Mutagenetix > Incidental Mutations

Incidental Mutation 'R1823:Dip2a'

206583

Institutional Source

Beutler Lab

Gene Symbol

Dip2a

Ensembl Gene

ENSMUSG00000020231

Gene Name

disco interacting protein 2 homolog A

Synonyms

Kiaa0184-hp, 4931420H10Rik, Dip2

MMRRC Submission

039851-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1823 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

76259429-76345291 bp(-) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

A to T at 76278502 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Stop codon at position 999 (L999*)

Ref Sequence

ENSEMBL: ENSMUSP00000125184 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036033] [ENSMUST00000105417] [ENSMUST00000160048] [ENSMUST00000160442]

Predicted Effect

probably null
Transcript: ENSMUST00000036033
AA Change: L1038*

SMART Domains

Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: L1038*

Domain	Start	End	E-Value	Type
DMAP_binding	9	122	2.55e-35	SMART
low complexity region	173	208	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
Pfam:AMP-binding	330	806	4.3e-26	PFAM
Pfam:AMP-binding	982	1456	1.4e-52	PFAM
low complexity region	1487	1498	N/A	INTRINSIC
low complexity region	1511	1532	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000105417
AA Change: L1048*

SMART Domains

Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: L1048*

Domain	Start	End	E-Value	Type
DMAP_binding	9	122	2.55e-35	SMART
low complexity region	173	208	N/A	INTRINSIC
low complexity region	281	293	N/A	INTRINSIC
Pfam:AMP-binding	330	806	6.6e-28	PFAM
Pfam:AMP-binding	992	1466	7.3e-65	PFAM
low complexity region	1497	1508	N/A	INTRINSIC
low complexity region	1521	1542	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159807

Predicted Effect

probably null
Transcript: ENSMUST00000160048
AA Change: L999*

SMART Domains

Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: L999*

Domain	Start	End	E-Value	Type
DMAP_binding	9	83	7.94e-23	SMART
low complexity region	134	169	N/A	INTRINSIC
low complexity region	242	254	N/A	INTRINSIC
Pfam:AMP-binding	291	767	5.3e-26	PFAM
Pfam:AMP-binding	943	1417	1.7e-52	PFAM
low complexity region	1448	1459	N/A	INTRINSIC
low complexity region	1472	1493	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000160442

SMART Domains

Protein: ENSMUSP00000125744
Gene: ENSMUSG00000020231

Domain	Start	End	E-Value	Type
low complexity region	37	48	N/A	INTRINSIC

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.6%

Validation Efficiency

98% (87/89)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene may be involved in axon patterning in the central nervous system. This gene is not highly expressed. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]

