Mutagenetix > Incidental Mutation

Incidental Mutation 'R2256:Zfp644'

243354

Institutional Source

Beutler Lab

Gene Symbol

Zfp644

Ensembl Gene

ENSMUSG00000049606

Gene Name

zinc finger protein 644

Synonyms

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

MMRRC Submission

040256-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.299) question?

Stock #

R2256 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106764605-106844696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 106783711 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 945 (H945Q)

Ref Sequence

ENSEMBL: ENSMUSP00000108316 (fasta)

Gene Model

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

AlphaFold

E9QA22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045466
AA Change: H914Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: H914Q

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 damaging
Transcript: ENSMUST00000112696
AA Change: H945Q

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: H945Q

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

possibly damaging
Transcript: ENSMUST00000112698
AA Change: H914Q

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: H914Q

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

noncoding transcript
Transcript: ENSMUST00000149128

Predicted Effect

probably benign
Transcript: ENSMUST00000127434

SMART Domains

Protein: ENSMUSP00000122421
Gene: ENSMUSG00000049606

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: ENSMUST00000137285

Predicted Effect

probably benign
Transcript: ENSMUST00000135108

Predicted Effect

probably benign
Transcript: ENSMUST00000155495

Meta Mutation Damage Score

0.0802

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

98% (97/99)

