Mutagenetix > Incidental Mutation

Incidental Mutation 'R0449:Zbed5'

39513

Institutional Source

Beutler Lab

Gene Symbol

Zbed5

Ensembl Gene

ENSMUSG00000034173

Gene Name

zinc finger BED-type containing 5

Synonyms

2410018M08Rik, Chchd2l, Zbed5

MMRRC Submission

038649-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0449 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

129924564-129932464 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 129930567 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 172 (G172D)

Ref Sequence

ENSEMBL: ENSMUSP00000044533 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000041466] [ENSMUST00000077320] [ENSMUST00000140667]

AlphaFold

B2RPU8

Predicted Effect

probably damaging
Transcript: ENSMUST00000041466
AA Change: G172D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000044533
Gene: ENSMUSG00000034173
AA Change: G172D

Domain	Start	End	E-Value	Type
low complexity region	16	51	N/A	INTRINSIC
low complexity region	60	75	N/A	INTRINSIC
Pfam:DUF4371	281	412	1.6e-10	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000077320
AA Change: G151D

PolyPhen 2 Score 0.934 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116455
Gene: ENSMUSG00000034173
AA Change: G151D

Domain	Start	End	E-Value	Type
low complexity region	2	30	N/A	INTRINSIC
low complexity region	39	54	N/A	INTRINSIC
Pfam:CHCH	95	128	2.1e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140667

SMART Domains

Protein: ENSMUSP00000117510
Gene: ENSMUSG00000025537

Domain	Start	End	E-Value	Type
Pfam:Pkinase_Tyr	20	143	4.1e-9	PFAM
Pfam:Pkinase	20	144	3.2e-23	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000202430

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.0%
20x: 94.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is unusual in that its coding sequence is mostly derived from Charlie-like DNA transposon; however, it does not appear to be an active DNA transposon as it is not flanked by terminal inverted repeats. The encoded protein is conserved among the mammalian Laurasiatheria branch. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jan 2009]

