Mutagenetix > Incidental Mutation

Incidental Mutation 'R4211:Zfand2b'

319168

Institutional Source

Beutler Lab

Gene Symbol

Zfand2b

Ensembl Gene

ENSMUSG00000026197

Gene Name

zinc finger, AN1 type domain 2B

Synonyms

1110060O18Rik

Accession Numbers

Essential gene?

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

Stock #

R4211 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

75145290-75148270 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 75146454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Leucine at position 110 (M110L)

Ref Sequence

ENSEMBL: ENSMUSP00000125086 (fasta)

Gene Model

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

AlphaFold

Q91X58

Predicted Effect

probably benign
Transcript: ENSMUST00000027394
AA Change: M110L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000027394
Gene: ENSMUSG00000026197
AA Change: M110L

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: M110L

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000125086
Gene: ENSMUSG00000026197
AA Change: M110L

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: M103L

Predicted Effect

probably benign
Transcript: ENSMUST00000162768
AA Change: M110L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000124552
Gene: ENSMUSG00000026197
AA Change: M110L

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: ENSMUST00000161106

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161657

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185727

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgb	T	C	10: 10,283,209 (GRCm39)	I166V	probably benign	Het
Albfm1	T	G	5: 90,712,096 (GRCm39)	V63G	probably damaging	Het
Anapc5	T	C	5: 122,955,968 (GRCm39)	E154G	probably benign	Het
Anpep	A	T	7: 79,490,744 (GRCm39)	Y257*	probably null	Het
Atp8b1	A	T	18: 64,686,118 (GRCm39)	D688E	probably damaging	Het
Bub1b	C	A	2: 118,461,459 (GRCm39)	H670Q	possibly damaging	Het
Casp3	G	T	8: 47,088,423 (GRCm39)	D107Y	probably damaging	Het
Castor2	T	C	5: 134,154,783 (GRCm39)		probably null	Het
Clcc1	A	T	3: 108,570,907 (GRCm39)	Y105F	possibly damaging	Het
Cr2	A	C	1: 194,838,636 (GRCm39)	L671R	probably damaging	Het
Cttnbp2	A	G	6: 18,427,542 (GRCm39)	V713A	probably damaging	Het
Cyp4a31	T	C	4: 115,422,210 (GRCm39)	F65L	probably benign	Het
Dpysl2	T	C	14: 67,052,926 (GRCm39)	S308G	probably damaging	Het
Dusp22	A	T	13: 30,892,726 (GRCm39)	I168F	probably benign	Het
Ecel1	A	G	1: 87,079,872 (GRCm39)	S414P	probably damaging	Het
Fat2	A	G	11: 55,174,810 (GRCm39)	F1968L	probably damaging	Het
Fsip2	C	T	2: 82,805,493 (GRCm39)	T604I	probably damaging	Het
H2-DMb1	T	A	17: 34,374,547 (GRCm39)	F66I	possibly damaging	Het
Hgf	T	C	5: 16,819,991 (GRCm39)	V574A	probably damaging	Het
Hoxa7	A	T	6: 52,193,605 (GRCm39)	Y137*	probably null	Het
Ikbke	T	A	1: 131,191,085 (GRCm39)	I519F	probably damaging	Het
Inpp5j	T	G	11: 3,451,107 (GRCm39)	H514P	probably damaging	Het
Kmt2d	A	G	15: 98,738,070 (GRCm39)		probably benign	Het
Larp7	T	A	3: 127,340,603 (GRCm39)	R112S	probably benign	Het
Lepr	C	T	4: 101,590,611 (GRCm39)	A63V	probably benign	Het
Lmx1a	G	T	1: 167,660,428 (GRCm39)	V238L	probably damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Mcmbp	T	C	7: 128,317,729 (GRCm39)	E172G	possibly damaging	Het
Mcpt8	G	A	14: 56,321,375 (GRCm39)	H30Y	probably damaging	Het
Nek8	C	A	11: 78,061,309 (GRCm39)	V379L	probably benign	Het
Numa1	T	G	7: 101,658,945 (GRCm39)	L356R	probably damaging	Het
Pard6b	C	T	2: 167,940,943 (GRCm39)	A310V	probably benign	Het
Pcgf5	C	A	19: 36,414,740 (GRCm39)	N26K	possibly damaging	Het
Phtf1	G	A	3: 103,910,919 (GRCm39)		probably null	Het
Plch1	C	A	3: 63,618,640 (GRCm39)	D675Y	probably damaging	Het
Plk2	A	G	13: 110,532,871 (GRCm39)	H144R	probably damaging	Het
Rax	T	A	18: 66,068,152 (GRCm39)	N318Y	unknown	Het
Slc9a5	A	G	8: 106,085,103 (GRCm39)	N535D	possibly damaging	Het
Smarcd2	T	A	11: 106,157,731 (GRCm39)	K138*	probably null	Het
Taar7e	A	T	10: 23,913,932 (GRCm39)	I141F	probably damaging	Het
Taar7f	T	A	10: 23,925,921 (GRCm39)	W172R	probably damaging	Het
Tango6	A	G	8: 107,415,856 (GRCm39)	I226V	probably benign	Het
Tcn2	T	C	11: 3,872,114 (GRCm39)	K338E	possibly damaging	Het
Tdp1	C	A	12: 99,864,588 (GRCm39)	A243E	probably damaging	Het
Tfpt	A	G	7: 3,623,386 (GRCm39)	Y240H	probably damaging	Het
Tmod4	A	G	3: 95,035,140 (GRCm39)	D215G	probably benign	Het
Top3b	A	G	16: 16,700,396 (GRCm39)		probably null	Het
Urgcp	C	A	11: 5,665,878 (GRCm39)	G820V	probably damaging	Het
Zfyve1	A	T	12: 83,621,909 (GRCm39)	V162E	probably damaging	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
R3724:Zfand2b	UTSW	1	75,146,499 (GRCm39)	missense	possibly damaging	0.84
R4210: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'- TGCTGTGGGAGAGCACATTG -3'
(R):5'- CATAAAGACTGCCTTGGTCAAG -3'

Sequencing Primer
(F):5'- TCGTTCTGACCCAGCACAG -3'
(R):5'- CTTGGTCAAGGAAGACATGGCTG -3'

Posted On

2015-06-10