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: 98 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	T	C	5: 9,008,431 (GRCm39)	S1200P	probably damaging	Het
Acadsb	A	G	7: 131,045,382 (GRCm39)	Y438C	probably benign	Het
Acp7	A	C	7: 28,313,838 (GRCm39)	W399G	probably damaging	Het
Actr3b	A	G	5: 26,027,403 (GRCm39)	T113A	possibly damaging	Het
Adgrv1	T	C	13: 81,654,259 (GRCm39)	D2204G	probably benign	Het
Ago1	A	G	4: 126,335,704 (GRCm39)	V669A	possibly damaging	Het
Ang5	T	A	14: 44,199,978 (GRCm39)	L14Q	probably null	Het
Aoc1	T	C	6: 48,883,374 (GRCm39)	Y417H	possibly damaging	Het
Arhgap32	T	C	9: 32,158,793 (GRCm39)	I186T	probably damaging	Het
Atf2	A	T	2: 73,675,855 (GRCm39)		probably null	Het
Atg4a	A	G	X: 139,890,984 (GRCm39)	I91V	probably benign	Het
Atp7b	T	G	8: 22,488,282 (GRCm39)	T1102P	probably damaging	Het
Bend5	A	C	4: 111,288,207 (GRCm39)		probably benign	Het
Camkk2	T	C	5: 122,884,398 (GRCm39)	D341G	probably damaging	Het
Cast	T	A	13: 74,888,024 (GRCm39)	I208L	probably damaging	Het
Ccdc141	A	T	2: 76,962,606 (GRCm39)	W113R	probably damaging	Het
Cdk14	T	A	5: 4,938,924 (GRCm39)	M433L	probably benign	Het
Cel	A	G	2: 28,451,204 (GRCm39)	F51S	probably damaging	Het
Cenpc1	A	G	5: 86,164,062 (GRCm39)	L853S	probably damaging	Het
Cep162	C	A	9: 87,088,967 (GRCm39)	D972Y	probably damaging	Het
Cimip3	AC	A	17: 47,744,348 (GRCm39)		probably benign	Het
Clasrp	A	G	7: 19,320,510 (GRCm39)		probably benign	Het
Cntnap5c	T	A	17: 58,637,310 (GRCm39)	N1062K	probably benign	Het
Col3a1	A	G	1: 45,360,792 (GRCm39)	D74G	unknown	Het
Copb1	T	A	7: 113,853,110 (GRCm39)	D29V	possibly damaging	Het
Cox6a1	C	T	5: 115,486,907 (GRCm39)	E35K	possibly damaging	Het
Cyp2b9	G	A	7: 25,873,030 (GRCm39)		probably null	Het
Ddx46	A	G	13: 55,795,521 (GRCm39)	K177E	possibly damaging	Het
Dmbt1	T	C	7: 130,692,224 (GRCm39)	F823L	probably benign	Het
Drc7	A	T	8: 95,801,637 (GRCm39)	H666L	probably benign	Het
Fam228a	T	C	12: 4,787,775 (GRCm39)		probably benign	Het
Fam83e	A	T	7: 45,378,193 (GRCm39)	K406*	probably null	Het
Fam83e	A	T	7: 45,378,194 (GRCm39)	K406M	possibly damaging	Het
Fam90a1a	T	A	8: 22,453,533 (GRCm39)	L296Q	possibly damaging	Het
Fat1	A	G	8: 45,403,408 (GRCm39)	Y53C	probably damaging	Het
Fhdc1	T	C	3: 84,353,353 (GRCm39)	E624G	probably benign	Het
Fryl	T	A	5: 73,230,187 (GRCm39)	N1657Y	possibly damaging	Het
Fsip2	T	A	2: 82,793,095 (GRCm39)	D417E	probably benign	Het
Garin5b	T	A	7: 4,774,020 (GRCm39)	M31L	probably benign	Het
Greb1l	A	G	18: 10,503,307 (GRCm39)	M453V	possibly damaging	Het
Gtf2b	A	G	3: 142,487,185 (GRCm39)	D207G	probably benign	Het
Has3	C	A	8: 107,600,888 (GRCm39)	L117I	probably damaging	Het
Iqca1l	C	T	5: 24,757,038 (GRCm39)		probably benign	Het
Jmjd1c	T	A	10: 67,061,073 (GRCm39)	I1142N	probably damaging	Het
Lipt2	C	T	7: 99,808,601 (GRCm39)	T38I	probably benign	Het
Magea2	A	T	X: 153,810,855 (GRCm39)	L243Q	probably damaging	Het
Mast4	A	T	13: 102,872,259 (GRCm39)	C2178S	possibly damaging	Het
Mctp2	A	G	7: 71,835,568 (GRCm39)	L543P	probably damaging	Het
