Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00423:Zfp451'

7515

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Zfp451

Ensembl Gene

ENSMUSG00000042197

Gene Name

zinc finger protein 451

Synonyms

4930515K21Rik, Kiaa0576-hp, 4933435G09Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL00423

Quality Score

Status

Chromosome

Chromosomal Location

33800626-33853676 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 33816660 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 213 (V213D)

Ref Sequence

ENSEMBL: ENSMUSP00000110821 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019861] [ENSMUST00000115167] [ENSMUST00000139143] [ENSMUST00000151055] [ENSMUST00000194656]

AlphaFold

Q8C0P7

Predicted Effect

probably benign
Transcript: ENSMUST00000019861
AA Change: V430D

PolyPhen 2 Score 0.310 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000019861
Gene: ENSMUSG00000042197
AA Change: V430D

Domain	Start	End	E-Value	Type
coiled coil region	81	109	N/A	INTRINSIC
ZnF_C2H2	169	195	1.63e1	SMART
ZnF_C2H2	212	232	1.18e2	SMART
ZnF_C2H2	253	277	1.73e0	SMART
ZnF_C2H2	315	335	2.03e2	SMART
ZnF_C2H2	362	385	3.75e1	SMART
ZnF_C2H2	494	517	2.91e-2	SMART
ZnF_C2H2	527	550	5.4e1	SMART
low complexity region	558	577	N/A	INTRINSIC
ZnF_C2H2	604	629	1.55e1	SMART
ZnF_C2H2	634	657	2.29e0	SMART
ZnF_C2H2	665	687	1.64e-1	SMART
ZnF_C2H2	751	774	6.75e0	SMART
ZnF_C2H2	787	810	4.94e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000115167
AA Change: V213D

PolyPhen 2 Score 0.445 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110821
Gene: ENSMUSG00000042197
AA Change: V213D

Domain	Start	End	E-Value	Type
coiled coil region	81	109	N/A	INTRINSIC
ZnF_C2H2	169	195	1.63e1	SMART
ZnF_C2H2	212	232	1.18e2	SMART
ZnF_C2H2	253	277	1.73e0	SMART
ZnF_C2H2	315	335	2.03e2	SMART
ZnF_C2H2	362	385	3.75e1	SMART
ZnF_C2H2	494	517	2.91e-2	SMART
ZnF_C2H2	527	550	5.4e1	SMART
low complexity region	558	577	N/A	INTRINSIC
ZnF_C2H2	604	629	1.55e1	SMART
ZnF_C2H2	634	657	2.29e0	SMART
ZnF_C2H2	665	687	1.64e-1	SMART
ZnF_C2H2	751	774	6.75e0	SMART
ZnF_C2H2	787	810	4.94e0	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130376

SMART Domains

Protein: ENSMUSP00000118047
Gene: ENSMUSG00000042197

Domain	Start	End	E-Value	Type
ZnF_C2H2	30	56	1.63e1	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000139143

Predicted Effect

probably benign
Transcript: ENSMUST00000151055

Predicted Effect

probably benign
Transcript: ENSMUST00000194656

SMART Domains

Protein: ENSMUSP00000141813
Gene: ENSMUSG00000042197

Domain	Start	End	E-Value	Type
ZnF_C2H2	127	153	6.9e-2	SMART
ZnF_C2H2	170	190	5e-1	SMART
ZnF_C2H2	211	235	7.2e-3	SMART

