Mutagenetix > Incidental Mutations

Incidental Mutation 'R0497:Zfp644'

40522

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

038693-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

R0497 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106616739-106697287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106638333 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 116 (V116D)

Ref Sequence

ENSEMBL: ENSMUSP00000118856 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000045466
AA Change: V116D

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: V116D

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

probably benign
Transcript: ENSMUST00000112696
AA Change: V116D

PolyPhen 2 Score 0.371 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: V116D

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: V116D

PolyPhen 2 Score 0.216 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: V116D

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 damaging
Transcript: ENSMUST00000122980
AA Change: V116D

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

Predicted Effect

probably damaging
Transcript: ENSMUST00000124263
AA Change: V116D

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125895

Predicted Effect

probably benign
Transcript: ENSMUST00000127434
AA Change: V116D

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606
AA Change: V116D

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

possibly damaging
Transcript: ENSMUST00000137285
AA Change: V116D

PolyPhen 2 Score 0.822 (Sensitivity: 0.84; Specificity: 0.93)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149128

Predicted Effect

probably benign
Transcript: ENSMUST00000155495
AA Change: V91D

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

Meta Mutation Damage Score

0.0857

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 96.6%
20x: 93.1%

Validation Efficiency

100% (68/68)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	T	A	7: 28,147,465	C1158S	probably damaging	Het
Aatk	A	C	11: 120,018,780	V110G	probably damaging	Het
Adcy6	A	C	15: 98,597,725		probably null	Het
Adm	A	G	7: 110,629,121	T170A	probably benign	Het
Afap1l2	G	T	19: 56,930,209	N171K	probably benign	Het
Aph1b	G	T	9: 66,790,618	S112*	probably null	Het
Arhgap23	A	G	11: 97,452,163	S424G	probably damaging	Het
Asah2	T	A	19: 32,054,631	N46I	probably benign	Het
Braf	G	A	6: 39,640,549		probably benign	Het
Brd2	C	T	17: 34,114,360	R47Q	probably damaging	Het
C2cd5	A	G	6: 143,012,093	V972A	probably benign	Het
Car9	T	A	4: 43,511,881	L300H	probably damaging	Het
Chmp3	T	C	6: 71,552,411	S20P	probably damaging	Het
Chp1	A	G	2: 119,571,782	N79S	possibly damaging	Het
Cnot2	A	T	10: 116,498,355	I335N	probably damaging	Het
Cntnap4	T	C	8: 112,570,151	V6A	probably benign	Het
Ctcf	T	A	8: 105,675,040		probably benign	Het
Dennd1b	A	G	1: 139,039,986		probably benign	Het
Dirc2	A	T	16: 35,735,604	V162D	probably benign	Het
Dnmbp	A	G	19: 43,856,640		probably benign	Het
Eef2	T	C	10: 81,181,586	F782L	probably benign	Het
Eogt	T	A	6: 97,135,233	Y153F	probably benign	Het
Fam81a	G	T	9: 70,096,119	Q237K	possibly damaging	Het
Fat2	T	A	11: 55,283,402	T2162S	probably benign	Het
Gas6	T	C	8: 13,470,387	I434V	possibly damaging	Het
Gm42417	A	T	1: 36,532,167	L77Q	probably damaging	Het
Grik3	A	T	4: 125,623,510	N49Y	possibly damaging	Het
Gucy2e	A	T	11: 69,224,159	V974E	probably damaging	Het
Helz2	A	G	2: 181,229,656	V2721A	probably damaging	Het
Klhl6	GT	G	16: 19,956,966		probably null	Het
Krt73	A	G	15: 101,802,230	L23P	probably damaging	Het
L3mbtl3	T	C	10: 26,282,874		probably benign	Het
Lrrc15	A	T	16: 30,272,892	V543E	probably damaging	Het
Med13	G	A	11: 86,276,983		probably benign	Het
Med25	T	C	7: 44,892,100	D60G	probably damaging	Het
Mgam	T	A	6: 40,664,892	Y560N	probably damaging	Het
Mlkl	A	G	8: 111,327,873	Y211H	probably damaging	Het
Msl2	A	G	9: 101,101,294	N289S	probably benign	Het
Nwd2	G	T	5: 63,806,343	W1090L	probably damaging	Het
Olfr1281	A	G	2: 111,328,830	D137G	probably benign	Het
Omt2b	T	C	9: 78,328,231		probably benign	Het
Pald1	A	G	10: 61,341,315	L652P	probably damaging	Het
Pard3b	T	A	1: 62,440,008		probably null	Het
Prdm15	G	A	16: 97,794,334	T1098I	possibly damaging	Het
Rock2	A	G	12: 16,954,953	T436A	probably benign	Het
Sema4c	A	T	1: 36,549,608	D812E	probably benign	Het
Sla	A	T	15: 66,792,249	I91K	probably benign	Het
Slc22a16	T	G	10: 40,584,967	M255R	probably damaging	Het
Smg8	C	T	11: 87,086,084	D224N	possibly damaging	Het
Spdef	A	T	17: 27,718,058	D190E	probably benign	Het
Taok1	A	G	11: 77,573,804	I152T	probably damaging	Het
Tmem220	A	G	11: 67,025,922	D36G	probably damaging	Het
Tmem235	A	C	11: 117,864,351	I210L	probably benign	Het
Tmem266	C	T	9: 55,380,884		probably null	Het
Tmprss12	A	G	15: 100,281,039		probably benign	Het
Trim32	G	A	4: 65,613,254	R16Q	probably damaging	Het
Usp38	T	A	8: 80,984,424		probably benign	Het
Usp44	C	T	10: 93,846,806	P373S	possibly damaging	Het
Vmn1r209	G	T	13: 22,805,948	Q191K	probably damaging	Het
Vmn1r70	T	C	7: 10,634,026	I147T	probably benign	Het
Vmn2r107	T	A	17: 20,375,132	I649N	probably damaging	Het
Vmn2r12	A	T	5: 109,091,889	Y269*	probably null	Het
Zan	C	T	5: 137,412,676		probably benign	Het
Zfp616	G	T	11: 74,083,480	V192L	probably benign	Het
Zgrf1	T	C	3: 127,584,650		probably benign	Het
Zhx3	A	T	2: 160,779,994	L751*	probably null	Het
Znfx1	T	A	2: 167,055,411	Q531L	probably benign	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
R0058:Zfp644	UTSW	5	106637003	missense	possibly damaging	0.69
R0178:Zfp644	UTSW	5	106636905	missense	probably damaging	1.00
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
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'- GAAATCACTGCTAACGCGCTGAC -3'
(R):5'- ACACCGACATTACTGGTGCTAAAGAAG -3'

Sequencing Primer
(F):5'- CTGCTTGACTTAGTAAAGTGCTC -3'
(R):5'- TACTGGTGCTAAAGAAGAACTCC -3'

Posted On

2013-05-23