Mutagenetix > Incidental Mutation

Incidental Mutation 'R3724:Zfand2b'

270655

Institutional Source

Beutler Lab

Gene Symbol

Zfand2b

Ensembl Gene

ENSMUSG00000026197

Gene Name

zinc finger, AN1 type domain 2B

Synonyms

1110060O18Rik

MMRRC Submission

040715-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.158) question?

Stock #

R3724 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

75145290-75148270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 75146499 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 125 (K125E)

Ref Sequence

ENSEMBL: ENSMUSP00000124552 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027394] [ENSMUST00000027396] [ENSMUST00000160439] [ENSMUST00000162768] [ENSMUST00000161215]

AlphaFold

Q91X58

Predicted Effect

probably benign
Transcript: ENSMUST00000027394
AA Change: K125E

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197
AA Change: K125E

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART
UIM	221	240	1.26e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000027396

SMART Domains

Protein: ENSMUSP00000027396
Gene: ENSMUSG00000026198

Domain	Start	End	E-Value	Type
Pfam:MTABC_N	6	255	7.8e-80	PFAM
Pfam:ABC_membrane	265	544	3.7e-34	PFAM
AAA	615	816	1.29e-19	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159219

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160033

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160081

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160282

Predicted Effect

probably benign
Transcript: ENSMUST00000160439
AA Change: K125E

PolyPhen 2 Score 0.290 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197
AA Change: K125E

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART
UIM	221	240	1.26e0	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000186227
AA Change: K118E

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161657

Predicted Effect

possibly damaging
Transcript: ENSMUST00000162768
AA Change: K125E

PolyPhen 2 Score 0.837 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197
AA Change: K125E

Domain	Start	End	E-Value	Type
ZnF_AN1	10	49	2e-4	SMART
low complexity region	54	66	N/A	INTRINSIC
ZnF_AN1	100	139	6.69e-3	SMART
low complexity region	155	179	N/A	INTRINSIC
UIM	197	216	1.3e-2	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185727

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160903

Predicted Effect

probably benign
Transcript: ENSMUST00000161215

SMART Domains

Protein: ENSMUSP00000124630
Gene: ENSMUSG00000026198

Domain	Start	End	E-Value	Type
SCOP:d1jj7a_	5	78	8e-23	SMART
Blast:AAA	23	71	9e-25	BLAST
PDB:3NHB\|A	23	94	3e-36	PDB

