Mutagenetix > Incidental Mutation

Incidental Mutation 'R1911:Zfp644'

210255

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

039929-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.263) question?

Stock #

R1911 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

106764605-106844696 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 106783137 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 1079 (M1079T)

Ref Sequence

ENSEMBL: ENSMUSP00000108316 (fasta)

Gene Model

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

AlphaFold

E9QA22

Predicted Effect

possibly damaging
Transcript: ENSMUST00000045466
AA Change: M1048T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: M1048T

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: M1079T

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: M1079T

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: M1048T

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: M1048T

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: ENSMUST00000155495

Predicted Effect

probably benign
Transcript: ENSMUST00000135108

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

Meta Mutation Damage Score

0.1066

Coding Region Coverage

1x: 97.3%
3x: 96.8%
10x: 95.4%
20x: 93.2%

Validation Efficiency

99% (99/100)

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: 96 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	T	A	6: 91,927,050 (GRCm39)		probably benign	Het
Abca7	T	C	10: 79,842,468 (GRCm39)	V1134A	probably benign	Het
Acaa2	A	G	18: 74,925,483 (GRCm39)	E82G	probably benign	Het
Acap1	T	C	11: 69,772,548 (GRCm39)	D521G	probably damaging	Het
Adam19	T	C	11: 46,012,281 (GRCm39)	V259A	probably damaging	Het
Adss1	T	C	12: 112,599,443 (GRCm39)	V140A	probably benign	Het
Aif1	G	A	17: 35,391,127 (GRCm39)	P44L	probably benign	Het
Aldh3b1	T	G	19: 3,971,187 (GRCm39)	D159A	probably damaging	Het
Ank1	T	C	8: 23,589,666 (GRCm39)	V589A	probably damaging	Het
Ano2	G	A	6: 125,990,654 (GRCm39)	D803N	probably benign	Het
Arid1b	A	G	17: 5,393,241 (GRCm39)	E2257G	probably damaging	Het
Asb17	T	C	3: 153,550,138 (GRCm39)	Y57H	probably benign	Het
Asph	T	C	4: 9,453,335 (GRCm39)	E646G	probably damaging	Het
Aspm	T	A	1: 139,405,832 (GRCm39)	I1573K	probably benign	Het
Bcas1	C	A	2: 170,229,863 (GRCm39)	D236Y	probably damaging	Het
Bcas2	G	T	3: 103,079,113 (GRCm39)	G9*	probably null	Het
Btaf1	A	G	19: 36,964,030 (GRCm39)	Q867R	probably benign	Het
Calhm3	C	T	19: 47,143,908 (GRCm39)	V132I	possibly damaging	Het
Ccer1	A	T	10: 97,530,539 (GRCm39)	I401F	possibly damaging	Het
Cdcp3	T	C	7: 130,839,818 (GRCm39)	V580A	probably damaging	Het
Cecr2	T	A	6: 120,739,526 (GRCm39)		probably benign	Het
Cep104	G	A	4: 154,091,255 (GRCm39)	R925Q	possibly damaging	Het
Cep164	T	A	9: 45,682,104 (GRCm39)	M1900L	probably benign	Het
Crybg1	A	G	10: 43,873,673 (GRCm39)	V1145A	possibly damaging	Het
Cyp2a4	T	A	7: 26,008,399 (GRCm39)	N180K	possibly damaging	Het
Dennd4a	T	C	9: 64,796,368 (GRCm39)	L798P	probably damaging	Het
Dmxl1	T	C	18: 50,011,230 (GRCm39)	I1129T	probably benign	Het
Dnah2	T	C	11: 69,406,578 (GRCm39)	N555D	possibly damaging	Het
Dock1	T	A	7: 134,601,029 (GRCm39)	M988K	probably damaging	Het
Elp4	T	A	2: 105,533,088 (GRCm39)	H419L	probably damaging	Het
Endov	T	C	11: 119,393,177 (GRCm39)	V109A	possibly damaging	Het
Epha8	T	C	4: 136,663,625 (GRCm39)	Y477C	probably damaging	Het
Erlin1	A	G	19: 44,037,561 (GRCm39)	M188T	probably damaging	Het
Fhip1a	T	A	3: 85,568,525 (GRCm39)	D998V	probably benign	Het
Fhod3	A	T	18: 25,245,643 (GRCm39)	D1231V	possibly damaging	Het
Gimap3	T	A	6: 48,742,646 (GRCm39)	I95F	possibly damaging	Het
Gm10717	T	G	9: 3,026,317 (GRCm39)	F205C	probably damaging	Het
Grk1	C	A	8: 13,457,923 (GRCm39)	D274E	probably damaging	Het
Gsdmc2	G	A	15: 63,699,621 (GRCm39)	A269V	probably benign	Het
Krt33a	T	A	11: 99,903,175 (GRCm39)	Q289L	probably benign	Het
