Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00966:Cux1'

27506

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Cux1

Ensembl Gene

ENSMUSG00000029705

Gene Name

cut-like homeobox 1

Synonyms

CDP, Cutl1, Cux, Cux-1

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

IGL00966

Quality Score

Status

Chromosome

Chromosomal Location

136276989-136596344 bp(-) (GRCm39)

Type of Mutation

intron

DNA Base Change (assembly)

A to T at 136340345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000134819 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004097] [ENSMUST00000175918] [ENSMUST00000175975] [ENSMUST00000175998] [ENSMUST00000176172] [ENSMUST00000176216] [ENSMUST00000176778] [ENSMUST00000176423] [ENSMUST00000177297] [ENSMUST00000176745]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004097

SMART Domains

Protein: ENSMUSP00000004097
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	16	45	N/A	INTRINSIC
coiled coil region	110	365	N/A	INTRINSIC
low complexity region	425	436	N/A	INTRINSIC
CUT	452	538	5.06e-39	SMART
low complexity region	602	608	N/A	INTRINSIC
low complexity region	620	642	N/A	INTRINSIC
CUT	841	929	3.31e-43	SMART
low complexity region	956	972	N/A	INTRINSIC
low complexity region	990	1011	N/A	INTRINSIC
CUT	1024	1110	3.78e-38	SMART
HOX	1150	1212	6.32e-15	SMART
low complexity region	1224	1239	N/A	INTRINSIC
low complexity region	1317	1379	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000148082

Predicted Effect

probably benign
Transcript: ENSMUST00000175918

SMART Domains

Protein: ENSMUSP00000135606
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	73	328	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175975

SMART Domains

Protein: ENSMUSP00000135223
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	1	169	N/A	INTRINSIC
low complexity region	235	251	N/A	INTRINSIC
low complexity region	277	289	N/A	INTRINSIC
low complexity region	331	342	N/A	INTRINSIC
CUT	358	444	5.06e-39	SMART
low complexity region	508	514	N/A	INTRINSIC
low complexity region	526	548	N/A	INTRINSIC
CUT	747	835	3.31e-43	SMART
low complexity region	862	878	N/A	INTRINSIC
low complexity region	896	917	N/A	INTRINSIC
CUT	930	1016	3.78e-38	SMART
HOX	1056	1118	6.32e-15	SMART
low complexity region	1130	1145	N/A	INTRINSIC
low complexity region	1223	1285	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000175998

SMART Domains

Protein: ENSMUSP00000135816
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
coiled coil region	76	148	N/A	INTRINSIC
Pfam:CASP_C	204	430	8.6e-72	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176172

SMART Domains

Protein: ENSMUSP00000135086
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	99	354	N/A	INTRINSIC
low complexity region	420	436	N/A	INTRINSIC
low complexity region	462	474	N/A	INTRINSIC
low complexity region	516	527	N/A	INTRINSIC
CUT	543	629	5.06e-39	SMART
low complexity region	693	699	N/A	INTRINSIC
low complexity region	711	733	N/A	INTRINSIC
CUT	932	1020	3.31e-43	SMART
low complexity region	1047	1063	N/A	INTRINSIC
low complexity region	1081	1102	N/A	INTRINSIC
CUT	1115	1201	3.78e-38	SMART
HOX	1241	1303	6.32e-15	SMART
low complexity region	1315	1330	N/A	INTRINSIC
low complexity region	1408	1470	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176216

SMART Domains

Protein: ENSMUSP00000135054
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	16	45	N/A	INTRINSIC
coiled coil region	110	365	N/A	INTRINSIC
internal_repeat_1	369	390	9.35e-5	PROSPERO
Pfam:CASP_C	421	647	1.2e-71	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176778

SMART Domains

Protein: ENSMUSP00000135892
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
low complexity region	78	86	N/A	INTRINSIC
coiled coil region	195	448	N/A	INTRINSIC
low complexity region	508	519	N/A	INTRINSIC
CUT	535	621	5.06e-39	SMART
low complexity region	685	691	N/A	INTRINSIC
low complexity region	703	725	N/A	INTRINSIC
CUT	924	1012	3.31e-43	SMART
low complexity region	1039	1055	N/A	INTRINSIC
low complexity region	1073	1094	N/A	INTRINSIC
CUT	1107	1193	3.78e-38	SMART
HOX	1233	1295	6.32e-15	SMART
low complexity region	1307	1322	N/A	INTRINSIC
low complexity region	1400	1462	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176486

