Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02981:Dip2a'

406554

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Dip2a

Ensembl Gene

ENSMUSG00000020231

Gene Name

disco interacting protein 2 homolog A

Synonyms

Dip2, Kiaa0184-hp, 4931420H10Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL02981

Quality Score

Status

Chromosome

Chromosomal Location

76098581-76181194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 76112255 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 1090 (V1090A)

Ref Sequence

ENSEMBL: ENSMUSP00000043710 (fasta)

Gene Model

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

AlphaFold

Q8BWT5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036033
AA Change: V1090A

PolyPhen 2 Score 0.844 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: V1090A

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

possibly damaging
Transcript: ENSMUST00000105417
AA Change: V1100A

PolyPhen 2 Score 0.548 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: V1100A

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 benign
Transcript: ENSMUST00000160048
AA Change: V1051A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: V1051A

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

Coding Region Coverage

Validation Efficiency

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd12	A	G	2: 150,675,044 (GRCm39)	S392P	probably benign	Het
Adam23	G	A	1: 63,610,112 (GRCm39)	V705I	probably damaging	Het
Ank2	T	G	3: 126,728,211 (GRCm39)	D794A	possibly damaging	Het
Ank2	C	A	3: 126,749,519 (GRCm39)	E503D	probably damaging	Het
Aqr	T	C	2: 113,965,305 (GRCm39)		probably benign	Het
Atp9b	A	G	18: 80,797,504 (GRCm39)	V857A	possibly damaging	Het
Banp	T	C	8: 122,705,303 (GRCm39)	Y58H	possibly damaging	Het
Cacna1e	T	A	1: 154,347,171 (GRCm39)	N999Y	probably benign	Het
Cd14	T	C	18: 36,859,532 (GRCm39)		probably benign	Het
Crmp1	T	C	5: 37,443,770 (GRCm39)	I447T	probably damaging	Het
Ep400	T	A	5: 110,903,969 (GRCm39)	H210L	possibly damaging	Het
Ep400	T	A	5: 110,839,476 (GRCm39)		probably benign	Het
Fam243	T	C	16: 92,117,757 (GRCm39)	N177S	probably benign	Het
Fbxw26	A	G	9: 109,573,862 (GRCm39)	F97L	probably benign	Het
Fut8	C	A	12: 77,521,812 (GRCm39)	P484T	probably damaging	Het
Golph3	A	G	15: 12,349,550 (GRCm39)	E190G	probably benign	Het
Hectd1	A	T	12: 51,815,670 (GRCm39)	D1472E	possibly damaging	Het
Hnrnpdl	T	C	5: 100,184,958 (GRCm39)	I298V	possibly damaging	Het
Jakmip2	C	A	18: 43,695,595 (GRCm39)		probably null	Het
Kcnj5	G	A	9: 32,233,877 (GRCm39)	T146I	probably damaging	Het
Lyst	T	G	13: 13,809,496 (GRCm39)	F389V	probably damaging	Het
Myo1b	A	G	1: 51,817,532 (GRCm39)	S577P	probably damaging	Het
Myo3b	T	C	2: 69,938,969 (GRCm39)	V114A	probably damaging	Het
Or10a2	C	A	7: 106,673,758 (GRCm39)	T241N	probably damaging	Het
Pappa2	C	T	1: 158,678,714 (GRCm39)	G901R	probably benign	Het
Patz1	T	C	11: 3,240,656 (GRCm39)	Y15H	probably damaging	Het
Pdp2	T	C	8: 105,320,267 (GRCm39)	W39R	probably benign	Het
Poc5	T	C	13: 96,538,265 (GRCm39)		probably null	Het
Pou3f1	A	G	4: 124,552,236 (GRCm39)	D246G	probably damaging	Het
Pramel5	T	A	4: 143,999,430 (GRCm39)	Y219F	probably benign	Het
Prrc2c	C	T	1: 162,532,748 (GRCm39)		probably benign	Het
Ptpn13	A	G	5: 103,676,670 (GRCm39)	K678E	probably damaging	Het
Rps2	T	C	17: 24,940,698 (GRCm39)	F271L	probably benign	Het
Serpina3k	C	A	12: 104,307,250 (GRCm39)	Q161K	probably benign	Het
Serpinb6b	A	G	13: 33,155,589 (GRCm39)	T101A	probably benign	Het
Tprkb	T	A	6: 85,904,861 (GRCm39)	D112E	probably benign	Het
Tubal3	A	G	13: 3,983,257 (GRCm39)	T346A	probably benign	Het
Vwde	A	G	6: 13,193,112 (GRCm39)	F409S	possibly damaging	Het
Zbtb6	G	A	2: 37,319,176 (GRCm39)	Q251*	probably null	Het

