Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02426:Cobl'

292918

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 #

IGL02426

Quality Score

Status

Chromosome

Chromosomal Location

12186676-12415022 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 12204351 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Stop codon at position 777 (K777*)

Ref Sequence

ENSEMBL: ENSMUSP00000133470 (fasta)

Gene Model

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

AlphaFold

Q5NBX1

Predicted Effect

probably null
Transcript: ENSMUST00000046755
AA Change: K784*

SMART Domains

Protein: ENSMUSP00000045693
Gene: ENSMUSG00000020173
AA Change: K784*

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 null
Transcript: ENSMUST00000109650
AA Change: K702*

SMART Domains

Protein: ENSMUSP00000105277
Gene: ENSMUSG00000020173
AA Change: K702*

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 null
Transcript: ENSMUST00000109651
AA Change: K759*

SMART Domains

Protein: ENSMUSP00000105278
Gene: ENSMUSG00000020173
AA Change: K759*

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 null
Transcript: ENSMUST00000174874
AA Change: K777*

SMART Domains

Protein: ENSMUSP00000133470
Gene: ENSMUSG00000020173
AA Change: K777*

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: 35 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	G	A	16: 20,157,675 (GRCm39)	T1294M	probably damaging	Het
Bad	A	G	19: 6,928,785 (GRCm39)	S128G	probably damaging	Het
Casp9	T	G	4: 141,539,515 (GRCm39)		probably null	Het
Ccdc39	T	C	3: 33,879,547 (GRCm39)	K507R	possibly damaging	Het
Cep76	A	G	18: 67,767,987 (GRCm39)	S182P	probably benign	Het
Cmklr2	T	C	1: 63,222,827 (GRCm39)	Y136C	probably damaging	Het
Cmtr2	A	G	8: 110,948,322 (GRCm39)	M211V	possibly damaging	Het
Cul9	T	G	17: 46,834,184 (GRCm39)	T1253P	possibly damaging	Het
Dmd	T	A	X: 83,892,342 (GRCm39)	L3002H	probably damaging	Het
Dnah9	C	T	11: 66,015,979 (GRCm39)	V421I	probably benign	Het
Eif4a2	A	G	16: 22,929,399 (GRCm39)	I234V	probably benign	Het
Epha4	T	C	1: 77,421,514 (GRCm39)	M323V	probably benign	Het
Fam47c	A	G	X: 77,781,943 (GRCm39)	D175G	probably benign	Het
Gm14178	T	C	11: 99,638,341 (GRCm39)			Het
Hes3	T	C	4: 152,371,397 (GRCm39)	N184S	probably benign	Het
Kdm6a	A	G	X: 18,112,549 (GRCm39)	E45G	probably damaging	Het
Kdr	T	C	5: 76,135,126 (GRCm39)	K33E	probably benign	Het
Or2a52	A	C	6: 43,144,022 (GRCm39)	D10A	probably benign	Het
Or4k37	A	T	2: 111,158,920 (GRCm39)	D52V	probably damaging	Het
Or4k45	A	T	2: 111,394,883 (GRCm39)	I302K	probably benign	Het
Or52n4b	A	G	7: 108,144,187 (GRCm39)	T150A	probably benign	Het
Or8h7	A	G	2: 86,720,964 (GRCm39)	L185S	probably damaging	Het
Pi4ka	A	T	16: 17,196,296 (GRCm39)		probably benign	Het
Pigk	T	A	3: 152,448,120 (GRCm39)		probably null	Het
Pikfyve	A	G	1: 65,290,771 (GRCm39)	T1197A	possibly damaging	Het
Plppr4	T	C	3: 117,115,944 (GRCm39)	I638V	probably benign	Het
Pramel28	T	C	4: 143,693,229 (GRCm39)	D83G	possibly damaging	Het
Rtl9	T	C	X: 141,886,098 (GRCm39)	V1170A	probably damaging	Het
Ryr3	A	G	2: 112,731,250 (GRCm39)	S687P	possibly damaging	Het
Skint5	T	C	4: 113,797,981 (GRCm39)	T201A	probably benign	Het
Socs5	G	T	17: 87,442,320 (GRCm39)	R420L	probably damaging	Het
Sos1	C	T	17: 80,742,372 (GRCm39)	S385N	possibly damaging	Het
Tomm34	A	T	2: 163,906,875 (GRCm39)	V106D	probably damaging	Het
Tubal3	T	C	13: 3,982,750 (GRCm39)	S177P	probably damaging	Het
Wbp2nl	G	A	15: 82,190,374 (GRCm39)	A101T	probably damaging	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
IGL01722:Cobl	APN	11	12,203,987 (GRCm39)	missense	probably benign	0.00
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
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

2015-04-16