SMART Domains

Protein: ENSMUSP00000135370
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	16	45	N/A	INTRINSIC
coiled coil region	110	363	N/A	INTRINSIC
low complexity region	429	445	N/A	INTRINSIC
low complexity region	471	483	N/A	INTRINSIC
low complexity region	525	536	N/A	INTRINSIC
CUT	552	638	5.06e-39	SMART
Blast:CUT	641	840	3e-50	BLAST
CUT	919	1007	3.31e-43	SMART
low complexity region	1034	1050	N/A	INTRINSIC
low complexity region	1068	1089	N/A	INTRINSIC
CUT	1102	1188	3.78e-38	SMART
HOX	1228	1290	6.32e-15	SMART
low complexity region	1302	1317	N/A	INTRINSIC
low complexity region	1395	1457	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000176423

SMART Domains

Protein: ENSMUSP00000135036
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	1	39	N/A	INTRINSIC
low complexity region	52	64	N/A	INTRINSIC
coiled coil region	76	148	N/A	INTRINSIC
low complexity region	217	226	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000177297

SMART Domains

Protein: ENSMUSP00000134819
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	16	45	N/A	INTRINSIC
coiled coil region	110	365	N/A	INTRINSIC
internal_repeat_1	369	390	8.99e-6	PROSPERO
Pfam:CASP_C	422	527	1.8e-17	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176745

SMART Domains

Protein: ENSMUSP00000135512
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
coiled coil region	16	45	N/A	INTRINSIC
coiled coil region	110	363	N/A	INTRINSIC
internal_repeat_1	367	388	8.95e-5	PROSPERO
Pfam:CASP_C	419	645	1.2e-71	PFAM