Allele List at MGI

Other mutations in this stock

Total: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810041L15Rik	T	C	15: 84,406,468	T213A	probably benign	Het
Adcy1	G	A	11: 7,161,312	V868I	probably benign	Het
Ahnak	G	T	19: 9,004,905	M1184I	probably damaging	Het
Akap11	T	C	14: 78,511,488	E1153G	probably damaging	Het
Amy1	T	C	3: 113,562,727	N260S	probably null	Het
Ankrd6	A	G	4: 32,824,427	L129P	probably damaging	Het
Aox2	A	T	1: 58,312,359	T702S	probably benign	Het
Apobec1	G	T	6: 122,578,886	T204K	possibly damaging	Het
Arhgef19	A	G	4: 141,249,146	R433G	probably benign	Het
Atf6b	T	A	17: 34,648,644	H110Q	possibly damaging	Het
Btnl4	C	T	17: 34,475,852		probably null	Het
Camsap2	T	C	1: 136,273,783	T662A	possibly damaging	Het
Cbs	G	A	17: 31,624,271	H229Y	probably damaging	Het
Cct8	G	A	16: 87,490,554	R111*	probably null	Het
Cdc42bpb	C	T	12: 111,327,559	A250T	probably damaging	Het
Chrd	A	G	16: 20,741,347		probably benign	Het
Ckap2l	A	G	2: 129,275,579	F559L	probably damaging	Het
D630003M21Rik	T	C	2: 158,217,557	Y141C	probably damaging	Het
Dbf4	T	C	5: 8,397,539	N557S	probably benign	Het
Dct	T	G	14: 118,036,523	N324T	probably benign	Het
Dock10	T	A	1: 80,543,097		probably null	Het
Dync2li1	A	T	17: 84,649,797	D330V	probably damaging	Het
Eif4g3	T	A	4: 138,180,491	D1267E	probably benign	Het
Enc1	A	G	13: 97,245,978	E332G	possibly damaging	Het
Fat2	C	T	11: 55,256,780	V3879I	probably benign	Het
Fh1	A	T	1: 175,616,548	I117K	probably damaging	Het
Fkbp15	A	G	4: 62,337,091	L227P	probably damaging	Het
Fpr1	T	A	17: 17,877,053	M225L	probably benign	Het
Fras1	A	T	5: 96,770,688	I3528F	probably damaging	Het
Grm7	A	G	6: 111,207,769	T354A	probably benign	Het
Ift27	T	A	15: 78,173,778	I9F	possibly damaging	Het
Igf1r	A	G	7: 68,194,981	D834G	possibly damaging	Het
Igsf9b	T	A	9: 27,331,732	L738Q	probably damaging	Het
Itgam	A	T	7: 128,064,732	T44S	probably benign	Het
Ivd	T	A	2: 118,862,034	I5N	probably benign	Het
Jcad	T	C	18: 4,675,780	S1181P	probably damaging	Het
Kctd18	A	G	1: 57,956,365	V251A	probably benign	Het
Mycbp2	A	G	14: 103,252,509	V953A	possibly damaging	Het
Myo18a	T	C	11: 77,825,097		probably benign	Het
Myo3a	A	T	2: 22,340,280	Y509F	probably damaging	Het
Myocd	C	A	11: 65,178,670	M909I	probably benign	Het
Ndufv3	G	A	17: 31,531,245	R467Q	probably damaging	Het
Nkpd1	G	A	7: 19,523,252	V319M	probably damaging	Het
Olfr1216	A	G	2: 89,013,378	S229P	probably benign	Het
Olfr1342	T	A	4: 118,690,192	N87Y	probably damaging	Het
Olfr1453	C	A	19: 13,027,817	V171L	probably benign	Het
Olfr31	T	A	14: 14,328,774	L221Q	probably damaging	Het
Olfr366	T	C	2: 37,220,332	V281A	probably damaging	Het
Olfr406	C	T	11: 74,270,217	A276V	probably damaging	Het
Olfr450	G	T	6: 42,818,268	A266S	possibly damaging	Het
Parp4	T	C	14: 56,589,872		probably benign	Het
Pcdhb9	A	G	18: 37,402,818	T622A	probably benign	Het
Pdpk1	A	T	17: 24,098,176		probably benign	Het
Pkhd1	C	A	1: 20,347,457	G2490V	probably damaging	Het
Plekhg1	G	T	10: 3,903,658		probably null	Het
Plekhh2	A	G	17: 84,575,189	Y708C	probably damaging	Het
Pnp	T	C	14: 50,950,329	F107L	probably damaging	Het
Postn	T	A	3: 54,385,287		probably null	Het
Prcp	A	T	7: 92,928,675	D349V	probably damaging	Het
Prl3a1	A	T	13: 27,270,194	I52F	probably damaging	Het
Pym1	G	A	10: 128,766,044		probably benign	Het
Rad9a	A	T	19: 4,197,242	I248N	probably damaging	Het
Ror2	T	G	13: 53,110,305	E917A	probably benign	Het
Rsf1	G	A	7: 97,579,910		probably benign	Het
Sema6d	A	G	2: 124,659,556		probably null	Het
Slc4a2	C	T	5: 24,427,620	A12V	probably damaging	Het
Slco6b1	T	G	1: 96,961,176		noncoding transcript	Het
Slf2	A	T	19: 44,935,248	H167L	possibly damaging	Het
Snx9	G	T	17: 5,920,671	G429V	probably damaging	Het
Sod3	G	T	5: 52,368,162	V68L	probably benign	Het
Spta1	T	A	1: 174,246,549	D2351E	probably benign	Het
Srpk3	G	A	X: 73,777,955	R425Q	possibly damaging	Het
Tatdn1	C	T	15: 58,916,156	G171E	probably damaging	Het
Tbc1d22a	T	C	15: 86,235,569	V22A	possibly damaging	Het
Tmem27	A	G	X: 164,118,234	D184G	possibly damaging	Het
Tnfsf9	A	G	17: 57,105,738	T103A	probably benign	Het
Tpm3-rs7	T	C	14: 113,315,163	L163P	possibly damaging	Het
Trim52	T	A	14: 106,106,967	C20S	probably damaging	Het
Ucp1	C	T	8: 83,294,032	T157I	probably damaging	Het
Uspl1	T	A	5: 149,214,414	L794Q	probably benign	Het
Vmn1r5	T	A	6: 56,985,595	V85E	probably damaging	Het
Vmn1r58	A	G	7: 5,410,406	I275T	possibly damaging	Het
Vmn2r79	A	G	7: 87,037,872	I820M	probably damaging	Het
Wscd1	C	A	11: 71,760,218	P124T	probably benign	Het
Zfp780b	A	T	7: 27,963,100	C677S	possibly damaging	Het