Allele List at MGI

Other mutations in this stock

Total: 75 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb4	A	T	5: 8,989,885 (GRCm39)	R813*	probably null	Het
Accsl	T	A	2: 93,696,419 (GRCm39)	I60F	probably benign	Het
Adam29	C	T	8: 56,325,716 (GRCm39)	G246D	probably benign	Het
Ankrd13c	A	G	3: 157,697,351 (GRCm39)	I319V	probably benign	Het
Bag6	T	G	17: 35,360,442 (GRCm39)	V327G	probably damaging	Het
Barhl1	C	T	2: 28,805,304 (GRCm39)	A130T	probably benign	Het
Bend4	T	C	5: 67,555,583 (GRCm39)	D541G	probably damaging	Het
Birc6	A	C	17: 74,999,290 (GRCm39)	T4673P	probably damaging	Het
Ccdc81	T	C	7: 89,539,679 (GRCm39)	R186G	probably damaging	Het
Cdyl2	A	G	8: 117,309,931 (GRCm39)	F342L	probably damaging	Het
Chd3	C	A	11: 69,248,367 (GRCm39)	V748L	probably damaging	Het
CN725425	G	T	15: 91,123,147 (GRCm39)	R72I	possibly damaging	Het
Col22a1	A	G	15: 71,834,520 (GRCm39)		probably null	Het
Cops3	A	G	11: 59,709,243 (GRCm39)		probably null	Het
Ctnnd1	G	T	2: 84,433,606 (GRCm39)	Q940K	possibly damaging	Het
Dtnb	C	T	12: 3,641,971 (GRCm39)	Q45*	probably null	Het
Efr3a	T	A	15: 65,714,553 (GRCm39)	I280K	probably damaging	Het
Eml6	A	C	11: 29,843,213 (GRCm39)	V167G	probably benign	Het
Fam83c	T	A	2: 155,672,215 (GRCm39)	M407L	probably benign	Het
Fasn	T	C	11: 120,701,894 (GRCm39)	T1862A	probably benign	Het
Fbxl6	A	G	15: 76,420,155 (GRCm39)	I486T	probably damaging	Het
Gpr182	A	G	10: 127,586,565 (GRCm39)	Y129H	probably damaging	Het
Gpr75	A	G	11: 30,842,456 (GRCm39)	S454G	probably damaging	Het
Hectd4	G	A	5: 121,502,653 (GRCm39)		probably null	Het
Hsf4	A	G	8: 106,002,222 (GRCm39)	T411A	probably benign	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il4	A	T	11: 53,509,432 (GRCm39)	M1K	probably null	Het
Ints11	G	T	4: 155,972,405 (GRCm39)	R463L	probably benign	Het
Ints4	G	A	7: 97,178,430 (GRCm39)	E677K	probably damaging	Het
Klk1b11	G	A	7: 43,647,216 (GRCm39)	C50Y	probably damaging	Het
Krt14	C	A	11: 100,098,221 (GRCm39)	G21C	unknown	Het
Krt81	C	A	15: 101,361,508 (GRCm39)	R24L	possibly damaging	Het
L3mbtl2	C	T	15: 81,552,942 (GRCm39)	A125V	probably damaging	Het
Lama3	A	G	18: 12,633,569 (GRCm39)		probably null	Het
Lrrk2	T	C	15: 91,634,478 (GRCm39)	L1414P	probably damaging	Het
Matn2	T	C	15: 34,428,687 (GRCm39)	S684P	probably damaging	Het
Mga	T	A	2: 119,771,862 (GRCm39)	V1574D	probably damaging	Het
Mia2	T	C	12: 59,219,380 (GRCm39)		probably null	Het
Mrpl21	T	A	19: 3,342,459 (GRCm39)		probably benign	Het
Msh5	T	A	17: 35,260,458 (GRCm39)	Q266L	probably benign	Het
Mybpc1	C	A	10: 88,376,822 (GRCm39)	C758F	probably damaging	Het
Myo15a	G	A	11: 60,400,422 (GRCm39)	A2932T	possibly damaging	Het
Nbas	T	A	12: 13,569,109 (GRCm39)	I2021K	probably benign	Het
Neurl4	T	C	11: 69,796,393 (GRCm39)	S424P	probably damaging	Het
Or10j5	T	A	1: 172,784,965 (GRCm39)	V201E	probably damaging	Het
Or2w3	A	C	11: 58,556,789 (GRCm39)	I135L	probably benign	Het
Or6c6	A	G	10: 129,187,103 (GRCm39)	M224V	probably benign	Het
Or7g17	T	C	9: 18,767,945 (GRCm39)	M8T	probably benign	Het
Or7g32	T	A	9: 19,389,388 (GRCm39)	I53F	possibly damaging	Het
Phlpp1	C	T	1: 106,278,308 (GRCm39)	R907W	probably damaging	Het
Pigg	T	C	5: 108,484,277 (GRCm39)	V508A	probably benign	Het
Pkhd1l1	T	G	15: 44,364,915 (GRCm39)	Y685D	probably damaging	Het
Polr3a	A	T	14: 24,534,534 (GRCm39)	I34N	probably damaging	Het
Pramel17	T	C	4: 101,694,158 (GRCm39)	S242G	probably benign	Het
Prex1	A	G	2: 166,411,297 (GRCm39)	V1434A	probably benign	Het
Ptprh	T	A	7: 4,601,005 (GRCm39)	D124V	probably damaging	Het
Rad54b	T	A	4: 11,606,131 (GRCm39)	I513N	probably benign	Het
Rbm12b1	A	G	4: 12,145,507 (GRCm39)	N493S	probably benign	Het
Rfx7	A	T	9: 72,517,586 (GRCm39)		probably null	Het
Serpini1	A	G	3: 75,520,648 (GRCm39)	K82E	probably benign	Het
Slc27a6	T	G	18: 58,742,237 (GRCm39)		probably null	Het
Slc35f2	G	T	9: 53,724,201 (GRCm39)	L358F	probably damaging	Het
Slc45a1	A	C	4: 150,727,762 (GRCm39)	I158M	probably damaging	Het
Slurp2	G	A	15: 74,614,955 (GRCm39)	P62L	probably damaging	Het
Sspo	C	T	6: 48,443,674 (GRCm39)	H1949Y	probably damaging	Het
Tiam1	A	T	16: 89,634,715 (GRCm39)	V865E	possibly damaging	Het
Tlr4	A	C	4: 66,757,857 (GRCm39)	I217L	probably damaging	Het
Top1	C	T	2: 160,554,628 (GRCm39)	R460*	probably null	Het
Trpm3	T	A	19: 22,965,418 (GRCm39)	S1638T	probably benign	Het
Tubgcp5	C	T	7: 55,473,315 (GRCm39)	R798C	probably benign	Het
Vars1	T	G	17: 35,231,703 (GRCm39)		probably null	Het
Xylt2	A	G	11: 94,557,159 (GRCm39)	Y111H	probably benign	Het
Zfp53	C	T	17: 21,729,095 (GRCm39)	T376I	probably benign	Het
Zfp937	G	T	2: 150,081,466 (GRCm39)	V499L	probably benign	Het
Zyx	T	A	6: 42,328,247 (GRCm39)	L152Q	probably damaging	Het

