Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01722:Cobl'

105133

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cobl

Ensembl Gene

ENSMUSG00000020173

Gene Name

cordon-bleu WH2 repeat

Synonyms

C530045F18Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01722

Quality Score

Status

Chromosome

Chromosomal Location

12186676-12415022 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 12203987 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Proline at position 823 (H823P)

Ref Sequence

ENSEMBL: ENSMUSP00000105277 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000046755] [ENSMUST00000109650] [ENSMUST00000109651] [ENSMUST00000172919] [ENSMUST00000172956] [ENSMUST00000174874]

AlphaFold

Q5NBX1

Predicted Effect

probably benign
Transcript: ENSMUST00000046755
AA Change: H905P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: H905P

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
Pfam:Cobl	144	235	2.2e-46	PFAM
low complexity region	328	333	N/A	INTRINSIC
low complexity region	360	376	N/A	INTRINSIC
low complexity region	408	433	N/A	INTRINSIC
low complexity region	468	482	N/A	INTRINSIC
low complexity region	526	541	N/A	INTRINSIC
coiled coil region	564	589	N/A	INTRINSIC
WH2	1185	1205	1.32e0	SMART
WH2	1225	1245	6.36e-3	SMART
low complexity region	1276	1296	N/A	INTRINSIC
WH2	1313	1333	3.91e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109650
AA Change: H823P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: H823P

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
Pfam:Cobl	182	260	1.6e-40	PFAM
low complexity region	303	308	N/A	INTRINSIC
low complexity region	335	351	N/A	INTRINSIC
low complexity region	386	400	N/A	INTRINSIC
low complexity region	444	459	N/A	INTRINSIC
coiled coil region	482	507	N/A	INTRINSIC
WH2	1103	1123	1.32e0	SMART
WH2	1143	1163	6.36e-3	SMART
low complexity region	1194	1214	N/A	INTRINSIC
WH2	1231	1251	3.91e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109651
AA Change: H880P

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: H880P

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
Pfam:Cobl	182	260	1.2e-40	PFAM
low complexity region	303	308	N/A	INTRINSIC
low complexity region	335	351	N/A	INTRINSIC
low complexity region	383	408	N/A	INTRINSIC
low complexity region	443	457	N/A	INTRINSIC
low complexity region	501	516	N/A	INTRINSIC
coiled coil region	539	564	N/A	INTRINSIC
WH2	1160	1180	1.32e0	SMART
WH2	1200	1220	6.36e-3	SMART
low complexity region	1251	1271	N/A	INTRINSIC
WH2	1288	1308	3.91e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172919

SMART Domains

Protein: ENSMUSP00000133669
Gene: ENSMUSG00000020173

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
Pfam:Cobl	182	260	2.6e-41	PFAM
low complexity region	328	333	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000172956

SMART Domains

Protein: ENSMUSP00000134372
Gene: ENSMUSG00000020173

Domain	Start	End	E-Value	Type
low complexity region	14	30	N/A	INTRINSIC
Pfam:Cobl	182	260	2.4e-41	PFAM
low complexity region	303	308	N/A	INTRINSIC
low complexity region	335	351	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174874
AA Change: H898P