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,747,572 (GRCm39)	E781G	probably benign	Het
Acp7	T	C	7: 28,314,122 (GRCm39)	T358A	possibly damaging	Het
Adamtsl2	C	A	2: 26,975,100 (GRCm39)	T199K	probably damaging	Het
Ap4e1	T	A	2: 126,870,209 (GRCm39)	S179T	probably damaging	Het
BC048671	A	G	6: 90,280,200 (GRCm39)	T39A	probably benign	Het
Cfap20dc	G	A	14: 8,473,370 (GRCm38)	P600S	possibly damaging	Het
Cnr1	G	A	4: 33,944,116 (GRCm39)	S168N	probably damaging	Het
Cp	T	C	3: 20,039,826 (GRCm39)	V881A	possibly damaging	Het
Cyp4x1	T	C	4: 114,979,145 (GRCm39)	T151A	probably benign	Het
Drd2	T	C	9: 49,307,058 (GRCm39)	I48T	probably damaging	Het
Gemin5	A	T	11: 58,054,643 (GRCm39)	I253N	probably damaging	Het
Herc3	T	A	6: 58,845,700 (GRCm39)	I407K	probably damaging	Het
Ighmbp2	G	T	19: 3,318,704 (GRCm39)	H457Q	probably benign	Het
Mboat1	A	G	13: 30,379,776 (GRCm39)		probably benign	Het
Myh2	T	C	11: 67,088,171 (GRCm39)	V1929A	probably benign	Het
Nucb2	T	A	7: 116,121,066 (GRCm39)		probably benign	Het
Pcsk5	T	C	19: 17,619,923 (GRCm39)	N383S	probably benign	Het
Pde1a	A	G	2: 79,696,014 (GRCm39)	L443P	probably damaging	Het
Prph2	A	T	17: 47,230,704 (GRCm39)	N199I	probably damaging	Het
Rab27b	A	G	18: 70,129,138 (GRCm39)		probably null	Het
Ranbp3	G	A	17: 57,016,238 (GRCm39)	D336N	probably damaging	Het
Rangap1	T	C	15: 81,606,194 (GRCm39)	D49G	probably benign	Het
Rasa3	G	A	8: 13,645,410 (GRCm39)		probably benign	Het
Serpina6	T	A	12: 103,618,162 (GRCm39)	N217I	probably damaging	Het
Sorbs2	A	G	8: 46,252,743 (GRCm39)		probably null	Het
Spire1	A	G	18: 67,662,085 (GRCm39)	V116A	probably damaging	Het
Tdrd1	T	C	19: 56,839,896 (GRCm39)	V652A	possibly damaging	Het
Tmprss11g	T	C	5: 86,640,050 (GRCm39)	E193G	probably benign	Het

