Mutagenetix > Incidental Mutation

Incidental Mutation 'R8118:Cobl'

631350

Institutional Source

Beutler Lab

Gene Symbol

Cobl

Ensembl Gene

ENSMUSG00000020173

Gene Name

cordon-bleu WH2 repeat

Synonyms

C530045F18Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8118 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

12236608-12464960 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 12254834 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 623 (S623P)

Ref Sequence

ENSEMBL: ENSMUSP00000045693 (fasta)

Gene Model

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

AlphaFold

Q5NBX1

PDB Structure

Actin complex with Gelsolin Segment 1 fused to Cobl segment [X-RAY DIFFRACTION]
Crystal Structure of an Actin Dimer in Complex with the Actin Nucleator Cordon-Bleu [X-RAY DIFFRACTION]

Predicted Effect

probably benign
Transcript: ENSMUST00000046755
AA Change: S623P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: S623P

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: S541P

PolyPhen 2 Score 0.032 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: S541P

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: S598P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: S598P

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: S616P

PolyPhen 2 Score 0.033 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: S616P

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

1x: 99.8%
3x: 99.5%
10x: 98.2%
20x: 91.1%

Validation Efficiency

97% (68/70)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts1	T	C	16: 85,795,933	D792G	probably damaging	Het
Adcy7	A	G	8: 88,315,756	H417R	probably damaging	Het
Agr2	A	G	12: 35,996,107	D79G	probably benign	Het
Ankle1	T	C	8: 71,407,635	S286P	probably benign	Het
Arhgef11	T	C	3: 87,735,857	S1488P	probably damaging	Het
Atp6v0a2	T	C	5: 124,712,773	M421T	probably damaging	Het
Cdk17	C	A	10: 93,216,390	Q111K	possibly damaging	Het
Dgka	C	T	10: 128,722,449		probably null	Het
Dsc2	C	T	18: 20,032,274	G881R	possibly damaging	Het
Dsg2	A	G	18: 20,582,801	I267V	probably benign	Het
Exoc4	T	C	6: 33,971,918	Y899H	probably damaging	Het
Fat3	A	G	9: 15,960,104	F3664L	probably benign	Het
Fbxo47	C	T	11: 97,879,515	C17Y	probably benign	Het
Gm2888	G	T	14: 3,037,628	V207F	probably benign	Het
Gm7030	C	T	17: 36,127,690	V270M	probably damaging	Het
Gpr61	A	G	3: 108,150,572	S258P	probably damaging	Het
Hectd4	C	T	5: 121,286,376	H700Y	probably benign	Het
Hs3st2	C	T	7: 121,397,428	T154I	probably benign	Het