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation exhibit delayed lung development and neonatal mortality. Survivors show growth retardation and hair defects. Homozygotes for a partially deleted protein have curly hair, and females tend to lose their litters. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad11	A	G	9: 104,003,855 (GRCm39)	E649G	probably damaging	Het
Adgre1	C	A	17: 57,726,335 (GRCm39)	T402K	probably benign	Het
Agap3	A	G	5: 24,706,000 (GRCm39)		probably benign	Het
Amy1	T	C	3: 113,349,689 (GRCm39)	I494V	probably benign	Het
Arhgef40	G	A	14: 52,229,155 (GRCm39)		probably null	Het
Atp2c2	T	C	8: 120,472,329 (GRCm39)	V461A	probably benign	Het
Bub1	A	G	2: 127,652,583 (GRCm39)	S595P	probably damaging	Het
Cdcp3	T	A	7: 130,844,836 (GRCm39)	Y692*	probably null	Het
Cmya5	C	T	13: 93,234,414 (GRCm39)	V225I	probably benign	Het
Cnbd1	T	C	4: 18,906,988 (GRCm39)		probably benign	Het
Dsg3	T	A	18: 20,656,664 (GRCm39)	I178N	probably benign	Het
Dus2	T	A	8: 106,752,533 (GRCm39)		probably null	Het
Enpp1	G	A	10: 24,529,929 (GRCm39)	H570Y	probably damaging	Het
Ephb3	A	C	16: 21,036,044 (GRCm39)	T57P	probably benign	Het
Fat3	C	A	9: 15,910,390 (GRCm39)	V1871F	possibly damaging	Het
Fbll1	T	C	11: 35,688,874 (GRCm39)	T130A	probably benign	Het
Fbxl20	C	T	11: 98,001,800 (GRCm39)	S99N	probably damaging	Het
Folr2	T	C	7: 101,489,593 (GRCm39)	E182G	probably damaging	Het
Fras1	A	G	5: 96,703,080 (GRCm39)	D281G	probably benign	Het
Gm17175	G	T	14: 51,810,526 (GRCm39)	Q34K	possibly damaging	Het
Gm5592	T	A	7: 40,938,519 (GRCm39)	D600E	probably damaging	Het
Gtf2e1	T	C	16: 37,336,092 (GRCm39)	E294G	probably benign	Het
Gtf3c2	A	G	5: 31,327,517 (GRCm39)		probably benign	Het
Heg1	T	C	16: 33,530,977 (GRCm39)	L151P	probably damaging	Het
Hmcn2	T	G	2: 31,319,006 (GRCm39)	V3902G	probably damaging	Het
Ift140	A	G	17: 25,237,776 (GRCm39)	Y4C	probably damaging	Het
Ighv1-19	A	C	12: 114,672,569 (GRCm39)	V17G	possibly damaging	Het
Iqca1	T	A	1: 89,973,379 (GRCm39)	I770F	probably benign	Het
Jak3	T	A	8: 72,131,656 (GRCm39)	C115S	probably benign	Het
Kif18b	A	T	11: 102,805,501 (GRCm39)	M252K	probably damaging	Het
Klhdc7a	A	T	4: 139,694,236 (GRCm39)	V237D	probably benign	Het
Klhl11	C	T	11: 100,354,031 (GRCm39)	V597I	possibly damaging	Het
Krt72	T	A	15: 101,689,396 (GRCm39)	Y312F	probably damaging	Het
Lonp2	T	A	8: 87,360,600 (GRCm39)	I191N	probably damaging	Het
Npc2	A	T	12: 84,819,619 (GRCm39)	I8N	possibly damaging	Het
Nr4a1	T	C	15: 101,170,669 (GRCm39)	L413P	probably damaging	Het
Nup133	T	C	8: 124,638,645 (GRCm39)	N895S	probably damaging	Het
Or7e175	T	C	9: 20,048,531 (GRCm39)	F40L	probably benign	Het
Ppef1	A	G	X: 159,468,290 (GRCm39)	I94T	probably benign	Het
Prrt4	G	A	6: 29,176,455 (GRCm39)	T290I	probably benign	Het
Ptpru	A	T	4: 131,499,927 (GRCm39)	V1239E	probably damaging	Het
Rab8b	T	G	9: 66,760,274 (GRCm39)	M117L	probably benign	Het
S1pr5	T	A	9: 21,155,512 (GRCm39)	I305F	possibly damaging	Het
Sdr39u1	A	G	14: 56,135,463 (GRCm39)	V160A	probably damaging	Het
Slc6a21	C	T	7: 44,937,668 (GRCm39)	T653M	probably benign	Het
Stk39	T	A	2: 68,042,302 (GRCm39)	E544D	probably benign	Het
Tgfbr3	T	C	5: 107,290,367 (GRCm39)	T313A	probably benign	Het
Tle6	A	T	10: 81,430,292 (GRCm39)	L287M	probably damaging	Het
Tmc2	A	G	2: 130,105,932 (GRCm39)	H821R	probably benign	Het
Tmem230	G	T	2: 132,087,897 (GRCm39)	D26E	probably benign	Het
Tnfaip3	A	G	10: 18,880,885 (GRCm39)	F394S	probably damaging	Het
Ttn	T	A	2: 76,641,721 (GRCm39)	L13458F	probably damaging	Het
Vwa5a	A	T	9: 38,634,675 (GRCm39)	N161I	probably benign	Het
Wdr87-ps	C	A	7: 29,236,888 (GRCm39)		noncoding transcript	Het

