Mutagenetix > Incidental Mutations

Incidental Mutation 'R1876:Dip2a'

211247

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

039898-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1876 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

76259429-76345291 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 76318091 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 135 (T135M)

Ref Sequence

ENSEMBL: ENSMUSP00000101057 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000036033
AA Change: T135M

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000043710
Gene: ENSMUSG00000020231
AA Change: T135M

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 damaging
Transcript: ENSMUST00000105417
AA Change: T135M

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101057
Gene: ENSMUSG00000020231
AA Change: T135M

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: T96M

PolyPhen 2 Score 0.933 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000125184
Gene: ENSMUSG00000020231
AA Change: T96M

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

noncoding transcript
Transcript: ENSMUST00000162766

Meta Mutation Damage Score

0.1587

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 95.1%
20x: 92.2%

Validation Efficiency

99% (82/83)

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: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	C	A	5: 76,877,549	C961F	probably damaging	Het
Abca16	A	C	7: 120,433,385	D209A	probably damaging	Het
Adamts14	T	C	10: 61,200,372	I1047V	probably benign	Het
Ak1	A	G	2: 32,630,270	K27E	probably damaging	Het
Akap9	T	A	5: 3,961,809	D837E	probably benign	Het
Arfgef3	T	C	10: 18,597,356	Y1653C	probably damaging	Het
Atad2	T	G	15: 58,106,868	I446L	probably benign	Het
Atp8b3	T	G	10: 80,530,078	T313P	possibly damaging	Het
Btg4	T	C	9: 51,117,189	L72S	probably damaging	Het
Canx	A	G	11: 50,304,359	I294T	probably damaging	Het
Casp1	G	A	9: 5,303,663	E250K	probably benign	Het
Chchd10	T	A	10: 75,936,332	S46T	probably benign	Het
Col12a1	G	T	9: 79,678,281	Y1271*	probably null	Het
Col3a1	G	A	1: 45,342,235		probably null	Het
Ctc1	A	T	11: 69,031,564	T872S	probably benign	Het
Cx3cl1	T	C	8: 94,780,420	F351S	probably damaging	Het
Cyb5r4	T	A	9: 87,055,814	H295Q	probably damaging	Het
Cyp2j7	T	C	4: 96,217,419	T285A	probably benign	Het
Fgf10	A	G	13: 118,789,159	E158G	probably damaging	Het
Ftcd	G	T	10: 76,581,569	A281S	probably benign	Het
Gm16368	T	G	12: 88,084,040	I115S	probably damaging	Het
Gpat4	A	T	8: 23,179,470	M333K	possibly damaging	Het
Gpcpd1	A	G	2: 132,534,753	L541P	probably damaging	Het
Grk5	T	C	19: 61,083,225	Y408H	probably damaging	Het
Hcrtr2	A	G	9: 76,246,345		probably null	Het
Hsd17b13	T	A	5: 103,968,767	N127I	probably damaging	Het
Hspa4	T	G	11: 53,284,156	D158A	probably benign	Het
Ice2	G	A	9: 69,415,575	A451T	possibly damaging	Het
Inpp5e	A	T	2: 26,408,157	I144K	possibly damaging	Het
Kirrel	C	T	3: 87,089,151	M380I	probably null	Het
Lrrc49	T	C	9: 60,587,777	I652V	possibly damaging	Het
Man1a	A	T	10: 53,919,172	W571R	probably damaging	Het
Mecom	A	G	3: 29,993,658	S32P	probably damaging	Het
Mrpl40	A	G	16: 18,872,474	I162T	probably benign	Het
Mslnl	G	A	17: 25,742,934	V128M	probably damaging	Het
Mtmr12	T	C	15: 12,257,630	W265R	probably damaging	Het
Mup21	C	T	4: 62,149,426	V79I	probably benign	Het
Myh11	G	A	16: 14,269,103		probably benign	Het
Myom3	T	A	4: 135,779,400	F495I	probably benign	Het
Ncoa7	A	T	10: 30,698,126		probably benign	Het
Nisch	T	C	14: 31,173,637	Y45C	probably damaging	Het
Nkain2	T	A	10: 32,890,439		probably benign	Het
Olfr356	A	T	2: 36,937,763	I215F	possibly damaging	Het
Olfr728	A	G	14: 50,140,172	S156P	probably damaging	Het
Pdcl	A	C	2: 37,355,696	H98Q	probably damaging	Het
Pink1	A	G	4: 138,315,702	V427A	probably damaging	Het
Plce1	T	C	19: 38,780,623	S2242P	probably damaging	Het
Plrg1	C	A	3: 83,069,068		probably benign	Het
Plxnc1	A	G	10: 94,866,941	F586S	possibly damaging	Het
Pnpla7	G	A	2: 25,040,973	V867M	possibly damaging	Het
Ppfia3	T	A	7: 45,352,207	D427V	possibly damaging	Het
Ppp6r3	A	T	19: 3,471,971		probably benign	Het
Pros1	A	T	16: 62,903,518	S210C	probably damaging	Het
Ptk2b	A	G	14: 66,158,392	S839P	probably benign	Het
Ptpre	T	C	7: 135,678,317	V570A	possibly damaging	Het
Rbm48	C	T	5: 3,595,259	A142T	probably damaging	Het
Safb2	T	C	17: 56,576,909		probably null	Het
Scnn1a	A	G	6: 125,338,838	E384G	probably benign	Het
Sec23ip	A	G	7: 128,752,851	Y277C	probably benign	Het
Slc25a29	G	A	12: 108,827,711	T42M	probably damaging	Het
Slc6a4	A	T	11: 77,015,164	T264S	probably benign	Het
Srgap3	A	G	6: 112,775,566	M319T	probably damaging	Het
Strn4	T	A	7: 16,838,282	I640N	probably damaging	Het
Tacc2	A	G	7: 130,623,745	D739G	probably benign	Het
Tigd4	T	A	3: 84,593,935	L53*	probably null	Het
Tlr6	T	A	5: 64,955,420	D48V	probably damaging	Het
Tmem125	T	C	4: 118,541,904	D110G	probably damaging	Het
Tmem198	A	G	1: 75,484,923	D341G	probably damaging	Het
Tnfaip3	A	G	10: 19,004,934	F462L	possibly damaging	Het
Tnrc6a	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	CTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTTTTGTT	7: 123,162,446		probably benign	Het
Ush2a	T	A	1: 188,678,289	I2378N	possibly damaging	Het
Usp47	A	G	7: 112,054,920	T108A	probably damaging	Het
Vmn1r236	T	A	17: 21,286,638	I6K	probably benign	Het
Vmn2r65	A	T	7: 84,946,297	V393D	probably 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
R1823:Dip2a	UTSW	10	76278502	nonsense	probably null
R1830:Dip2a	UTSW	10	76317963	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'- CTGTTACTGACCTATGTGGGC -3'
(R):5'- TCCAGTGGCCAAGATCTCTC -3'

Sequencing Primer
(F):5'- ACCTATGTGGGCGTGGGC -3'
(R):5'- TTGGGACTCACGGGATCACTTC -3'

Posted On

2014-06-30