Inf2	A	T	12: 112,601,437	H167L	probably damaging	Het
Ints3	C	T	3: 90,400,299		probably null	Het
Ippk	C	T	13: 49,446,342	P226S		Het
Itgal	C	A	7: 127,311,245	Q509K	probably benign	Het
Klhl20	A	T	1: 161,098,401		probably null	Het
Krtap4-13	C	T	11: 99,809,398	C145Y	unknown	Het
Large1	A	G	8: 73,131,944	S99P	probably benign	Het
Lexm	T	A	4: 106,613,398	R192S	possibly damaging	Het
Lrba	A	T	3: 86,354,226	I1496L	probably benign	Het
Map2	A	T	1: 66,425,391	I1647F	probably damaging	Het
Map3k10	A	G	7: 27,673,417	V203A	possibly damaging	Het
Mcmdc2	T	A	1: 9,916,374	N166K	possibly damaging	Het
Mlxipl	T	G	5: 135,137,248	L828R	possibly damaging	Het
Mnat1	A	G	12: 73,219,090	I253V	probably benign	Het
Mtfp1	A	G	11: 4,093,910	S107P	probably damaging	Het
Nebl	T	A	2: 17,379,820	Y65F	possibly damaging	Het
Nelfb	A	T	2: 25,205,159	D339E	possibly damaging	Het
Nlrc3	T	A	16: 3,965,631	I20L	probably benign	Het
Nup205	T	A	6: 35,230,516	M1501K	probably benign	Het
Olfr1487	T	A	19: 13,619,745	N151K	probably damaging	Het
Olfr304	A	T	7: 86,385,768	C297*	probably null	Het
Olfr51	A	G	11: 51,007,500	H176R	probably damaging	Het
Olfr720	A	G	14: 14,175,863	I73T	probably damaging	Het
Olfr725	T	C	14: 50,035,151	D84G	probably benign	Het
Olfr998	T	A	2: 85,590,988	Y149*	probably null	Het
Palm3	A	G	8: 84,029,809	E650G	probably damaging	Het
Prps1l1	C	A	12: 34,985,341	L152M	probably damaging	Het
Rgs7bp	C	A	13: 105,053,121	V57F	probably damaging	Het
Scaf8	T	A	17: 3,164,183	V171D	unknown	Het
Sf3a2	T	C	10: 80,803,640	Y155H	probably damaging	Het
Sfrp1	T	G	8: 23,411,984	L67R	probably damaging	Het
Shank2	A	T	7: 144,409,875	I407L	probably benign	Het
Skint6	T	C	4: 112,865,675	T902A	possibly damaging	Het
Skint6	A	C	4: 113,156,494	S353R	possibly damaging	Het
Srrm2	T	A	17: 23,808,083	I87N	unknown	Het
Stard9	G	A	2: 120,704,430	G3723S	probably benign	Het
Svs3b	A	G	2: 164,256,006	S132P	probably damaging	Het
Tbc1d17	G	T	7: 44,843,002	F412L	probably benign	Het
Tex29	A	T	8: 11,854,263	E116D	unknown	Het
Tmem204	T	C	17: 25,080,338	D69G	possibly damaging	Het
Ttll10	G	A	4: 156,044,762	R308C	probably benign	Het
Ttn	T	A	2: 76,747,164	I24462F	probably damaging	Het
Tubg2	A	G	11: 101,161,478	E411G	probably damaging	Het
Ugt2b38	T	C	5: 87,423,771	N134S	probably damaging	Het
Usp31	T	C	7: 121,677,262	T351A	probably damaging	Het
Usp33	T	C	3: 152,360,359	L92S	probably damaging	Het
Vmn2r20	A	T	6: 123,396,470	I471N	probably damaging	Het
Wdfy4	G	A	14: 33,104,115	P1193L		Het
Wnk2	A	G	13: 49,090,983	V459A	probably damaging	Het