Other mutations in Cux1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Cux1	APN	5	136,355,650 (GRCm39)	missense	probably damaging	1.00
IGL01129:Cux1	APN	5	136,333,572 (GRCm39)	intron	probably benign
IGL01885:Cux1	APN	5	136,337,301 (GRCm39)	missense	possibly damaging	0.90
IGL01947:Cux1	APN	5	136,303,979 (GRCm39)	missense	probably benign	0.04
IGL02259:Cux1	APN	5	136,355,687 (GRCm39)	missense	probably damaging	1.00
IGL02666:Cux1	APN	5	136,304,169 (GRCm39)	nonsense	probably null
IGL02826:Cux1	APN	5	136,336,857 (GRCm39)	missense	probably damaging	1.00
IGL03014:Cux1	UTSW	5	136,594,379 (GRCm39)	intron	probably benign
R0047:Cux1	UTSW	5	136,392,107 (GRCm39)	splice site	probably benign
R0047:Cux1	UTSW	5	136,392,107 (GRCm39)	splice site	probably benign
R0057:Cux1	UTSW	5	136,285,136 (GRCm39)	missense	probably damaging	1.00
R0149:Cux1	UTSW	5	136,308,351 (GRCm39)	missense	probably damaging	1.00
R0295:Cux1	UTSW	5	136,342,066 (GRCm39)	missense	probably benign	0.04
R0361:Cux1	UTSW	5	136,308,351 (GRCm39)	missense	probably damaging	1.00
R0533:Cux1	UTSW	5	136,336,713 (GRCm39)	missense	probably damaging	1.00
R0630:Cux1	UTSW	5	136,315,689 (GRCm39)	missense	probably damaging	1.00
R0801:Cux1	UTSW	5	136,355,783 (GRCm39)	missense	probably damaging	0.97
R0884:Cux1	UTSW	5	136,336,689 (GRCm39)	missense	probably damaging	1.00
R0976:Cux1	UTSW	5	136,342,144 (GRCm39)	missense	probably damaging	1.00
R1073:Cux1	UTSW	5	136,281,395 (GRCm39)	critical splice donor site	probably null
R1222:Cux1	UTSW	5	136,304,003 (GRCm39)	missense	probably benign	0.18
R1518:Cux1	UTSW	5	136,337,133 (GRCm39)	missense	probably benign	0.29
R1686:Cux1	UTSW	5	136,304,235 (GRCm39)	nonsense	probably null
R1687:Cux1	UTSW	5	136,341,523 (GRCm39)	missense	probably damaging	1.00
R1758:Cux1	UTSW	5	136,421,176 (GRCm39)	missense	probably damaging	1.00
R1797:Cux1	UTSW	5	136,304,169 (GRCm39)	missense	probably benign	0.22
R1919:Cux1	UTSW	5	136,392,173 (GRCm39)	nonsense	probably null
R2051:Cux1	UTSW	5	136,361,512 (GRCm39)	missense	probably damaging	1.00
R2339:Cux1	UTSW	5	136,315,862 (GRCm39)	missense	probably damaging	1.00
R3438:Cux1	UTSW	5	136,340,414 (GRCm39)	missense	probably damaging	0.97
R3713:Cux1	UTSW	5	136,594,397 (GRCm39)	intron	probably benign
R3800:Cux1	UTSW	5	136,344,887 (GRCm39)	missense	probably damaging	1.00
R3964:Cux1	UTSW	5	136,311,796 (GRCm39)	missense	probably damaging	1.00
R4135:Cux1	UTSW	5	136,336,750 (GRCm39)	missense	probably damaging	1.00
R4198:Cux1	UTSW	5	136,315,702 (GRCm39)	missense	probably damaging	1.00
R4467:Cux1	UTSW	5	136,341,576 (GRCm39)	missense	probably damaging	1.00
R4498:Cux1	UTSW	5	136,341,847 (GRCm39)	missense	probably damaging	1.00
R4622:Cux1	UTSW	5	136,337,154 (GRCm39)	missense	probably damaging	0.99
R4623:Cux1	UTSW	5	136,337,154 (GRCm39)	missense	probably damaging	0.99
R4651:Cux1	UTSW	5	136,596,083 (GRCm39)	missense	probably damaging	1.00
R4652:Cux1	UTSW	5	136,596,083 (GRCm39)	missense	probably damaging	1.00
R4658:Cux1	UTSW	5	136,279,448 (GRCm39)	missense	possibly damaging	0.80
R4665:Cux1	UTSW	5	136,315,653 (GRCm39)	missense	probably damaging	1.00
R4704:Cux1	UTSW	5	136,278,055 (GRCm39)	missense	probably benign	0.01
R4867:Cux1	UTSW	5	136,303,815 (GRCm39)	intron	probably benign
R4965:Cux1	UTSW	5	136,340,410 (GRCm39)	missense	possibly damaging	0.77
R5090:Cux1	UTSW	5	136,342,054 (GRCm39)	missense	possibly damaging	0.95
R5155:Cux1	UTSW	5	136,594,295 (GRCm39)	intron	probably benign
R5226:Cux1	UTSW	5	136,399,027 (GRCm39)	missense	probably benign	0.01