Mmut	A	T	17: 41,267,210 (GRCm39)	I595F	probably benign	Het
Mphosph9	C	T	5: 124,421,722 (GRCm39)	V740I	probably benign	Het
Mtrex	A	T	13: 113,013,046 (GRCm39)	M890K	probably damaging	Het
Myo1e	G	A	9: 70,285,655 (GRCm39)		probably null	Het
Nlrc4	A	G	17: 74,752,625 (GRCm39)	I586T	probably damaging	Het
Nom1	T	A	5: 29,642,750 (GRCm39)	V417D	probably damaging	Het
Nphs1	A	T	7: 30,167,417 (GRCm39)	I782F	possibly damaging	Het
Numa1	A	G	7: 101,649,998 (GRCm39)	E1243G	probably damaging	Het
Or4a81	T	C	2: 89,618,814 (GRCm39)	H294R	probably benign	Het
Or4k42	T	C	2: 111,320,323 (GRCm39)	Y60C	probably damaging	Het
Or52e7	A	G	7: 104,685,026 (GRCm39)	Y207C	probably benign	Het
Or5g23	T	A	2: 85,438,807 (GRCm39)	Y149F	possibly damaging	Het
Or5p54	A	T	7: 107,554,244 (GRCm39)	Y132F	probably damaging	Het
Orai2	C	T	5: 136,190,454 (GRCm39)	V52I	probably damaging	Het
Osbpl5	A	G	7: 143,262,831 (GRCm39)	C186R	probably damaging	Het
Osbpl6	A	G	2: 76,414,818 (GRCm39)	E403G	probably damaging	Het
Padi4	G	A	4: 140,487,251 (GRCm39)	T217I	possibly damaging	Het
Parm1	C	T	5: 91,741,980 (GRCm39)	T116I	possibly damaging	Het
Pde4dip	T	A	3: 97,625,500 (GRCm39)	Q1366L	probably damaging	Het
Phgdh	T	C	3: 98,235,607 (GRCm39)	K108E	probably benign	Het
Pold1	T	C	7: 44,183,223 (GRCm39)		probably null	Het
Ppp1r37	G	T	7: 19,295,943 (GRCm39)		probably benign	Het
Sdk2	T	C	11: 113,721,620 (GRCm39)	N1332S	probably benign	Het
Sema6d	A	G	2: 124,506,070 (GRCm39)	D626G	probably damaging	Het
Slc18b1	A	G	10: 23,686,820 (GRCm39)	N212S	probably benign	Het
Slc2a9	T	C	5: 38,610,542 (GRCm39)	T86A	probably damaging	Het
Slco1a6	A	T	6: 142,036,742 (GRCm39)	M555K	probably benign	Het
Sntg2	C	T	12: 30,286,687 (GRCm39)	W302*	probably null	Het
Spata22	T	A	11: 73,231,301 (GRCm39)	M185K	possibly damaging	Het
Stk35	T	A	2: 129,652,427 (GRCm39)	Y309*	probably null	Het
Taar8c	A	G	10: 23,976,969 (GRCm39)	V281A	probably benign	Het
Thoc1	C	A	18: 9,993,466 (GRCm39)	D608E	possibly damaging	Het
Tmem121b	A	T	6: 120,469,030 (GRCm39)	Y562*	probably null	Het
Tmem121b	A	G	6: 120,469,032 (GRCm39)	Y562H	probably damaging	Het
Tmtc4	A	T	14: 123,178,820 (GRCm39)	I449N	probably benign	Het
Tmub1	C	A	5: 24,651,922 (GRCm39)	G14V	possibly damaging	Het
Tmub1	G	A	5: 24,652,175 (GRCm39)		probably benign	Het
Tshz2	A	G	2: 169,728,397 (GRCm39)	T529A	probably damaging	Het
Ugdh	A	T	5: 65,574,458 (GRCm39)		probably benign	Het
Usp25	A	G	16: 76,910,682 (GRCm39)	K913E	probably benign	Het
Vgf	A	G	5: 137,060,401 (GRCm39)		probably benign	Het
Vmn2r19	T	A	6: 123,306,845 (GRCm39)	F451Y	probably benign	Het
Vmn2r59	A	T	7: 41,661,669 (GRCm39)	C715*	probably null	Het
Vps9d1	C	A	8: 123,971,860 (GRCm39)	A582S	probably benign	Het
Xbp1	T	G	11: 5,474,841 (GRCm39)	H247Q	probably damaging	Het
Zfp1008	A	T	13: 62,755,210 (GRCm39)	I36N	probably benign	Het
Zfp319	A	T	8: 96,055,129 (GRCm39)	M358K	possibly damaging	Het
Zfp438	A	T	18: 5,213,508 (GRCm39)	N483K	probably damaging	Het
Zfp518b	T	C	5: 38,828,979 (GRCm39)	N1009D	possibly damaging	Het
Zgrf1	T	A	3: 127,355,646 (GRCm39)	S291T	probably benign	Het

