Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01362:Cdh24'

75781

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cdh24

Ensembl Gene

ENSMUSG00000059674

Gene Name

cadherin-like 24

Synonyms

EY-cadherin, ENSMUSG00000022188, cadherin 14-like, 1700040A22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.202) question?

Stock #

IGL01362

Quality Score

Status

Chromosome

Chromosomal Location

54868688-54878821 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 54875889 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 227 (I227V)

Ref Sequence

ENSEMBL: ENSMUSP00000066005 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022793] [ENSMUST00000022794] [ENSMUST00000067784] [ENSMUST00000111484] [ENSMUST00000126166] [ENSMUST00000141453] [ENSMUST00000169818] [ENSMUST00000150371] [ENSMUST00000148754] [ENSMUST00000167015] [ENSMUST00000227124]

AlphaFold

Q6PFX6

Predicted Effect

probably benign
Transcript: ENSMUST00000022793

SMART Domains

Protein: ENSMUSP00000022793
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	175	N/A	INTRINSIC
low complexity region	205	220	N/A	INTRINSIC
coiled coil region	259	300	N/A	INTRINSIC
low complexity region	378	396	N/A	INTRINSIC
low complexity region	414	423	N/A	INTRINSIC
low complexity region	573	603	N/A	INTRINSIC
low complexity region	631	662	N/A	INTRINSIC
low complexity region	734	743	N/A	INTRINSIC
low complexity region	760	773	N/A	INTRINSIC
low complexity region	778	792	N/A	INTRINSIC
low complexity region	803	813	N/A	INTRINSIC
internal_repeat_1	817	892	1.63e-6	PROSPERO
low complexity region	927	952	N/A	INTRINSIC
RRM	1012	1081	8.3e-2	SMART
Pfam:RSB_motif	1139	1246	5.7e-30	PFAM
low complexity region	1275	1329	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000022794

SMART Domains

Protein: ENSMUSP00000022794
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	169	194	N/A	INTRINSIC
RRM	254	323	8.3e-2	SMART
low complexity region	355	405	N/A	INTRINSIC
low complexity region	412	450	N/A	INTRINSIC
PDB:4A8X\|B	451	475	4e-6	PDB
low complexity region	477	512	N/A	INTRINSIC
low complexity region	517	571	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000067784
AA Change: I227V

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

SMART Domains

Protein: ENSMUSP00000066005
Gene: ENSMUSG00000059674
AA Change: I227V

Domain	Start	End	E-Value	Type
signal peptide	1	22	N/A	INTRINSIC
CA	67	148	7.85e-18	SMART
CA	172	257	3.23e-28	SMART
CA	281	369	4.24e-14	SMART
CA	396	477	1.48e-22	SMART
Blast:CA	500	581	3e-31	BLAST
transmembrane domain	602	624	N/A	INTRINSIC
Pfam:Cadherin_C	627	775	2e-48	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000111484

SMART Domains

Protein: ENSMUSP00000107109
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	72	106	1.29e-8	SMART
coiled coil region	138	172	N/A	INTRINSIC
coiled coil region	219	260	N/A	INTRINSIC
low complexity region	338	356	N/A	INTRINSIC
low complexity region	374	383	N/A	INTRINSIC
low complexity region	533	563	N/A	INTRINSIC
low complexity region	591	622	N/A	INTRINSIC
low complexity region	694	703	N/A	INTRINSIC
low complexity region	720	733	N/A	INTRINSIC
low complexity region	738	752	N/A	INTRINSIC
low complexity region	763	773	N/A	INTRINSIC
internal_repeat_1	777	852	1.21e-6	PROSPERO
low complexity region	887	912	N/A	INTRINSIC
RRM	972	1041	8.3e-2	SMART
low complexity region	1073	1123	N/A	INTRINSIC
low complexity region	1130	1168	N/A	INTRINSIC
coiled coil region	1188	1253	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000126166

SMART Domains

Protein: ENSMUSP00000114546
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	154	179	N/A	INTRINSIC
RRM	239	308	8.3e-2	SMART
low complexity region	340	390	N/A	INTRINSIC
low complexity region	397	435	N/A	INTRINSIC
PDB:4A8X\|B	436	460	4e-6	PDB
low complexity region	462	497	N/A	INTRINSIC
low complexity region	502	556	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000138321

SMART Domains

Protein: ENSMUSP00000119326
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
Pfam:RSB_motif	20	128	4.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141453

SMART Domains

Protein: ENSMUSP00000116664
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	5	19	N/A	INTRINSIC
low complexity region	30	40	N/A	INTRINSIC
low complexity region	141	166	N/A	INTRINSIC
RRM	226	295	8.3e-2	SMART
low complexity region	327	377	N/A	INTRINSIC
low complexity region	384	422	N/A	INTRINSIC
PDB:4A8X\|B	423	447	4e-6	PDB
low complexity region	449	484	N/A	INTRINSIC
low complexity region	489	543	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000152773

