Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02666:Cux1'

302747

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 #

IGL02666

Quality Score

Status

Chromosome

Chromosomal Location

136276989-136596344 bp(-) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 136304169 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 1336 (E1336*)

Ref Sequence

ENSEMBL: ENSMUSP00000135892 (fasta)

Gene Model

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

AlphaFold

no structure available at present

Predicted Effect

probably null
Transcript: ENSMUST00000004097
AA Change: E1253*

SMART Domains

Protein: ENSMUSP00000004097
Gene: ENSMUSG00000029705
AA Change: E1253*

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

noncoding transcript
Transcript: ENSMUST00000163906

SMART Domains

Protein: ENSMUSP00000131685
Gene: ENSMUSG00000029705

Domain	Start	End	E-Value	Type
low complexity region	24	45	N/A	INTRINSIC
CUT	58	144	2.9e-42	SMART
HOX	184	246	3.3e-17	SMART
low complexity region	258	273	N/A	INTRINSIC
low complexity region	351	413	N/A	INTRINSIC

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 null
Transcript: ENSMUST00000175975
AA Change: E1331*

SMART Domains

Protein: ENSMUSP00000135223
Gene: ENSMUSG00000029705
AA Change: E1331*

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 null
Transcript: ENSMUST00000176172
AA Change: E1344*

SMART Domains

Protein: ENSMUSP00000135086
Gene: ENSMUSG00000029705
AA Change: E1344*

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 null
Transcript: ENSMUST00000176486
AA Change: E1215*

SMART Domains

Protein: ENSMUSP00000135370
Gene: ENSMUSG00000029705
AA Change: E1215*

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 null
Transcript: ENSMUST00000176778
AA Change: E1336*

SMART Domains

Protein: ENSMUSP00000135892
Gene: ENSMUSG00000029705
AA Change: E1336*

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: 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

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: 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

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9230109A22Rik	T	C	15: 25,138,944 (GRCm39)		noncoding transcript	Het
Abca15	G	A	7: 119,934,431 (GRCm39)	V136M	probably damaging	Het
Abhd3	A	G	18: 10,645,148 (GRCm39)	I382T	probably benign	Het
Cyb5r3	T	C	15: 83,044,554 (GRCm39)	I155V	probably damaging	Het
Ddx24	T	C	12: 103,390,314 (GRCm39)	T226A	possibly damaging	Het
Dld	T	C	12: 31,382,408 (GRCm39)	N465S	probably null	Het
Dnmbp	A	G	19: 43,842,566 (GRCm39)		probably benign	Het
Dock9	T	C	14: 121,818,111 (GRCm39)	H1580R	probably benign	Het
Drd3	C	A	16: 43,637,319 (GRCm39)		probably benign	Het
Gabrb2	G	T	11: 42,420,322 (GRCm39)		probably null	Het
Gbp9	T	C	5: 105,242,141 (GRCm39)		probably null	Het
Inhba	A	T	13: 16,201,664 (GRCm39)	I409F	possibly damaging	Het
Iqgap2	T	C	13: 95,764,564 (GRCm39)	N1560S	probably damaging	Het
Itsn1	A	G	16: 91,617,606 (GRCm39)		probably benign	Het
Kat6b	T	C	14: 21,678,938 (GRCm39)	F434L	probably damaging	Het
Klra1	A	G	6: 130,341,278 (GRCm39)	C232R	probably damaging	Het
Krt18	T	A	15: 101,938,302 (GRCm39)	I175N	probably damaging	Het
Lck	A	G	4: 129,450,212 (GRCm39)	V178A	probably damaging	Het
Mroh4	C	A	15: 74,481,624 (GRCm39)	G737V	probably benign	Het
Mug2	A	C	6: 122,058,285 (GRCm39)	L1282F	probably damaging	Het
Myo9a	A	G	9: 59,832,187 (GRCm39)	N2572S	probably benign	Het
Nup88	G	T	11: 70,834,695 (GRCm39)		probably benign	Het
Nxph3	G	T	11: 95,401,834 (GRCm39)	H193Q	possibly damaging	Het
Or5b97	G	T	19: 12,878,221 (GRCm39)	H308N	probably benign	Het
Orm2	A	G	4: 63,283,970 (GRCm39)	T198A	possibly damaging	Het
Pom121	T	C	5: 135,415,686 (GRCm39)	I397V	unknown	Het
Prex1	C	A	2: 166,414,909 (GRCm39)	E1313D	probably benign	Het
Prkg2	T	A	5: 99,145,378 (GRCm39)		probably benign	Het
Prl2a1	A	T	13: 27,990,310 (GRCm39)	K86N	possibly damaging	Het
Ptpro	G	A	6: 137,355,057 (GRCm39)	S188N	probably damaging	Het
Ptprz1	A	T	6: 23,001,209 (GRCm39)	I1100F	probably benign	Het
Ryr1	C	A	7: 28,719,188 (GRCm39)	M4406I	unknown	Het
Sdf4	T	A	4: 156,093,281 (GRCm39)	Y204*	probably null	Het
Serinc1	A	T	10: 57,400,089 (GRCm39)		probably null	Het
Slc39a5	C	T	10: 128,234,324 (GRCm39)	R193H	probably damaging	Het
Smad9	A	G	3: 54,689,888 (GRCm39)	K36R	probably damaging	Het
Spam1	T	A	6: 24,796,123 (GRCm39)	L25I	possibly damaging	Het
Stab2	A	T	10: 86,686,766 (GRCm39)	S809R	possibly damaging	Het
Szt2	G	A	4: 118,231,252 (GRCm39)	R35C	probably damaging	Het
Tcaf2	C	A	6: 42,606,058 (GRCm39)		probably benign	Het
Tfap2d	A	C	1: 19,174,979 (GRCm39)	D144A	probably benign	Het
Tmprss11d	A	T	5: 86,479,052 (GRCm39)	V117D	probably damaging	Het
Tnxb	A	G	17: 34,903,913 (GRCm39)	D1141G	probably benign	Het
Traf6	A	T	2: 101,527,512 (GRCm39)	T421S	possibly damaging	Het
Txndc16	G	A	14: 45,448,607 (GRCm39)		probably benign	Het
Utp25	G	A	1: 192,789,904 (GRCm39)	Q752*	probably null	Het
Vmn1r73	C	A	7: 11,490,865 (GRCm39)	P228T	probably damaging	Het
Vmn2r4	A	G	3: 64,296,433 (GRCm39)	I784T	probably benign	Het
Zfp420	A	G	7: 29,573,795 (GRCm39)	D5G	probably benign	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
IGL00966:Cux1	APN	5	136,340,345 (GRCm39)	intron	probably benign
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
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

2015-04-16