Other mutations in Dip2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00422:Dip2a	APN	10	76,149,070 (GRCm39)	missense	probably benign
IGL00849:Dip2a	APN	10	76,128,152 (GRCm39)	missense	probably damaging	0.99
IGL01685:Dip2a	APN	10	76,163,583 (GRCm39)	missense	probably damaging	1.00
IGL01825:Dip2a	APN	10	76,108,514 (GRCm39)	nonsense	probably null
IGL02343:Dip2a	APN	10	76,155,312 (GRCm39)	missense	probably benign	0.00
IGL02437:Dip2a	APN	10	76,134,101 (GRCm39)	missense	probably benign	0.09
IGL03122:Dip2a	APN	10	76,110,880 (GRCm39)	missense	probably benign	0.00
IGL03261:Dip2a	APN	10	76,140,982 (GRCm39)	missense	possibly damaging	0.80
R0369:Dip2a	UTSW	10	76,134,621 (GRCm39)	missense	probably damaging	1.00
R0522:Dip2a	UTSW	10	76,157,365 (GRCm39)	missense	probably benign	0.03
R0962:Dip2a	UTSW	10	76,128,266 (GRCm39)	unclassified	probably benign
R1164:Dip2a	UTSW	10	76,112,231 (GRCm39)	missense	possibly damaging	0.72
R1309:Dip2a	UTSW	10	76,115,610 (GRCm39)	missense	probably damaging	1.00
R1426:Dip2a	UTSW	10	76,115,654 (GRCm39)	unclassified	probably benign
R1636:Dip2a	UTSW	10	76,157,412 (GRCm39)	missense	probably benign	0.01
R1823:Dip2a	UTSW	10	76,114,336 (GRCm39)	nonsense	probably null
R1830:Dip2a	UTSW	10	76,153,797 (GRCm39)	missense	probably damaging	1.00
R1876:Dip2a	UTSW	10	76,153,925 (GRCm39)	missense	probably damaging	1.00
R2284:Dip2a	UTSW	10	76,149,027 (GRCm39)	missense	probably benign	0.01
R2369:Dip2a	UTSW	10	76,149,030 (GRCm39)	missense	probably benign
R4050:Dip2a	UTSW	10	76,114,441 (GRCm39)	missense	probably damaging	1.00
R4089:Dip2a	UTSW	10	76,114,323 (GRCm39)	splice site	probably null
R4231:Dip2a	UTSW	10	76,155,304 (GRCm39)	missense	probably damaging	1.00
R4715:Dip2a	UTSW	10	76,132,240 (GRCm39)	missense	probably benign	0.34
R4752:Dip2a	UTSW	10	76,112,491 (GRCm39)	missense	probably damaging	1.00
R4846:Dip2a	UTSW	10	76,157,327 (GRCm39)	missense	probably damaging	1.00
R4849:Dip2a	UTSW	10	76,130,367 (GRCm39)	missense	probably damaging	1.00
R4892:Dip2a	UTSW	10	76,116,593 (GRCm39)	missense	probably benign	0.02
R4998:Dip2a	UTSW	10	76,155,390 (GRCm39)	nonsense	probably null
R5068:Dip2a	UTSW	10	76,153,877 (GRCm39)	missense	possibly damaging	0.82
R5141:Dip2a	UTSW	10	76,106,287 (GRCm39)	missense	probably damaging	1.00
R5253:Dip2a	UTSW	10	76,135,831 (GRCm39)	missense	probably damaging	1.00
R5304:Dip2a	UTSW	10	76,130,357 (GRCm39)	missense	possibly damaging	0.67
R5324:Dip2a	UTSW	10	76,132,227 (GRCm39)	missense	probably damaging	1.00