Meta Mutation Damage Score

0.2611

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.1%

Validation Efficiency

98% (49/50)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein containing AN1-type zinc-fingers and ubiquitin-interacting motifs. The encoded protein likely associates with the proteosome to stimulate the degradation of toxic or misfolded proteins. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Aug 2012]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6430548M08Rik	G	T	8: 120,876,099 (GRCm39)	R133L	probably damaging	Het
Abhd8	G	A	8: 71,914,136 (GRCm39)	A164V	probably benign	Het
Api5	C	T	2: 94,255,958 (GRCm39)	R243Q	possibly damaging	Het
Atl1	A	G	12: 70,006,154 (GRCm39)	T487A	probably damaging	Het
C2cd6	C	T	1: 59,105,394 (GRCm39)		probably benign	Het
Ccdc88c	G	A	12: 100,896,783 (GRCm39)	A1389V	possibly damaging	Het
Ccna1	T	C	3: 54,958,353 (GRCm39)	E110G	probably damaging	Het
Ccne2	T	C	4: 11,203,039 (GRCm39)	C386R	probably benign	Het
Cfap53	A	G	18: 74,492,640 (GRCm39)	I455V	probably benign	Het
Ctdp1	C	T	18: 80,502,482 (GRCm39)	V143I	probably benign	Het
Cyp11a1	A	T	9: 57,926,605 (GRCm39)	M47L	probably benign	Het
Dnah5	T	C	15: 28,270,566 (GRCm39)	L956P	probably benign	Het
Enkd1	A	T	8: 106,430,557 (GRCm39)	V326E	possibly damaging	Het
Epha4	A	G	1: 77,403,180 (GRCm39)		probably benign	Het
Etv5	T	C	16: 22,254,662 (GRCm39)	D66G	probably damaging	Het
Evi5l	A	G	8: 4,228,080 (GRCm39)		probably benign	Het
Foxf2	A	G	13: 31,814,513 (GRCm39)	K409R	probably damaging	Het
Frem3	A	G	8: 81,341,900 (GRCm39)	T1398A	probably benign	Het
Galm	A	G	17: 80,490,709 (GRCm39)	T289A	probably benign	Het
Gtdc1	T	C	2: 44,646,319 (GRCm39)	E44G	probably damaging	Het
Hmcn1	T	A	1: 150,565,269 (GRCm39)	Y2286F	possibly damaging	Het
Iars1	A	G	13: 49,840,860 (GRCm39)		probably null	Het
Ifna5	A	G	4: 88,754,171 (GRCm39)	E137G	probably damaging	Het
Itih4	G	A	14: 30,614,541 (GRCm39)	E468K	possibly damaging	Het
Kat6a	A	T	8: 23,352,804 (GRCm39)	H196L	probably damaging	Het
Kctd16	A	G	18: 40,391,912 (GRCm39)	T167A	possibly damaging	Het
Klhl29	C	T	12: 5,140,603 (GRCm39)	V680I	probably damaging	Het
Marchf7	T	C	2: 60,060,089 (GRCm39)	I72T	probably benign	Het
Mbd6	C	T	10: 127,119,760 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,526,058 (GRCm39)		probably null	Het
Mindy3	T	A	2: 12,360,165 (GRCm39)	M6L	probably damaging	Het
Mrpl9	T	A	3: 94,355,073 (GRCm39)		probably null	Het
Nlrp4e	A	T	7: 23,020,802 (GRCm39)	T430S	probably benign	Het
Or4ac1-ps1	T	G	2: 88,370,630 (GRCm39)		noncoding transcript	Het
Pcdh15	A	T	10: 74,481,680 (GRCm39)	T342S	probably benign	Het
Prkce	A	T	17: 86,476,051 (GRCm39)	K11*	probably null	Het
Pros1	T	C	16: 62,720,692 (GRCm39)	I117T	possibly damaging	Het
Prpf38b	T	C	3: 108,811,656 (GRCm39)		probably benign	Het
Sh3rf1	T	C	8: 61,825,756 (GRCm39)	S584P	probably benign	Het
Slit2	T	C	5: 48,414,225 (GRCm39)		probably null	Het
Srsf4	C	T	4: 131,627,413 (GRCm39)		probably benign	Het
Stambp	C	T	6: 83,534,448 (GRCm39)	E280K	probably damaging	Het
Tenm3	A	G	8: 48,730,781 (GRCm39)	I1329T	probably damaging	Het
Tex2	G	A	11: 106,420,156 (GRCm39)	T869I	unknown	Het
Tlk2	A	G	11: 105,138,390 (GRCm39)	T281A	probably benign	Het
Tpm1	G	A	9: 66,939,227 (GRCm39)		probably benign	Het
Trim3	A	G	7: 105,260,396 (GRCm39)	F702L	probably damaging	Het
Uba6	T	C	5: 86,282,906 (GRCm39)	D559G	probably damaging	Het
Vmn2r20	T	A	6: 123,362,706 (GRCm39)	T693S	probably benign	Het
Zfp422	C	T	6: 116,603,340 (GRCm39)	A220T	probably benign	Het
Zfp747	A	T	7: 126,973,762 (GRCm39)	V136D	probably benign	Het

Other mutations in Zfand2b

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4468001:Zfand2b	UTSW	1	75,146,476 (GRCm39)	missense	probably benign
R4210:Zfand2b	UTSW	1	75,146,454 (GRCm39)	missense	probably benign	0.01
R4211:Zfand2b	UTSW	1	75,146,454 (GRCm39)	missense	probably benign	0.01
R4434:Zfand2b	UTSW	1	75,147,330 (GRCm39)	missense	possibly damaging	0.93
R5074:Zfand2b	UTSW	1	75,147,634 (GRCm39)	missense	probably benign	0.00
R5765:Zfand2b	UTSW	1	75,147,171 (GRCm39)	splice site	probably null
R5878:Zfand2b	UTSW	1	75,147,154 (GRCm39)	intron	probably benign
R7736:Zfand2b	UTSW	1	75,146,176 (GRCm39)	missense	probably null	0.83
R7826:Zfand2b	UTSW	1	75,145,502 (GRCm39)	missense	possibly damaging	0.95
R8116:Zfand2b	UTSW	1	75,145,504 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- TGTGGGAGAGCACATTGAC -3'
(R):5'- TCAGTCCACAGCACTGCAAG -3'

Sequencing Primer
(F):5'- GTAGTATACGGACATCTGCAAAC -3'
(R):5'- CAGCACTGCAAGCAAAATGG -3'

Posted On

2015-03-18