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: H898P

Domain	Start	End	E-Value	Type
low complexity region	6	23	N/A	INTRINSIC
Pfam:Cobl	175	253	1.2e-40	PFAM
low complexity region	321	326	N/A	INTRINSIC
low complexity region	353	369	N/A	INTRINSIC
low complexity region	401	426	N/A	INTRINSIC
low complexity region	461	475	N/A	INTRINSIC
low complexity region	519	534	N/A	INTRINSIC
coiled coil region	557	582	N/A	INTRINSIC
WH2	1178	1198	1.32e0	SMART
WH2	1218	1238	6.36e-3	SMART
low complexity region	1269	1289	N/A	INTRINSIC
WH2	1306	1326	3.91e-3	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that contains WH2 domains (WASP, Wiskott-Aldrich syndrome protein, homology domain-2) that interact with actin. The encoded actin regulator protein is required for growth and assembly of brush border microvilli that play a role in maintaining intestinal homeostasis. A similar protein in mouse functions in midbrain neural tube closure. A pseudogene of this gene is located on chromosome X. [provided by RefSeq, Oct 2016]
PHENOTYPE: Animals homozygous for this mutation do not display a phenotype. However, the allele exacerbates the neural tube defects seen in the loop tail mouse. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 29 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acvr1c	T	A	2: 58,173,561 (GRCm39)		probably benign	Het
Alb	G	A	5: 90,618,698 (GRCm39)		probably null	Het
Ankrd9	A	G	12: 110,943,797 (GRCm39)	V46A	probably damaging	Het
Apol11a	A	T	15: 77,401,307 (GRCm39)	M265L	probably benign	Het
Ccdc158	T	C	5: 92,810,598 (GRCm39)	N97D	possibly damaging	Het
Dnaja2	A	T	8: 86,279,908 (GRCm39)	H90Q	probably benign	Het
Dpagt1	T	C	9: 44,238,899 (GRCm39)	F73S	possibly damaging	Het
Dph3	C	T	14: 31,807,417 (GRCm39)	E20K	possibly damaging	Het
Fbxl13	G	T	5: 21,695,412 (GRCm39)	T660K	possibly damaging	Het
Gask1a	G	A	9: 121,794,149 (GRCm39)	S101N	possibly damaging	Het
Glt6d1	T	C	2: 25,684,431 (GRCm39)	T192A	probably benign	Het
Mroh7	C	T	4: 106,560,358 (GRCm39)	V649I	probably benign	Het
Mta3	T	C	17: 84,063,072 (GRCm39)	Y4H	possibly damaging	Het
Myh14	A	G	7: 44,292,956 (GRCm39)	L369P	probably damaging	Het
Or2y1	G	T	11: 49,385,793 (GRCm39)	L144F	probably damaging	Het
Or4c52	T	C	2: 89,845,351 (GRCm39)	C26R	probably benign	Het
Paxx	T	C	2: 25,350,277 (GRCm39)	D110G	probably damaging	Het
Pcyox1	T	G	6: 86,365,735 (GRCm39)	D493A	probably damaging	Het
Plk2	A	G	13: 110,535,976 (GRCm39)	E560G	probably benign	Het
Rnf6	A	G	5: 146,147,036 (GRCm39)	F661L	probably benign	Het
Sema4a	T	C	3: 88,345,491 (GRCm39)	K531E	probably benign	Het
Svs5	T	C	2: 164,079,446 (GRCm39)	K154E	possibly damaging	Het
Tbx4	A	T	11: 85,802,769 (GRCm39)	Q242L	probably damaging	Het
Tgm3	A	T	2: 129,886,488 (GRCm39)	I570F	probably damaging	Het
Thrap3	A	T	4: 126,059,322 (GRCm39)	M908K	possibly damaging	Het
Trmo	A	G	4: 46,386,092 (GRCm39)		probably null	Het
Usp8	T	A	2: 126,600,072 (GRCm39)	L997Q	probably damaging	Het
Vmn1r202	T	C	13: 22,685,890 (GRCm39)	R176G	probably benign	Het
Vps52	T	A	17: 34,180,589 (GRCm39)	Y308*	probably null	Het

