Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00849:Dip2a'

10176

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 #

IGL00849

Quality Score

Status

Chromosome

Chromosomal Location

76098581-76181194 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 76128152 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Asparagine at position 36 (I36N)

Ref Sequence

ENSEMBL: ENSMUSP00000125744 (fasta)

Gene Model

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

AlphaFold

Q8BWT5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036033
AA Change: I668N

PolyPhen 2 Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: I668N

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: I668N

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: I668N

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

possibly damaging
Transcript: ENSMUST00000160048
AA Change: I629N

PolyPhen 2 Score 0.806 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: I629N

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 damaging
Transcript: ENSMUST00000160442
AA Change: I36N

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125744
Gene: ENSMUSG00000020231
AA Change: I36N

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161924

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162766

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: 20 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankdd1b	C	A	13: 96,557,241 (GRCm39)	E397D	probably damaging	Het
Arhgdia	C	A	11: 120,471,065 (GRCm39)	D45Y	probably damaging	Het
Cgas	G	A	9: 78,342,770 (GRCm39)	P344L	probably damaging	Het
Dbn1	G	T	13: 55,630,002 (GRCm39)	R147S	probably damaging	Het
Elmo1	A	T	13: 20,766,493 (GRCm39)	K607*	probably null	Het
Epha6	T	G	16: 60,245,474 (GRCm39)	I242L	possibly damaging	Het
Epha7	A	G	4: 28,870,662 (GRCm39)	E313G	possibly damaging	Het
Frmd4b	T	A	6: 97,285,021 (GRCm39)	I347F	probably damaging	Het
Gucy2c	T	C	6: 136,742,612 (GRCm39)	K242R	probably benign	Het
Kif1c	G	T	11: 70,596,953 (GRCm39)	L313F	probably damaging	Het
Ncoa6	T	A	2: 155,263,608 (GRCm39)	Q275H	possibly damaging	Het
Phf20l1	C	A	15: 66,508,681 (GRCm39)	P820T	probably benign	Het
Robo2	T	C	16: 73,770,665 (GRCm39)	T487A	possibly damaging	Het
Ryr2	G	T	13: 11,600,364 (GRCm39)	L4614I	possibly damaging	Het
Tbx19	T	A	1: 164,979,609 (GRCm39)	T187S	probably benign	Het
Tomm70a	T	C	16: 56,970,173 (GRCm39)		probably benign	Het
Tsnaxip1	G	T	8: 106,568,800 (GRCm39)	D430Y	probably damaging	Het
Uvssa	G	T	5: 33,566,192 (GRCm39)	G445V	probably benign	Het
Zfp628	C	A	7: 4,923,805 (GRCm39)	L676I	probably damaging	Het
Zfp871	A	G	17: 32,994,873 (GRCm39)	Y101H	probably benign	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
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
IGL02981:Dip2a	APN	10	76,112,255 (GRCm39)	missense	possibly damaging	0.84
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

2012-12-06