Krt76	T	A	15: 101,796,600 (GRCm39)	K403*	probably null	Het
Lcn4	T	C	2: 26,560,607 (GRCm39)		probably benign	Het
Mab21l1	T	C	3: 55,691,048 (GRCm39)	S212P	possibly damaging	Het
Mapk8ip3	A	C	17: 25,123,025 (GRCm39)	D610E	probably benign	Het
Mastl	G	T	2: 23,022,692 (GRCm39)	S677*	probably null	Het
Mfap3	T	C	11: 57,420,562 (GRCm39)	F181S	probably damaging	Het
Mlkl	T	C	8: 112,038,732 (GRCm39)		probably benign	Het
Mov10	G	A	3: 104,708,876 (GRCm39)		probably benign	Het
Muc5ac	T	C	7: 141,350,041 (GRCm39)	F595L	probably benign	Het
Nbas	T	A	12: 13,616,145 (GRCm39)	C2228S	probably benign	Het
Nit2	G	A	16: 56,982,046 (GRCm39)		probably benign	Het
Nod1	C	T	6: 54,921,425 (GRCm39)	V298M	probably damaging	Het
Or3a4	C	A	11: 73,945,210 (GRCm39)	R125L	probably damaging	Het
Or4c111	A	G	2: 88,843,565 (GRCm39)	L281P	probably damaging	Het
Or52b1	T	A	7: 104,978,590 (GRCm39)	I270F	probably benign	Het
Or6c210	A	T	10: 129,495,981 (GRCm39)	D102V	probably benign	Het
Or7g12	T	C	9: 18,900,196 (GRCm39)	L304P	probably damaging	Het
Osbpl5	C	A	7: 143,243,662 (GRCm39)	R864L	probably benign	Het
Pcnt	G	A	10: 76,204,650 (GRCm39)	T2585M	possibly damaging	Het
Pepd	C	T	7: 34,634,174 (GRCm39)		probably benign	Het
Pou6f2	T	C	13: 18,326,548 (GRCm39)	I341V	probably damaging	Het
Pramel32	T	C	4: 88,548,309 (GRCm39)	Q32R	possibly damaging	Het
Prune2	T	A	19: 17,091,038 (GRCm39)	F281I	probably benign	Het
Psg19	T	G	7: 18,528,193 (GRCm39)	Q183H	probably damaging	Het
Psme4	T	G	11: 30,765,658 (GRCm39)	S587A	probably benign	Het
Ptpro	T	C	6: 137,377,617 (GRCm39)		probably benign	Het
Pttg1ip2	C	A	5: 5,502,019 (GRCm39)	W144C	probably benign	Het
Rasgrp4	T	C	7: 28,838,302 (GRCm39)	V92A	probably damaging	Het
Rem1	G	A	2: 152,476,455 (GRCm39)	V238M	probably damaging	Het
Rexo5	C	T	7: 119,398,867 (GRCm39)	A68V	probably damaging	Het
Robo2	A	T	16: 73,755,213 (GRCm39)	N769K	probably damaging	Het
Sfrp5	C	T	19: 42,187,237 (GRCm39)	V278I	probably benign	Het
Sidt1	A	G	16: 44,102,234 (GRCm39)	S309P	possibly damaging	Het
Slc22a6	A	C	19: 8,599,246 (GRCm39)	Q292H	probably benign	Het
Slc4a3	G	A	1: 75,530,367 (GRCm39)	R690H	probably damaging	Het
Snx7	A	T	3: 117,623,317 (GRCm39)		probably null	Het
Spag6	T	A	2: 18,720,616 (GRCm39)	Y129*	probably null	Het
Srcap	T	C	7: 127,133,994 (GRCm39)	I905T	probably damaging	Het
St6gal1	T	G	16: 23,140,383 (GRCm39)	S185A	probably damaging	Het
Sult6b1	G	A	17: 79,196,393 (GRCm39)	H250Y	possibly damaging	Het
Tdrd6	T	G	17: 43,937,979 (GRCm39)	N1023T	probably benign	Het
Tecta	C	T	9: 42,249,232 (GRCm39)	E1877K	probably damaging	Het
Tex10	C	T	4: 48,456,800 (GRCm39)	R637Q	probably benign	Het
Tex14	T	A	11: 87,385,861 (GRCm39)	D240E	probably damaging	Het
Tex47	T	C	5: 7,355,022 (GRCm39)	Y68H	probably damaging	Het
Thbs2	A	G	17: 14,910,104 (GRCm39)	V165A	probably benign	Het
Tmem126b	T	A	7: 90,118,367 (GRCm39)	Y171F	possibly damaging	Het
Tpsg1	G	T	17: 25,592,374 (GRCm39)	M46I	probably benign	Het
Trmt2a	A	G	16: 18,069,070 (GRCm39)	K304R	probably benign	Het
Ttc28	G	T	5: 111,428,616 (GRCm39)	R1845L	possibly damaging	Het
Umodl1	A	T	17: 31,211,128 (GRCm39)	T884S	possibly damaging	Het
Vmn2r77	A	G	7: 86,461,001 (GRCm39)	K776E	probably damaging	Het
Vmn2r88	T	C	14: 51,655,671 (GRCm39)	S627P	probably damaging	Het
Vrk1	T	C	12: 106,024,236 (GRCm39)		probably null	Het
Znrf1	T	C	8: 112,348,233 (GRCm39)	*41Q	probably null	Het
Znrf1	T	C	8: 112,348,244 (GRCm39)	F183L	possibly damaging	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
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
R2256:Zfp644	UTSW	5	106,783,711 (GRCm39)	missense	probably damaging	1.00
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'- ATGCAGACACTGAGAGAGCC -3'
(R):5'- TCAGAGGAGGTGAAAACTGTGTTTG -3'

Sequencing Primer
(F):5'- ACACTGAGAGAGCCTCTGTCTTTAG -3'
(R):5'- GTTTGGTCCTTTTTAGAATCACACAG -3'

Posted On

2014-06-30