Other mutations in Dip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Dip2a	APN	10	76313236	missense	probably benign
IGL00849:Dip2a	APN	10	76292318	missense	probably damaging	0.99
IGL01685:Dip2a	APN	10	76327749	missense	probably damaging	1.00
IGL01825:Dip2a	APN	10	76272680	nonsense	probably null
IGL02343:Dip2a	APN	10	76319478	missense	probably benign	0.00
IGL02437:Dip2a	APN	10	76298267	missense	probably benign	0.09
IGL02981:Dip2a	APN	10	76276421	missense	possibly damaging	0.84
IGL03122:Dip2a	APN	10	76275046	missense	probably benign	0.00
IGL03261:Dip2a	APN	10	76305148	missense	possibly damaging	0.80
R0369:Dip2a	UTSW	10	76298787	missense	probably damaging	1.00
R0522:Dip2a	UTSW	10	76321531	missense	probably benign	0.03
R0962:Dip2a	UTSW	10	76292432	unclassified	probably benign
R1164:Dip2a	UTSW	10	76276397	missense	possibly damaging	0.72
R1309:Dip2a	UTSW	10	76279776	missense	probably damaging	1.00
R1426:Dip2a	UTSW	10	76279820	unclassified	probably benign
R1636:Dip2a	UTSW	10	76321578	missense	probably benign	0.01
R1830:Dip2a	UTSW	10	76317963	missense	probably damaging	1.00
R1876:Dip2a	UTSW	10	76318091	missense	probably damaging	1.00
R2284:Dip2a	UTSW	10	76313193	missense	probably benign	0.01
R2369:Dip2a	UTSW	10	76313196	missense	probably benign
R4050:Dip2a	UTSW	10	76278607	missense	probably damaging	1.00
R4089:Dip2a	UTSW	10	76278489	splice site	probably null
R4231:Dip2a	UTSW	10	76319470	missense	probably damaging	1.00
R4715:Dip2a	UTSW	10	76296406	missense	probably benign	0.34
R4752:Dip2a	UTSW	10	76276657	missense	probably damaging	1.00
R4846:Dip2a	UTSW	10	76321493	missense	probably damaging	1.00
R4849:Dip2a	UTSW	10	76294533	missense	probably damaging	1.00
R4892:Dip2a	UTSW	10	76280759	missense	probably benign	0.02
R4998:Dip2a	UTSW	10	76319556	nonsense	probably null
R5068:Dip2a	UTSW	10	76318043	missense	possibly damaging	0.82
R5141:Dip2a	UTSW	10	76270453	missense	probably damaging	1.00
R5253:Dip2a	UTSW	10	76299997	missense	probably damaging	1.00
R5304:Dip2a	UTSW	10	76294523	missense	possibly damaging	0.67
R5324:Dip2a	UTSW	10	76296393	missense	probably damaging	1.00
R5369:Dip2a	UTSW	10	76292360	missense	probably damaging	1.00
R6272:Dip2a	UTSW	10	76286407	makesense	probably null
R6884:Dip2a	UTSW	10	76272532	critical splice donor site	probably null
R7143:Dip2a	UTSW	10	76297791	missense	probably damaging	1.00
R7247:Dip2a	UTSW	10	76272532	critical splice donor site	probably null
R7252:Dip2a	UTSW	10	76273202	missense	not run
R7327:Dip2a	UTSW	10	76272562	missense	probably benign	0.41
R7334:Dip2a	UTSW	10	76274246	missense	possibly damaging	0.91
R7349:Dip2a	UTSW	10	76285592	missense	probably damaging	1.00
R7360:Dip2a	UTSW	10	76278560	missense	probably damaging	1.00
R7513:Dip2a	UTSW	10	76313235	missense	probably benign
R7793:Dip2a	UTSW	10	76278583	missense	probably benign	0.06
R7794:Dip2a	UTSW	10	76276625	missense	probably damaging	1.00
R7819:Dip2a	UTSW	10	76291028	missense	probably benign	0.06
R8079:Dip2a	UTSW	10	76287321	missense	probably benign
R8280:Dip2a	UTSW	10	76264776	missense	possibly damaging	0.75
R8281:Dip2a	UTSW	10	76276604	missense	probably damaging	1.00
R8286:Dip2a	UTSW	10	76286463	missense	probably benign
R8350:Dip2a	UTSW	10	76264856	missense	probably damaging	1.00
R8450:Dip2a	UTSW	10	76264856	missense	probably damaging	1.00
R8525:Dip2a	UTSW	10	76274281	critical splice acceptor site	probably null
Z1088:Dip2a	UTSW	10	76285628	missense	probably benign	0.06
Z1176:Dip2a	UTSW	10	76266323	missense	possibly damaging	0.94
Z1176:Dip2a	UTSW	10	76280820	missense	probably damaging	0.97
Z1177:Dip2a	UTSW	10	76266322	missense	possibly damaging	0.51
Z1177:Dip2a	UTSW	10	76296400	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTTGATCTGAGATGCTGCAG -3'
(R):5'- ACAGAGCAGATCCTCTTCCG -3'

Sequencing Primer
(F):5'- CAGCAGGGTGAGAGTCTAGCTC -3'
(R):5'- TCCGTTTAGAAGGTCAGCAC -3'

Posted On

2014-06-23