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196776

Predicted Effect

probably benign
Transcript: ENSMUST00000169818

SMART Domains

Protein: ENSMUSP00000131860
Gene: ENSMUSG00000091306

Domain	Start	End	E-Value	Type
low complexity region	1	61	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000150371

SMART Domains

Protein: ENSMUSP00000118069
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	19	35	N/A	INTRINSIC
low complexity region	74	88	N/A	INTRINSIC
low complexity region	99	109	N/A	INTRINSIC
low complexity region	223	248	N/A	INTRINSIC
RRM	308	377	8.3e-2	SMART
low complexity region	409	459	N/A	INTRINSIC
low complexity region	466	504	N/A	INTRINSIC
PDB:4A8X\|B	505	529	3e-6	PDB
low complexity region	531	566	N/A	INTRINSIC
low complexity region	571	625	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148754

SMART Domains

Protein: ENSMUSP00000122003
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000167015

SMART Domains

Protein: ENSMUSP00000125776
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
low complexity region	21	35	N/A	INTRINSIC
low complexity region	46	56	N/A	INTRINSIC
low complexity region	170	195	N/A	INTRINSIC
RRM	255	324	8.3e-2	SMART
low complexity region	356	406	N/A	INTRINSIC
low complexity region	413	451	N/A	INTRINSIC
PDB:4A8X\|B	452	476	4e-6	PDB
low complexity region	478	513	N/A	INTRINSIC
low complexity region	518	572	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000147714

SMART Domains

Protein: ENSMUSP00000119080
Gene: ENSMUSG00000022185

Domain	Start	End	E-Value	Type
SAP	18	52	1.29e-8	SMART
coiled coil region	83	120	N/A	INTRINSIC
low complexity region	151	166	N/A	INTRINSIC
coiled coil region	204	245	N/A	INTRINSIC
low complexity region	324	342	N/A	INTRINSIC
low complexity region	360	369	N/A	INTRINSIC
low complexity region	519	549	N/A	INTRINSIC
low complexity region	577	608	N/A	INTRINSIC
low complexity region	680	689	N/A	INTRINSIC
low complexity region	706	719	N/A	INTRINSIC
low complexity region	724	738	N/A	INTRINSIC
low complexity region	749	759	N/A	INTRINSIC
low complexity region	861	886	N/A	INTRINSIC
RRM	946	1015	8.3e-2	SMART
Pfam:RSB_motif	1065	1180	1.1e-29	PFAM
low complexity region	1209	1263	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000227124

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc12	T	A	8: 87,261,322 (GRCm39)	D733V	probably benign	Het
Baz2a	G	A	10: 127,957,833 (GRCm39)	G1062D	probably damaging	Het
Bmp8a	C	A	4: 123,207,094 (GRCm39)	R389L	probably damaging	Het
Ccdc148	A	G	2: 58,719,811 (GRCm39)	V488A	probably benign	Het
Dnah6	A	G	6: 73,069,161 (GRCm39)	F2509L	probably damaging	Het
Dusp1	A	G	17: 26,725,618 (GRCm39)	I247T	probably benign	Het
Erich6	G	A	3: 58,529,781 (GRCm39)		probably null	Het
Fam186b	T	C	15: 99,178,199 (GRCm39)	T376A	probably benign	Het
Gbp9	T	C	5: 105,228,072 (GRCm39)	E570G	probably damaging	Het
Gm5117	G	T	8: 32,227,947 (GRCm39)		noncoding transcript	Het
Gpr37l1	A	G	1: 135,089,216 (GRCm39)	V283A	probably benign	Het
Heatr5b	A	G	17: 79,123,767 (GRCm39)		probably benign	Het
Ifit1bl2	G	A	19: 34,596,884 (GRCm39)	T244I	probably benign	Het
Mcoln1	T	C	8: 3,557,558 (GRCm39)	V188A	possibly damaging	Het
Mon1a	T	C	9: 107,779,883 (GRCm39)	L484P	probably damaging	Het
Mrgprg	T	A	7: 143,318,806 (GRCm39)	D102V	probably damaging	Het
Mto1	T	A	9: 78,360,056 (GRCm39)	S181R	probably benign	Het
Myh11	C	T	16: 14,095,586 (GRCm39)	V59I	probably benign	Het
Myo7a	G	A	7: 97,746,909 (GRCm39)	T163I	probably damaging	Het
Nr4a3	A	C	4: 48,051,586 (GRCm39)	Q142H	possibly damaging	Het
Or14c41	A	T	7: 86,234,647 (GRCm39)	T55S	possibly damaging	Het
Or2a14	A	G	6: 43,130,569 (GRCm39)	E110G	probably damaging	Het
Or2y15	A	G	11: 49,351,270 (GRCm39)	I255V	probably benign	Het
Or8b8	A	G	9: 37,809,359 (GRCm39)	I220V	probably benign	Het
Pkd1l2	A	G	8: 117,748,595 (GRCm39)	S1859P	probably damaging	Het
Pkhd1l1	A	G	15: 44,396,378 (GRCm39)	T1967A	probably benign	Het
Plppr3	C	T	10: 79,701,795 (GRCm39)	R349Q	probably damaging	Het
Ppp2r5d	A	G	17: 46,996,443 (GRCm39)		probably null	Het
Prl2c2	C	T	13: 13,176,828 (GRCm39)	C33Y	probably damaging	Het
Prl3d2	T	A	13: 27,306,438 (GRCm39)	L55*	probably null	Het
Ralgapb	C	T	2: 158,277,385 (GRCm39)	R250C	probably damaging	Het
Scamp3	C	T	3: 89,086,441 (GRCm39)	P63S	probably benign	Het
Slc22a6	A	G	19: 8,598,572 (GRCm39)	I210V	possibly damaging	Het
Stard13	T	A	5: 151,113,417 (GRCm39)	H48L	probably benign	Het
Tm6sf2	G	A	8: 70,530,565 (GRCm39)	R215H	probably damaging	Het
Twist2	T	C	1: 91,729,650 (GRCm39)	L101P	probably damaging	Het
Uvrag	A	G	7: 98,537,720 (GRCm39)	S492P	probably benign	Het
Zan	T	C	5: 137,450,712 (GRCm39)	T1622A	unknown	Het
Zswim2	T	A	2: 83,745,690 (GRCm39)	T583S	probably benign	Het