Other mutations in Zbed5

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02225:Zbed5	APN	5	129,930,974 (GRCm39)	splice site	probably null
IGL03334:Zbed5	APN	5	129,931,196 (GRCm39)	missense	possibly damaging	0.66
R0744:Zbed5	UTSW	5	129,931,113 (GRCm39)	missense	possibly damaging	0.92
R0763:Zbed5	UTSW	5	129,931,020 (GRCm39)	missense	probably benign	0.00
R1967:Zbed5	UTSW	5	129,930,510 (GRCm39)	missense	possibly damaging	0.68
R2246:Zbed5	UTSW	5	129,931,592 (GRCm39)	missense	probably benign	0.01
R2925:Zbed5	UTSW	5	129,932,039 (GRCm39)	missense	possibly damaging	0.66
R3053:Zbed5	UTSW	5	129,930,987 (GRCm39)	missense	possibly damaging	0.66
R3701:Zbed5	UTSW	5	129,932,000 (GRCm39)	missense	possibly damaging	0.90
R3702:Zbed5	UTSW	5	129,932,000 (GRCm39)	missense	possibly damaging	0.90
R3916:Zbed5	UTSW	5	129,931,118 (GRCm39)	missense	possibly damaging	0.92
R3917:Zbed5	UTSW	5	129,931,118 (GRCm39)	missense	possibly damaging	0.92
R4547:Zbed5	UTSW	5	129,931,692 (GRCm39)	nonsense	probably null
R4548:Zbed5	UTSW	5	129,931,692 (GRCm39)	nonsense	probably null
R5195:Zbed5	UTSW	5	129,931,019 (GRCm39)	missense	probably benign	0.01
R5500:Zbed5	UTSW	5	129,930,823 (GRCm39)	nonsense	probably null
R5813:Zbed5	UTSW	5	129,931,059 (GRCm39)	missense	possibly damaging	0.46
R6377:Zbed5	UTSW	5	129,932,210 (GRCm39)	missense	possibly damaging	0.83
R6620:Zbed5	UTSW	5	129,932,130 (GRCm39)	missense	possibly damaging	0.82
R6862:Zbed5	UTSW	5	129,932,026 (GRCm39)	missense	probably benign
R6931:Zbed5	UTSW	5	129,932,170 (GRCm39)	nonsense	probably null
R7223:Zbed5	UTSW	5	129,929,279 (GRCm39)	missense	probably damaging	1.00
R7831:Zbed5	UTSW	5	129,930,798 (GRCm39)	missense	possibly damaging	0.82
R7918:Zbed5	UTSW	5	129,930,504 (GRCm39)	missense	possibly damaging	0.46
R7982:Zbed5	UTSW	5	129,929,321 (GRCm39)	missense	possibly damaging	0.79

Predicted Primers

Posted On

2013-05-23