R5369:Dip2a	UTSW	10	76,128,194 (GRCm39)	missense	probably damaging	1.00
R6272:Dip2a	UTSW	10	76,122,241 (GRCm39)	makesense	probably null
R6884:Dip2a	UTSW	10	76,108,366 (GRCm39)	critical splice donor site	probably null
R7143:Dip2a	UTSW	10	76,133,625 (GRCm39)	missense	probably damaging	1.00
R7247:Dip2a	UTSW	10	76,108,366 (GRCm39)	critical splice donor site	probably null
R7252:Dip2a	UTSW	10	76,109,036 (GRCm39)	missense	not run
R7327:Dip2a	UTSW	10	76,108,396 (GRCm39)	missense	probably benign	0.41
R7334:Dip2a	UTSW	10	76,110,080 (GRCm39)	missense	possibly damaging	0.91
R7349:Dip2a	UTSW	10	76,121,426 (GRCm39)	missense	probably damaging	1.00
R7360:Dip2a	UTSW	10	76,114,394 (GRCm39)	missense	probably damaging	1.00
R7513:Dip2a	UTSW	10	76,149,069 (GRCm39)	missense	probably benign
R7793:Dip2a	UTSW	10	76,114,417 (GRCm39)	missense	probably benign	0.06
R7794:Dip2a	UTSW	10	76,112,459 (GRCm39)	missense	probably damaging	1.00
R7819:Dip2a	UTSW	10	76,126,862 (GRCm39)	missense	probably benign	0.06
R8079:Dip2a	UTSW	10	76,123,155 (GRCm39)	missense	probably benign
R8280:Dip2a	UTSW	10	76,100,610 (GRCm39)	missense	possibly damaging	0.75
R8281:Dip2a	UTSW	10	76,112,438 (GRCm39)	missense	probably damaging	1.00
R8286:Dip2a	UTSW	10	76,122,297 (GRCm39)	missense	probably benign
R8350:Dip2a	UTSW	10	76,100,690 (GRCm39)	missense	probably damaging	1.00
R8450:Dip2a	UTSW	10	76,100,690 (GRCm39)	missense	probably damaging	1.00
R8525:Dip2a	UTSW	10	76,110,115 (GRCm39)	critical splice acceptor site	probably null
R8824:Dip2a	UTSW	10	76,114,320 (GRCm39)	critical splice donor site	probably null
R8897:Dip2a	UTSW	10	76,110,098 (GRCm39)	missense	probably benign	0.22
R9039:Dip2a	UTSW	10	76,163,553 (GRCm39)	missense	probably benign	0.00
R9286:Dip2a	UTSW	10	76,138,096 (GRCm39)	missense	probably benign	0.05
R9504:Dip2a	UTSW	10	76,132,189 (GRCm39)	missense	probably damaging	1.00
R9523:Dip2a	UTSW	10	76,112,438 (GRCm39)	missense	probably damaging	1.00
R9628:Dip2a	UTSW	10	76,142,993 (GRCm39)	missense	probably damaging	0.99
R9732:Dip2a	UTSW	10	76,110,077 (GRCm39)	missense	probably benign	0.11
Z1088:Dip2a	UTSW	10	76,121,462 (GRCm39)	missense	probably benign	0.06
Z1176:Dip2a	UTSW	10	76,116,654 (GRCm39)	missense	probably damaging	0.97
Z1176:Dip2a	UTSW	10	76,102,157 (GRCm39)	missense	possibly damaging	0.94
Z1177:Dip2a	UTSW	10	76,132,234 (GRCm39)	missense	probably damaging	1.00
Z1177:Dip2a	UTSW	10	76,102,156 (GRCm39)	missense	possibly damaging	0.51

Posted On

2016-08-02