Other mutations in Cdh24

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02597:Cdh24	APN	14	54,870,972 (GRCm39)	missense	possibly damaging	0.55
R0088:Cdh24	UTSW	14	54,871,171 (GRCm39)	missense	probably damaging	1.00
R0480:Cdh24	UTSW	14	54,870,054 (GRCm39)	missense	probably benign	0.38
R0890:Cdh24	UTSW	14	54,870,051 (GRCm39)	missense	probably benign	0.00
R1525:Cdh24	UTSW	14	54,876,046 (GRCm39)	missense	probably damaging	1.00
R1591:Cdh24	UTSW	14	54,873,799 (GRCm39)	missense	probably benign	0.19
R1727:Cdh24	UTSW	14	54,876,095 (GRCm39)	nonsense	probably null
R3757:Cdh24	UTSW	14	54,869,637 (GRCm39)	missense	possibly damaging	0.92
R4786:Cdh24	UTSW	14	54,875,007 (GRCm39)	missense	possibly damaging	0.65
R4921:Cdh24	UTSW	14	54,870,672 (GRCm39)	missense	probably damaging	1.00
R4929:Cdh24	UTSW	14	54,870,973 (GRCm39)	missense	probably benign	0.00
R5116:Cdh24	UTSW	14	54,873,870 (GRCm39)	missense	probably benign	0.34
R5589:Cdh24	UTSW	14	54,874,832 (GRCm39)	missense	probably damaging	1.00
R5682:Cdh24	UTSW	14	54,874,805 (GRCm39)	missense	probably damaging	1.00
R5774:Cdh24	UTSW	14	54,876,514 (GRCm39)	missense	probably damaging	0.99
R6305:Cdh24	UTSW	14	54,869,813 (GRCm39)	missense	possibly damaging	0.62
R7090:Cdh24	UTSW	14	54,876,964 (GRCm39)	missense	probably damaging	1.00
R7186:Cdh24	UTSW	14	54,870,949 (GRCm39)	missense	probably benign	0.03
R7361:Cdh24	UTSW	14	54,876,378 (GRCm39)	missense	possibly damaging	0.74
R7488:Cdh24	UTSW	14	54,869,637 (GRCm39)	missense	possibly damaging	0.92
R7623:Cdh24	UTSW	14	54,875,547 (GRCm39)	missense	probably damaging	1.00
R7823:Cdh24	UTSW	14	54,874,875 (GRCm39)	missense	probably damaging	1.00
R7973:Cdh24	UTSW	14	54,876,477 (GRCm39)	missense	possibly damaging	0.87
R8017:Cdh24	UTSW	14	54,876,089 (GRCm39)	missense	probably damaging	1.00
R8019:Cdh24	UTSW	14	54,876,089 (GRCm39)	missense	probably damaging	1.00
R8029:Cdh24	UTSW	14	54,876,856 (GRCm39)	missense	probably damaging	1.00
R8070:Cdh24	UTSW	14	54,870,030 (GRCm39)	missense	probably benign
R8160:Cdh24	UTSW	14	54,875,946 (GRCm39)	missense	probably damaging	0.99
R8692:Cdh24	UTSW	14	54,875,793 (GRCm39)	missense	probably benign	0.29
R8862:Cdh24	UTSW	14	54,869,874 (GRCm39)	missense	probably damaging	1.00
R8915:Cdh24	UTSW	14	54,876,612 (GRCm39)	missense	probably damaging	1.00
R9161:Cdh24	UTSW	14	54,876,097 (GRCm39)	missense	probably damaging	1.00
R9212:Cdh24	UTSW	14	54,878,679 (GRCm39)	unclassified	probably benign

Posted On

2013-10-07