Other mutations in Cobl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00338:Cobl	APN	11	12375813	missense	possibly damaging	0.89
IGL00698:Cobl	APN	11	12253722	missense	probably benign	0.41
IGL00772:Cobl	APN	11	12266985	missense	probably benign	0.02
IGL00922:Cobl	APN	11	12254866	missense	probably damaging	1.00
IGL00985:Cobl	APN	11	12254843	missense	probably damaging	1.00
IGL01641:Cobl	APN	11	12309641	nonsense	probably null
IGL01722:Cobl	APN	11	12253987	missense	probably benign	0.00
IGL01734:Cobl	APN	11	12254980	splice site	probably benign
IGL01924:Cobl	APN	11	12254596	missense	probably benign	0.30
IGL02105:Cobl	APN	11	12249651	missense	probably damaging	1.00
IGL02326:Cobl	APN	11	12386712	missense	possibly damaging	0.69
IGL02342:Cobl	APN	11	12253672	missense	possibly damaging	0.64
IGL02426:Cobl	APN	11	12254351	nonsense	probably null
IGL02754:Cobl	APN	11	12254371	missense	probably damaging	1.00
IGL02754:Cobl	APN	11	12254370	missense	probably damaging	1.00
IGL02811:Cobl	APN	11	12253285	missense	possibly damaging	0.56
IGL02859:Cobl	APN	11	12369602	missense	probably damaging	1.00
IGL02999:Cobl	APN	11	12343869	missense	possibly damaging	0.71
IGL03030:Cobl	APN	11	12254241	missense	possibly damaging	0.80
IGL03191:Cobl	APN	11	12253364	missense	probably benign	0.00
PIT4418001:Cobl	UTSW	11	12256240	missense	possibly damaging	0.79
PIT4480001:Cobl	UTSW	11	12253592	missense	probably benign
PIT4495001:Cobl	UTSW	11	12254596	missense	probably benign	0.00
R0031:Cobl	UTSW	11	12254945	missense	probably benign	0.36
R0241:Cobl	UTSW	11	12254524	missense	probably benign	0.25
R0241:Cobl	UTSW	11	12254524	missense	probably benign	0.25
R0322:Cobl	UTSW	11	12267072	missense	probably damaging	1.00
R0597:Cobl	UTSW	11	12254699	missense	probably benign	0.24
R0733:Cobl	UTSW	11	12365167	missense	probably benign	0.31
R0734:Cobl	UTSW	11	12375971	missense	probably damaging	1.00
R0784:Cobl	UTSW	11	12266843	splice site	probably benign
R0884:Cobl	UTSW	11	12375908	missense	possibly damaging	0.89
R1065:Cobl	UTSW	11	12254327	missense	possibly damaging	0.67
R1331:Cobl	UTSW	11	12375853	missense	probably damaging	0.96
R1892:Cobl	UTSW	11	12253258	missense	probably damaging	0.99
R2847:Cobl	UTSW	11	12378342	missense	probably damaging	1.00
R2848:Cobl	UTSW	11	12378342	missense	probably damaging	1.00
R3407:Cobl	UTSW	11	12375830	missense	probably damaging	1.00
R4627:Cobl	UTSW	11	12251093	missense	probably damaging	1.00
R4662:Cobl	UTSW	11	12253672	missense	probably benign	0.08
R4677:Cobl	UTSW	11	12386665	missense	possibly damaging	0.93
R4844:Cobl	UTSW	11	12254740	missense	probably benign	0.10
R4942:Cobl	UTSW	11	12254185	missense	probably damaging	0.99
R5158:Cobl	UTSW	11	12256198	missense	possibly damaging	0.84
R5195:Cobl	UTSW	11	12253565	missense	probably benign	0.02
R5255:Cobl	UTSW	11	12375825	missense	probably damaging	1.00
R5588:Cobl	UTSW	11	12343886	nonsense	probably null
R5637:Cobl	UTSW	11	12296531	intron	probably benign
R5643:Cobl	UTSW	11	12306948	splice site	probably benign
R5749:Cobl	UTSW	11	12266965	missense	possibly damaging	0.86
R5953:Cobl	UTSW	11	12256220	missense	probably benign	0.00
R6000:Cobl	UTSW	11	12369684	missense	probably benign	0.08
R6373:Cobl	UTSW	11	12253118	missense	probably damaging	1.00
R7034:Cobl	UTSW	11	12254177	missense	probably damaging	1.00
R7071:Cobl	UTSW	11	12254795	missense	probably benign	0.00
R7077:Cobl	UTSW	11	12253441	missense	probably benign	0.04
R7078:Cobl	UTSW	11	12378271	missense	probably damaging	1.00
R7099:Cobl	UTSW	11	12296540	missense
R7153:Cobl	UTSW	11	12254128	missense	probably damaging	1.00
R7448:Cobl	UTSW	11	12256225	missense	possibly damaging	0.46
R7519:Cobl	UTSW	11	12253124	missense	probably damaging	1.00
R7767:Cobl	UTSW	11	12412117	start gained	probably benign
R7772:Cobl	UTSW	11	12254488	missense	probably benign	0.29
R7841:Cobl	UTSW	11	12253324	missense	probably damaging	1.00
R7845:Cobl	UTSW	11	12365139	missense	probably benign	0.35
R8026:Cobl	UTSW	11	12253459	missense	probably benign	0.01
R8192:Cobl	UTSW	11	12249745	missense	probably benign	0.07
R8320:Cobl	UTSW	11	12267001	missense	probably damaging	1.00
R8338:Cobl	UTSW	11	12253696	missense	probably benign	0.41
R9319:Cobl	UTSW	11	12253648	missense	probably benign	0.00
R9497:Cobl	UTSW	11	12253501	missense	probably benign	0.00
R9501:Cobl	UTSW	11	12378235	missense	possibly damaging	0.94
Z1176:Cobl	UTSW	11	12253433	missense	probably benign	0.02
Z1176:Cobl	UTSW	11	12369645	missense	probably damaging	1.00
Z1176:Cobl	UTSW	11	12375827	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTCTTCCTGTTATCTTGGGAAGGAG -3'
(R):5'- GGCCATGCATTCACTAACTCG -3'

Sequencing Primer
(F):5'- GGGGAGGGATCAGGCTCTTTTC -3'
(R):5'- CGTTGCTAATACTAAACGGGTGCC -3'

Posted On

2020-06-30