A	6: 70,356,121		probably benign	Het
Igll1	A	T	16: 16,863,876	V5E	probably benign	Het
Irx3	T	C	8: 91,800,540	T179A	possibly damaging	Het
Kif16b	A	G	2: 142,857,305		probably null	Het
Limk1	A	T	5: 134,659,871	W507R	probably damaging	Het
Marf1	C	T	16: 14,142,534	A549T	probably damaging	Het
Mtif3	C	A	5: 146,956,921	V159F	probably benign	Het
Myh6	C	T	14: 54,963,404	R169Q	probably damaging	Het
Ncoa7	T	A	10: 30,647,541	D887V	probably damaging	Het
Obox7	C	T	7: 14,664,388	P76S	probably benign	Het
Olfr1335	A	G	4: 118,809,480	M128T	probably benign	Het
Olfr323	A	T	11: 58,625,668	I126N	probably damaging	Het
Pitpnm2	G	A	5: 124,124,030	A862V	probably damaging	Het
Pkd1	G	C	17: 24,564,703	A162P	probably benign	Het
Plce1	A	G	19: 38,525,184	D309G	possibly damaging	Het
Plk4	T	C	3: 40,805,872	V401A	probably benign	Het
Prdx3	T	C	19: 60,874,512		probably benign	Het
Prrc2c	C	T	1: 162,698,884	V253I	unknown	Het
Ranbp2	T	A	10: 58,480,531	S2358T	probably damaging	Het
Setd2	T	A	9: 110,594,426	V2183E	probably damaging	Het
Sgsm1	T	A	5: 113,285,087	S232C	probably damaging	Het
Skint6	A	T	4: 113,046,815		probably benign	Het
Slc15a2	A	G	16: 36,754,547	I531T	probably benign	Het
Slc36a1	C	T	11: 55,221,994		probably benign	Het
Sorbs2	T	A	8: 45,785,254		probably null	Het
Sorbs2	C	A	8: 45,796,263	D831E	probably damaging	Het
Sptan1	T	C	2: 29,993,696		probably null	Het
Stam	T	C	2: 14,138,141	C336R	probably damaging	Het
Stil	G	T	4: 115,041,298	A1042S	probably damaging	Het
Stxbp5l	T	A	16: 37,142,374	D773V	possibly damaging	Het
Sugct	A	T	13: 17,672,581	L39Q	probably damaging	Het
Tep1	A	G	14: 50,834,065	V2041A	possibly damaging	Het
Tex15	C	T	8: 33,581,502		probably benign	Het
Tlr9	T	G	9: 106,224,965	L485R	possibly damaging	Het
Tmem207	A	G	16: 26,524,829		probably benign	Het
Triml2	T	C	8: 43,185,269		probably benign	Het
Trip6	A	G	5: 137,310,845		probably benign	Het
Tspear	T	C	10: 77,869,631	F288L	probably benign	Het
Vmn1r179	C	T	7: 23,929,167	T261I	possibly damaging	Het