Other mutations in Cobl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Cobl	APN	11	12,325,813 (GRCm39)	missense	possibly damaging	0.89
IGL00698:Cobl	APN	11	12,203,722 (GRCm39)	missense	probably benign	0.41
IGL00772:Cobl	APN	11	12,216,985 (GRCm39)	missense	probably benign	0.02
IGL00922:Cobl	APN	11	12,204,866 (GRCm39)	missense	probably damaging	1.00
IGL00985:Cobl	APN	11	12,204,843 (GRCm39)	missense	probably damaging	1.00
IGL01641:Cobl	APN	11	12,259,641 (GRCm39)	nonsense	probably null
IGL01734:Cobl	APN	11	12,204,980 (GRCm39)	splice site	probably benign
IGL01924:Cobl	APN	11	12,204,596 (GRCm39)	missense	probably benign	0.30
IGL02105:Cobl	APN	11	12,199,651 (GRCm39)	missense	probably damaging	1.00
IGL02326:Cobl	APN	11	12,336,712 (GRCm39)	missense	possibly damaging	0.69
IGL02342:Cobl	APN	11	12,203,672 (GRCm39)	missense	possibly damaging	0.64
IGL02426:Cobl	APN	11	12,204,351 (GRCm39)	nonsense	probably null
IGL02754:Cobl	APN	11	12,204,370 (GRCm39)	missense	probably damaging	1.00
IGL02754:Cobl	APN	11	12,204,371 (GRCm39)	missense	probably damaging	1.00
IGL02811:Cobl	APN	11	12,203,285 (GRCm39)	missense	possibly damaging	0.56
IGL02859:Cobl	APN	11	12,319,602 (GRCm39)	missense	probably damaging	1.00
IGL02999:Cobl	APN	11	12,293,869 (GRCm39)	missense	possibly damaging	0.71
IGL03030:Cobl	APN	11	12,204,241 (GRCm39)	missense	possibly damaging	0.80
IGL03191:Cobl	APN	11	12,203,364 (GRCm39)	missense	probably benign	0.00
PIT4418001:Cobl	UTSW	11	12,206,240 (GRCm39)	missense	possibly damaging	0.79
PIT4480001:Cobl	UTSW	11	12,203,592 (GRCm39)	missense	probably benign
PIT4495001:Cobl	UTSW	11	12,204,596 (GRCm39)	missense	probably benign	0.00
R0031:Cobl	UTSW	11	12,204,945 (GRCm39)	missense	probably benign	0.36
R0241:Cobl	UTSW	11	12,204,524 (GRCm39)	missense	probably benign	0.25
R0241:Cobl	UTSW	11	12,204,524 (GRCm39)	missense	probably benign	0.25
R0322:Cobl	UTSW	11	12,217,072 (GRCm39)	missense	probably damaging	1.00
R0597:Cobl	UTSW	11	12,204,699 (GRCm39)	missense	probably benign	0.24
R0733:Cobl	UTSW	11	12,315,167 (GRCm39)	missense	probably benign	0.31
R0734:Cobl	UTSW	11	12,325,971 (GRCm39)	missense	probably damaging	1.00
R0784:Cobl	UTSW	11	12,216,843 (GRCm39)	splice site	probably benign
R0884:Cobl	UTSW	11	12,325,908 (GRCm39)	missense	possibly damaging	0.89
R1065:Cobl	UTSW	11	12,204,327 (GRCm39)	missense	possibly damaging	0.67
R1331:Cobl	UTSW	11	12,325,853 (GRCm39)	missense	probably damaging	0.96
R1892:Cobl	UTSW	11	12,203,258 (GRCm39)	missense	probably damaging	0.99
R2847:Cobl	UTSW	11	12,328,342 (GRCm39)	missense	probably damaging	1.00
R2848:Cobl	UTSW	11	12,328,342 (GRCm39)	missense	probably damaging	1.00
R3407:Cobl	UTSW	11	12,325,830 (GRCm39)	missense	probably damaging	1.00
R4627:Cobl	UTSW	11	12,201,093 (GRCm39)	missense	probably damaging	1.00
R4662:Cobl	UTSW	11	12,203,672 (GRCm39)	missense	probably benign	0.08
R4677:Cobl	UTSW	11	12,336,665 (GRCm39)	missense	possibly damaging	0.93
R4844:Cobl	UTSW	11	12,204,740 (GRCm39)	missense	probably benign	0.10
R4942:Cobl	UTSW	11	12,204,185 (GRCm39)	missense	probably damaging	0.99
R5158:Cobl	UTSW	11	12,206,198 (GRCm39)	missense	possibly damaging	0.84
R5195:Cobl	UTSW	11	12,203,565 (GRCm39)	missense	probably benign	0.02
R5255:Cobl	UTSW	11	12,325,825 (GRCm39)	missense	probably damaging	1.00
R5588:Cobl	UTSW	11	12,293,886 (GRCm39)	nonsense	probably null
R5637:Cobl	UTSW	11	12,246,531 (GRCm39)	intron	probably benign
R5643:Cobl	UTSW	11	12,256,948 (GRCm39)	splice site	probably benign
R5749:Cobl	UTSW	11	12,216,965 (GRCm39)	missense	possibly damaging	0.86
R5953:Cobl	UTSW	11	12,206,220 (GRCm39)	missense	probably benign	0.00
R6000:Cobl	UTSW	11	12,319,684 (GRCm39)	missense	probably benign	0.08
R6373:Cobl	UTSW	11	12,203,118 (GRCm39)	missense	probably damaging	1.00
R7034:Cobl	UTSW	11	12,204,177 (GRCm39)	missense	probably damaging	1.00
R7071:Cobl	UTSW	11	12,204,795 (GRCm39)	missense	probably benign	0.00
R7077:Cobl	UTSW	11	12,203,441 (GRCm39)	missense	probably benign	0.04
R7078:Cobl	UTSW	11	12,328,271 (GRCm39)	missense	probably damaging	1.00
R7099:Cobl	UTSW	11	12,246,540 (GRCm39)	missense
R7153:Cobl	UTSW	11	12,204,128 (GRCm39)	missense	probably damaging	1.00
R7448:Cobl	UTSW	11	12,206,225 (GRCm39)	missense	possibly damaging	0.46
R7519:Cobl	UTSW	11	12,203,124 (GRCm39)	missense	probably damaging	1.00
R7767:Cobl	UTSW	11	12,362,117 (GRCm39)	start gained	probably benign
R7772:Cobl	UTSW	11	12,204,488 (GRCm39)	missense	probably benign	0.29
R7841:Cobl	UTSW	11	12,203,324 (GRCm39)	missense	probably damaging	1.00
R7845:Cobl	UTSW	11	12,315,139 (GRCm39)	missense	probably benign	0.35
R8026:Cobl	UTSW	11	12,203,459 (GRCm39)	missense	probably benign	0.01
R8118:Cobl	UTSW	11	12,204,834 (GRCm39)	missense	probably benign	0.03
R8192:Cobl	UTSW	11	12,199,745 (GRCm39)	missense	probably benign	0.07
R8320:Cobl	UTSW	11	12,217,001 (GRCm39)	missense	probably damaging	1.00
R8338:Cobl	UTSW	11	12,203,696 (GRCm39)	missense	probably benign	0.41
R9319:Cobl	UTSW	11	12,203,648 (GRCm39)	missense	probably benign	0.00
R9497:Cobl	UTSW	11	12,203,501 (GRCm39)	missense	probably benign	0.00
R9501:Cobl	UTSW	11	12,328,235 (GRCm39)	missense	possibly damaging	0.94
Z1176:Cobl	UTSW	11	12,325,827 (GRCm39)	missense	probably damaging	1.00
Z1176:Cobl	UTSW	11	12,319,645 (GRCm39)	missense	probably damaging	1.00
Z1176:Cobl	UTSW	11	12,203,433 (GRCm39)	missense	probably benign	0.02

Posted On

2014-01-21