Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4466001:Zfp644'

555774

Institutional Source

Beutler Lab

Gene Symbol

Zfp644

Ensembl Gene

ENSMUSG00000049606

Gene Name

zinc finger protein 644

Synonyms

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

Accession Numbers

Is this an essential gene?

Possibly non essential (E-score: 0.261) question?

Stock #

PIT4466001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

106616739-106697287 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 106636477 bp

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 735 (A735T)

Ref Sequence

ENSEMBL: ENSMUSP00000038047 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000045466
AA Change: A735T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000038047
Gene: ENSMUSG00000049606
AA Change: A735T

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: A735T

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000108316
Gene: ENSMUSG00000049606
AA Change: A735T

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 damaging
Transcript: ENSMUST00000112698
AA Change: A735T

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000108318
Gene: ENSMUSG00000049606
AA Change: A735T

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

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: ENSMUST00000135108

Predicted Effect

probably benign
Transcript: ENSMUST00000137285

Predicted Effect

probably benign
Transcript: ENSMUST00000155495

Coding Region Coverage

1x: 93.5%
3x: 90.9%
10x: 85.1%
20x: 72.5%

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 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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A4gnt	C	A	9: 99,620,560	P258T	probably damaging	Het
Adamts1	C	A	16: 85,796,691	G719*	probably null	Het
Ano5	G	T	7: 51,544,851	D111Y	probably damaging	Het
Arvcf	T	C	16: 18,402,949	V714A	possibly damaging	Het
AU021092	T	A	16: 5,220,389	S85C	probably damaging	Het
C87414	A	C	5: 93,636,288	L439R	probably damaging	Het
Capn5	T	C	7: 98,123,988	D603G	probably benign	Het
Cbr1	T	A	16: 93,609,804	V136E	probably damaging	Het
Ccdc27	T	C	4: 154,041,727	M102V	unknown	Het
Ccr1	T	C	9: 123,963,728	Y255C	probably damaging	Het
Cdr1	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	AAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCAGAAGTCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCCGAAAATCCAAGTCTTCCC	X: 61,184,524		probably benign	Het
Cep112	A	G	11: 108,519,896	T553A	probably benign	Het
Chd7	C	T	4: 8,753,101	L533F	unknown	Het
Cntnap1	T	C	11: 101,177,305	F48L	probably benign	Het
Cyb5r3	T	C	15: 83,161,863	D84G	probably damaging	Het
Ddx47	T	C	6: 135,015,840	I154T	probably benign	Het
Dnah6	A	G	6: 73,208,641	L99P	probably benign	Het
Dzank1	A	G	2: 144,483,373	I558T	probably benign	Het
Fbn1	T	C	2: 125,306,501	D2609G	possibly damaging	Het
Fhl5	C	A	4: 25,211,194	C166F	probably damaging	Het
Fndc1	A	G	17: 7,750,374	L1553P	probably damaging	Het
Frem1	G	A	4: 82,972,137	T1035I	probably benign	Het
Gm3099	A	G	14: 4,000,549	M128V	probably benign	Het
Gpaa1	C	T	15: 76,334,740	T594I	probably benign	Het
Hck	C	T	2: 153,124,271	T55M	probably damaging	Het
Hectd4	T	C	5: 121,333,060		probably null	Het
Ica1l	C	T	1: 60,015,836		probably null	Het
Ilf3	T	C	9: 21,403,366	Y765H	unknown	Het
Mast4	G	A	13: 102,804,718	T277M	probably damaging	Het
Mfsd6	T	C	1: 52,708,897	T270A	probably benign	Het
Mib1	G	A	18: 10,775,541	D498N	probably benign	Het
Naaladl1	A	T	19: 6,114,633	T576S	possibly damaging	Het
Ncoa6	A	T	2: 155,405,657	I1909N	probably benign	Het
Negr1	A	G	3: 156,859,598	D107G	probably benign	Het
Nlrc4	A	G	17: 74,427,119	M933T	probably benign	Het
Nmnat3	T	G	9: 98,410,253	F184V	probably benign	Het
Olfr1271	A	T	2: 90,266,295	V45E	probably damaging	Het
Olfr510	T	C	7: 108,667,536	V40A	possibly damaging	Het
Olfr8	C	A	10: 78,955,842	F212L	probably benign	Het
Olfr809	C	T	10: 129,776,273	R120C	probably benign	Het
Pfkfb4	T	C	9: 108,999,154	Y86H	probably benign	Het
Pgm5	T	G	19: 24,824,329	Q178H	probably damaging	Het
Phrf1	C	T	7: 141,258,812	T640M	unknown	Het
Psg18	T	G	7: 18,349,316	T305P	probably benign	Het
Skil	T	A	3: 31,098,232	V301D	probably damaging	Het
Slc36a1	C	A	11: 55,219,069	P68T	probably damaging	Het
Smim6	T	C	11: 115,913,545	F53L	probably benign	Het
St5	G	A	7: 109,531,130	A888V	probably damaging	Het
Tpgs2	G	A	18: 25,168,595	T5M	possibly damaging	Het
Trrap	T	A	5: 144,828,600	V2523D	probably benign	Het
Usp9y	A	T	Y: 1,432,197	D429E	probably damaging	Het
Vmn1r125	A	G	7: 21,272,893	T239A	probably benign	Het
Vmn1r168	T	C	7: 23,540,996	F93L	probably damaging	Het
Vmn1r88	A	G	7: 13,178,476	N253S	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
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
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
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'- CAGAGCTTTCCTTCTTTGAGGC -3'
(R):5'- TCAAAATTTCATAAGCGGCCAC -3'

Sequencing Primer
(F):5'- GAGGCCTTAGCTACTCTTTTCACAG -3'
(R):5'- TTTCATAAGCGGCCACATAGAATAC -3'

Posted On

2019-06-07