Other mutations in Zfp644

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Zfp644	APN	5	106638637	critical splice acceptor site	probably null
IGL01654:Zfp644	APN	5	106635930	missense	probably damaging	1.00
IGL01967:Zfp644	APN	5	106638243	missense	probably damaging	1.00
IGL02132:Zfp644	APN	5	106635894	missense	probably benign	0.22
IGL02164:Zfp644	APN	5	106638099	missense	probably benign	0.01
IGL02303:Zfp644	APN	5	106637314	missense	probably damaging	1.00
IGL03091:Zfp644	APN	5	106636858	missense	probably damaging	1.00
IGL03102:Zfp644	APN	5	106637268	missense	probably damaging	0.99
IGL03298:Zfp644	APN	5	106635101	missense	possibly damaging	0.93
PIT4466001:Zfp644	UTSW	5	106636477	missense	probably damaging	0.99
R0012:Zfp644	UTSW	5	106635043	missense	probably benign	0.11
R0012:Zfp644	UTSW	5	106635043	missense	probably benign	0.11
R0038:Zfp644	UTSW	5	106635043	missense	probably benign	0.11
R0038:Zfp644	UTSW	5	106635043	missense	probably benign	0.11
R0058:Zfp644	UTSW	5	106637003	missense	possibly damaging	0.69
R0178:Zfp644	UTSW	5	106636905	missense	probably damaging	1.00
R0497:Zfp644	UTSW	5	106638333	missense	probably damaging	0.99
R1302:Zfp644	UTSW	5	106634899	missense	probably damaging	1.00
R1337:Zfp644	UTSW	5	106637554	missense	probably damaging	0.99
R1400:Zfp644	UTSW	5	106637470	splice site	probably null
R1597:Zfp644	UTSW	5	106638333	missense	probably damaging	0.99
R1911:Zfp644	UTSW	5	106635271	missense	possibly damaging	0.95
R2021:Zfp644	UTSW	5	106635682	missense	possibly damaging	0.84
R2196:Zfp644	UTSW	5	106638603	start codon destroyed	probably null	0.02
R2256:Zfp644	UTSW	5	106635845	missense	probably damaging	1.00
R2311:Zfp644	UTSW	5	106634956	missense	probably benign	0.21
R2420:Zfp644	UTSW	5	106637244	missense	possibly damaging	0.95
R2421:Zfp644	UTSW	5	106637244	missense	possibly damaging	0.95
R2422:Zfp644	UTSW	5	106637244	missense	possibly damaging	0.95
R3752:Zfp644	UTSW	5	106636383	missense	probably benign
R4207:Zfp644	UTSW	5	106618276	missense	probably damaging	1.00
R4285:Zfp644	UTSW	5	106635118	missense	probably damaging	1.00
R4874:Zfp644	UTSW	5	106635413	missense	probably damaging	1.00
R4961:Zfp644	UTSW	5	106618215	utr 3 prime	probably benign
R4984:Zfp644	UTSW	5	106636917	missense	possibly damaging	0.96
R5007:Zfp644	UTSW	5	106636001	missense	probably benign
R5358:Zfp644	UTSW	5	106635675	missense	probably damaging	1.00
R5382:Zfp644	UTSW	5	106634869	missense	possibly damaging	0.88
R5416:Zfp644	UTSW	5	106618428	splice site	silent
R5641:Zfp644	UTSW	5	106619595	missense	probably damaging	1.00
R5656:Zfp644	UTSW	5	106637982	missense	probably benign	0.12
R5732:Zfp644	UTSW	5	106637123	missense	probably damaging	1.00
R6039:Zfp644	UTSW	5	106635425	missense	possibly damaging	0.93
R6039:Zfp644	UTSW	5	106635425	missense	possibly damaging	0.93
R6306:Zfp644	UTSW	5	106638124	missense	probably damaging	0.99
R6317:Zfp644	UTSW	5	106635845	missense	probably damaging	1.00
R6354:Zfp644	UTSW	5	106636753	missense	probably benign	0.23
R6886:Zfp644	UTSW	5	106637911	missense	possibly damaging	0.53
R7223:Zfp644	UTSW	5	106637582	nonsense	probably null
R7326:Zfp644	UTSW	5	106638277	missense	probably benign	0.12
R7450:Zfp644	UTSW	5	106638526	missense	probably benign	0.00
R8095:Zfp644	UTSW	5	106618414	missense	possibly damaging	0.93
R8710:Zfp644	UTSW	5	106635131	missense	probably damaging	0.99
R8822:Zfp644	UTSW	5	106635221	missense	possibly damaging	0.93
R8936:Zfp644	UTSW	5	106635637	missense	probably damaging	1.00
R8975:Zfp644	UTSW	5	106637601	missense	probably benign
R9056:Zfp644	UTSW	5	106636078	nonsense	probably null
R9192:Zfp644	UTSW	5	106637963	missense	probably benign
R9250:Zfp644	UTSW	5	106636833	missense	probably damaging	0.99
R9287:Zfp644	UTSW	5	106637908	missense	possibly damaging	0.94
R9313:Zfp644	UTSW	5	106636458	missense	probably benign	0.25
R9600:Zfp644	UTSW	5	106636043	missense	probably benign
R9766:Zfp644	UTSW	5	106636825	missense	probably damaging	1.00
R9789:Zfp644	UTSW	5	106638265	missense	possibly damaging	0.91
X0011:Zfp644	UTSW	5	106618427	missense	probably damaging	1.00
Z1176:Zfp644	UTSW	5	106635744	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AGTCAACACACGCCGAGGAATG -3'
(R):5'- GCTGATGGAAGAGATTCGTGAGCTG -3'

Sequencing Primer
(F):5'- AATGCAAATACTCCGTGTGCTTC -3'
(R):5'- AGAAGTGCTCGACTCCAGTG -3'

Posted On

2013-05-09