Other mutations in Zfp451

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00225:Zfp451	APN	1	33,825,621 (GRCm39)	intron	probably benign
IGL00925:Zfp451	APN	1	33,815,342 (GRCm39)	unclassified	probably benign
IGL00971:Zfp451	APN	1	33,822,234 (GRCm39)	missense	probably benign	0.01
IGL01521:Zfp451	APN	1	33,816,412 (GRCm39)	splice site	probably null
IGL01672:Zfp451	APN	1	33,801,247 (GRCm39)	missense	probably benign	0.33
IGL01826:Zfp451	APN	1	33,821,243 (GRCm39)	missense	probably damaging	1.00
IGL02298:Zfp451	APN	1	33,812,002 (GRCm39)	missense	probably damaging	0.98
IGL02343:Zfp451	APN	1	33,815,574 (GRCm39)	missense	probably damaging	1.00
IGL03150:Zfp451	APN	1	33,816,535 (GRCm39)	missense	probably damaging	1.00
IGL03257:Zfp451	APN	1	33,816,129 (GRCm39)	missense	possibly damaging	0.90
R0006:Zfp451	UTSW	1	33,841,861 (GRCm39)	intron	probably benign
R0068:Zfp451	UTSW	1	33,816,706 (GRCm39)	missense	probably damaging	1.00
R0068:Zfp451	UTSW	1	33,816,706 (GRCm39)	missense	probably damaging	1.00
R0358:Zfp451	UTSW	1	33,816,810 (GRCm39)	missense	probably damaging	1.00
R0441:Zfp451	UTSW	1	33,816,126 (GRCm39)	missense	probably damaging	0.96
R0483:Zfp451	UTSW	1	33,809,991 (GRCm39)	splice site	probably benign
R0745:Zfp451	UTSW	1	33,809,929 (GRCm39)	nonsense	probably null
R1469:Zfp451	UTSW	1	33,808,894 (GRCm39)	missense	possibly damaging	0.93
R1469:Zfp451	UTSW	1	33,808,894 (GRCm39)	missense	possibly damaging	0.93
R1486:Zfp451	UTSW	1	33,816,808 (GRCm39)	missense	probably damaging	0.99
R1774:Zfp451	UTSW	1	33,852,849 (GRCm39)	missense	probably benign	0.02
R1929:Zfp451	UTSW	1	33,822,937 (GRCm39)	missense	probably benign	0.12
R1929:Zfp451	UTSW	1	33,821,274 (GRCm39)	missense	probably damaging	1.00
R1933:Zfp451	UTSW	1	33,816,903 (GRCm39)	missense	probably damaging	1.00
R2108:Zfp451	UTSW	1	33,818,248 (GRCm39)	missense	possibly damaging	0.93
R2225:Zfp451	UTSW	1	33,809,988 (GRCm39)	splice site	probably benign
R2372:Zfp451	UTSW	1	33,819,133 (GRCm39)	splice site	probably null
R3923:Zfp451	UTSW	1	33,818,126 (GRCm39)	missense	probably null	1.00
R4295:Zfp451	UTSW	1	33,816,836 (GRCm39)	missense	probably damaging	0.99
R4409:Zfp451	UTSW	1	33,816,494 (GRCm39)	missense	probably damaging	1.00
R4617:Zfp451	UTSW	1	33,841,752 (GRCm39)	intron	probably benign
R4757:Zfp451	UTSW	1	33,804,939 (GRCm39)	missense	probably damaging	0.98
R4777:Zfp451	UTSW	1	33,821,186 (GRCm39)	missense	possibly damaging	0.80
R4906:Zfp451	UTSW	1	33,844,465 (GRCm39)	missense	probably damaging	1.00
R4964:Zfp451	UTSW	1	33,816,942 (GRCm39)	missense	probably damaging	1.00
R5128:Zfp451	UTSW	1	33,842,014 (GRCm39)	intron	probably benign
R5129:Zfp451	UTSW	1	33,842,014 (GRCm39)	intron	probably benign
R5383:Zfp451	UTSW	1	33,852,887 (GRCm39)	missense	probably damaging	1.00
R5446:Zfp451	UTSW	1	33,816,609 (GRCm39)	missense	probably damaging	1.00
R6154:Zfp451	UTSW	1	33,842,627 (GRCm39)	intron	probably benign
R6228:Zfp451	UTSW	1	33,842,219 (GRCm39)	intron	probably benign
R6272:Zfp451	UTSW	1	33,842,325 (GRCm39)	intron	probably benign
R6296:Zfp451	UTSW	1	33,808,898 (GRCm39)	nonsense	probably null
R6321:Zfp451	UTSW	1	33,852,816 (GRCm39)	missense	probably damaging	1.00
R6445:Zfp451	UTSW	1	33,812,092 (GRCm39)	missense	probably damaging	1.00
R6528:Zfp451	UTSW	1	33,816,862 (GRCm39)	missense	probably damaging	1.00
R6562:Zfp451	UTSW	1	33,801,260 (GRCm39)	missense	possibly damaging	0.90
R6739:Zfp451	UTSW	1	33,842,675 (GRCm39)	intron	probably benign
R6911:Zfp451	UTSW	1	33,842,537 (GRCm39)	intron	probably benign
R7042:Zfp451	UTSW	1	33,816,474 (GRCm39)	missense	probably damaging	1.00
R7044:Zfp451	UTSW	1	33,841,248 (GRCm39)	intron	probably benign
R7071:Zfp451	UTSW	1	33,815,825 (GRCm39)	missense	possibly damaging	0.96
R7082:Zfp451	UTSW	1	33,811,972 (GRCm39)	critical splice donor site	probably null
R7123:Zfp451	UTSW	1	33,815,950 (GRCm39)	missense	probably damaging	1.00
R7149:Zfp451	UTSW	1	33,816,405 (GRCm39)	missense	probably damaging	1.00
R7179:Zfp451	UTSW	1	33,841,651 (GRCm39)	missense	unknown
R7185:Zfp451	UTSW	1	33,808,974 (GRCm39)	missense	probably damaging	1.00
R7228:Zfp451	UTSW	1	33,842,475 (GRCm39)	missense	unknown
R7402:Zfp451	UTSW	1	33,852,843 (GRCm39)	missense	probably benign
R7462:Zfp451	UTSW	1	33,816,094 (GRCm39)	missense	probably damaging	1.00
R7488:Zfp451	UTSW	1	33,818,221 (GRCm39)	missense	probably benign	0.22
R7507:Zfp451	UTSW	1	33,808,840 (GRCm39)	missense	probably damaging	1.00
R7774:Zfp451	UTSW	1	33,844,474 (GRCm39)	missense	probably benign	0.20
R7835:Zfp451	UTSW	1	33,812,060 (GRCm39)	missense	probably damaging	1.00
R7979:Zfp451	UTSW	1	33,821,219 (GRCm39)	missense	probably benign	0.01
R8123:Zfp451	UTSW	1	33,801,248 (GRCm39)	missense	possibly damaging	0.92
R8137:Zfp451	UTSW	1	33,821,156 (GRCm39)	missense	possibly damaging	0.57
R8938:Zfp451	UTSW	1	33,842,063 (GRCm39)	intron	probably benign
R8974:Zfp451	UTSW	1	33,816,535 (GRCm39)	missense	probably damaging	1.00
R9036:Zfp451	UTSW	1	33,815,562 (GRCm39)	missense	probably damaging	1.00
RF005:Zfp451	UTSW	1	33,815,873 (GRCm39)	nonsense	probably null

Posted On

2012-04-20