Other mutations in Zfp644

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00963:Zfp644	APN	5	106,786,503 (GRCm39)	critical splice acceptor site	probably null
IGL01654:Zfp644	APN	5	106,783,796 (GRCm39)	missense	probably damaging	1.00
IGL01967:Zfp644	APN	5	106,786,109 (GRCm39)	missense	probably damaging	1.00
IGL02132:Zfp644	APN	5	106,783,760 (GRCm39)	missense	probably benign	0.22
IGL02164:Zfp644	APN	5	106,785,965 (GRCm39)	missense	probably benign	0.01
IGL02303:Zfp644	APN	5	106,785,180 (GRCm39)	missense	probably damaging	1.00
IGL03091:Zfp644	APN	5	106,784,724 (GRCm39)	missense	probably damaging	1.00
IGL03102:Zfp644	APN	5	106,785,134 (GRCm39)	missense	probably damaging	0.99
IGL03298:Zfp644	APN	5	106,782,967 (GRCm39)	missense	possibly damaging	0.93
PIT4466001:Zfp644	UTSW	5	106,784,343 (GRCm39)	missense	probably damaging	0.99
R0012:Zfp644	UTSW	5	106,782,909 (GRCm39)	missense	probably benign	0.11
R0012:Zfp644	UTSW	5	106,782,909 (GRCm39)	missense	probably benign	0.11
R0038:Zfp644	UTSW	5	106,782,909 (GRCm39)	missense	probably benign	0.11
R0038:Zfp644	UTSW	5	106,782,909 (GRCm39)	missense	probably benign	0.11
R0058:Zfp644	UTSW	5	106,784,869 (GRCm39)	missense	possibly damaging	0.69
R0058:Zfp644	UTSW	5	106,784,869 (GRCm39)	missense	possibly damaging	0.69
R0178:Zfp644	UTSW	5	106,784,771 (GRCm39)	missense	probably damaging	1.00
R0497:Zfp644	UTSW	5	106,786,199 (GRCm39)	missense	probably damaging	0.99
R1302:Zfp644	UTSW	5	106,782,765 (GRCm39)	missense	probably damaging	1.00
R1337:Zfp644	UTSW	5	106,785,420 (GRCm39)	missense	probably damaging	0.99
R1400:Zfp644	UTSW	5	106,785,336 (GRCm39)	splice site	probably null
R1597:Zfp644	UTSW	5	106,786,199 (GRCm39)	missense	probably damaging	0.99
R1911:Zfp644	UTSW	5	106,783,137 (GRCm39)	missense	possibly damaging	0.95
R2021:Zfp644	UTSW	5	106,783,548 (GRCm39)	missense	possibly damaging	0.84
R2196:Zfp644	UTSW	5	106,786,469 (GRCm39)	start codon destroyed	probably null	0.02
R2311:Zfp644	UTSW	5	106,782,822 (GRCm39)	missense	probably benign	0.21
R2420:Zfp644	UTSW	5	106,785,110 (GRCm39)	missense	possibly damaging	0.95
R2421:Zfp644	UTSW	5	106,785,110 (GRCm39)	missense	possibly damaging	0.95
R2422:Zfp644	UTSW	5	106,785,110 (GRCm39)	missense	possibly damaging	0.95
R3752:Zfp644	UTSW	5	106,784,249 (GRCm39)	missense	probably benign
R4207:Zfp644	UTSW	5	106,766,142 (GRCm39)	missense	probably damaging	1.00
R4285:Zfp644	UTSW	5	106,782,984 (GRCm39)	missense	probably damaging	1.00
R4874:Zfp644	UTSW	5	106,783,279 (GRCm39)	missense	probably damaging	1.00
R4961:Zfp644	UTSW	5	106,766,081 (GRCm39)	utr 3 prime	probably benign
R4984:Zfp644	UTSW	5	106,784,783 (GRCm39)	missense	possibly damaging	0.96
R5007:Zfp644	UTSW	5	106,783,867 (GRCm39)	missense	probably benign
R5358:Zfp644	UTSW	5	106,783,541 (GRCm39)	missense	probably damaging	1.00
R5382:Zfp644	UTSW	5	106,782,735 (GRCm39)	missense	possibly damaging	0.88
R5416:Zfp644	UTSW	5	106,766,294 (GRCm39)	splice site	silent
R5641:Zfp644	UTSW	5	106,767,461 (GRCm39)	missense	probably damaging	1.00
R5656:Zfp644	UTSW	5	106,785,848 (GRCm39)	missense	probably benign	0.12
R5732:Zfp644	UTSW	5	106,784,989 (GRCm39)	missense	probably damaging	1.00
R6039:Zfp644	UTSW	5	106,783,291 (GRCm39)	missense	possibly damaging	0.93
R6039:Zfp644	UTSW	5	106,783,291 (GRCm39)	missense	possibly damaging	0.93
R6306:Zfp644	UTSW	5	106,785,990 (GRCm39)	missense	probably damaging	0.99
R6317:Zfp644	UTSW	5	106,783,711 (GRCm39)	missense	probably damaging	1.00
R6354:Zfp644	UTSW	5	106,784,619 (GRCm39)	missense	probably benign	0.23
R6886:Zfp644	UTSW	5	106,785,777 (GRCm39)	missense	possibly damaging	0.53
R7223:Zfp644	UTSW	5	106,785,448 (GRCm39)	nonsense	probably null
R7326:Zfp644	UTSW	5	106,786,143 (GRCm39)	missense	probably benign	0.12
R7450:Zfp644	UTSW	5	106,786,392 (GRCm39)	missense	probably benign	0.00
R8095:Zfp644	UTSW	5	106,766,280 (GRCm39)	missense	possibly damaging	0.93
R8710:Zfp644	UTSW	5	106,782,997 (GRCm39)	missense	probably damaging	0.99
R8822:Zfp644	UTSW	5	106,783,087 (GRCm39)	missense	possibly damaging	0.93
R8936:Zfp644	UTSW	5	106,783,503 (GRCm39)	missense	probably damaging	1.00
R8975:Zfp644	UTSW	5	106,785,467 (GRCm39)	missense	probably benign
R9056:Zfp644	UTSW	5	106,783,944 (GRCm39)	nonsense	probably null
R9192:Zfp644	UTSW	5	106,785,829 (GRCm39)	missense	probably benign
R9250:Zfp644	UTSW	5	106,784,699 (GRCm39)	missense	probably damaging	0.99
R9287:Zfp644	UTSW	5	106,785,774 (GRCm39)	missense	possibly damaging	0.94
R9313:Zfp644	UTSW	5	106,784,324 (GRCm39)	missense	probably benign	0.25
R9600:Zfp644	UTSW	5	106,783,909 (GRCm39)	missense	probably benign
R9766:Zfp644	UTSW	5	106,784,691 (GRCm39)	missense	probably damaging	1.00
R9789:Zfp644	UTSW	5	106,786,131 (GRCm39)	missense	possibly damaging	0.91
X0011:Zfp644	UTSW	5	106,766,293 (GRCm39)	missense	probably damaging	1.00
Z1176:Zfp644	UTSW	5	106,783,610 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- AACTCGTTTCACAGGCGTCC -3'
(R):5'- GCCCCTGTTTAAAAGCAAGATAG -3'

Sequencing Primer
(F):5'- GAAGTGCTGCATCTTGTCAC -3'
(R):5'- CCCTGTTTAAAAGCAAGATAGAGGGC -3'

Posted On

2014-10-16