R5252:Cux1	UTSW	5	136,337,151 (GRCm39)	missense	probably damaging	0.98
R5266:Cux1	UTSW	5	136,341,548 (GRCm39)	missense	probably damaging	1.00
R5399:Cux1	UTSW	5	136,281,458 (GRCm39)	missense	possibly damaging	0.58
R5509:Cux1	UTSW	5	136,304,171 (GRCm39)	missense	probably benign	0.13
R5609:Cux1	UTSW	5	136,421,174 (GRCm39)	missense	probably damaging	1.00
R5681:Cux1	UTSW	5	136,337,038 (GRCm39)	missense	probably damaging	1.00
R5993:Cux1	UTSW	5	136,392,125 (GRCm39)	missense	probably benign	0.00
R6049:Cux1	UTSW	5	136,361,564 (GRCm39)	missense	probably damaging	1.00
R6290:Cux1	UTSW	5	136,340,412 (GRCm39)	missense	probably damaging	0.99
R6310:Cux1	UTSW	5	136,304,018 (GRCm39)	missense	probably benign	0.10
R6351:Cux1	UTSW	5	136,338,646 (GRCm39)	missense	probably damaging	1.00
R6531:Cux1	UTSW	5	136,303,973 (GRCm39)	missense	probably benign	0.03
R6590:Cux1	UTSW	5	136,368,971 (GRCm39)	missense	probably damaging	0.99
R6663:Cux1	UTSW	5	136,514,701 (GRCm39)	missense	probably damaging	1.00
R6690:Cux1	UTSW	5	136,368,971 (GRCm39)	missense	probably damaging	0.99
R6777:Cux1	UTSW	5	136,594,422 (GRCm39)	intron	probably benign
R6786:Cux1	UTSW	5	136,596,085 (GRCm39)	missense	probably damaging	1.00
R6817:Cux1	UTSW	5	136,402,027 (GRCm39)	splice site	probably null
R6989:Cux1	UTSW	5	136,308,502 (GRCm39)	nonsense	probably null
R7011:Cux1	UTSW	5	136,388,887 (GRCm39)	missense	probably damaging	1.00
R7167:Cux1	UTSW	5	136,338,895 (GRCm39)	splice site	probably null
R7699:Cux1	UTSW	5	136,514,593 (GRCm39)	critical splice donor site	probably null
R7861:Cux1	UTSW	5	136,281,458 (GRCm39)	missense	possibly damaging	0.58
R7876:Cux1	UTSW	5	136,392,161 (GRCm39)	missense	probably benign	0.00
R7916:Cux1	UTSW	5	136,311,815 (GRCm39)	missense	probably damaging	1.00
R8023:Cux1	UTSW	5	136,402,251 (GRCm39)	missense	probably damaging	0.99
R8154:Cux1	UTSW	5	136,281,434 (GRCm39)	missense	probably damaging	1.00
R8267:Cux1	UTSW	5	136,311,853 (GRCm39)	missense	probably damaging	1.00
R8289:Cux1	UTSW	5	136,337,358 (GRCm39)	missense	probably damaging	0.99
R8305:Cux1	UTSW	5	136,388,863 (GRCm39)	missense	probably benign	0.02
R8319:Cux1	UTSW	5	136,594,251 (GRCm39)	missense	probably benign	0.02
R8405:Cux1	UTSW	5	136,304,241 (GRCm39)	missense	possibly damaging	0.83
R8483:Cux1	UTSW	5	136,303,944 (GRCm39)	missense	possibly damaging	0.83
R8506:Cux1	UTSW	5	136,337,358 (GRCm39)	missense	probably damaging	0.99
R8671:Cux1	UTSW	5	136,279,454 (GRCm39)	missense	probably damaging	1.00
R8680:Cux1	UTSW	5	136,336,710 (GRCm39)	missense	possibly damaging	0.46
R8737:Cux1	UTSW	5	136,311,796 (GRCm39)	missense	probably damaging	1.00
R8738:Cux1	UTSW	5	136,402,220 (GRCm39)	missense	probably damaging	1.00
R8793:Cux1	UTSW	5	136,594,539 (GRCm39)	missense	unknown
R8897:Cux1	UTSW	5	136,315,623 (GRCm39)	missense	probably damaging	1.00
R8926:Cux1	UTSW	5	136,338,404 (GRCm39)	intron	probably benign
R8954:Cux1	UTSW	5	136,402,203 (GRCm39)	nonsense	probably null
R9092:Cux1	UTSW	5	136,514,671 (GRCm39)	missense	probably damaging	1.00
R9205:Cux1	UTSW	5	136,398,989 (GRCm39)	missense	probably damaging	1.00
R9550:Cux1	UTSW	5	136,340,387 (GRCm39)	missense	probably damaging	0.99
R9578:Cux1	UTSW	5	136,282,919 (GRCm39)	critical splice donor site	probably null
R9682:Cux1	UTSW	5	136,337,116 (GRCm39)	missense	probably benign
R9701:Cux1	UTSW	5	136,343,169 (GRCm39)	missense	probably damaging	0.97
R9712:Cux1	UTSW	5	136,338,673 (GRCm39)	missense	probably benign	0.35

Posted On

2013-04-17