Mutagenetix > Incidental Mutations

Incidental Mutation 'R4658:Cux1'

352589

Institutional Source

Beutler Lab

Gene Symbol

Cux1

Ensembl Gene

ENSMUSG00000029705

Gene Name

cut-like homeobox 1

Synonyms

Cux-1, Cutl1, CDP, Cux

MMRRC Submission

041918-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.923) question?

Stock #

R4658 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

136248135-136567490 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136250594 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 405 (I405T)

Ref Sequence

ENSEMBL: ENSMUSP00000135816 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000175918] [ENSMUST00000175998] [ENSMUST00000176216] [ENSMUST00000176745] [ENSMUST00000177297] [ENSMUST00000196245]

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

possibly damaging
Transcript: ENSMUST00000175998
AA Change: I405T

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000135816
Gene: ENSMUSG00000029705
AA Change: I405T

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: ENSMUST00000176216
AA Change: I611T

PolyPhen 2 Score 0.342 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000135054
Gene: ENSMUSG00000029705
AA Change: I611T

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: ENSMUST00000176745
AA Change: I609T

PolyPhen 2 Score 0.070 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000135512
Gene: ENSMUSG00000029705
AA Change: I609T

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: 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: ENSMUST00000196245

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

99% (88/89)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	T	5: 114,200,564	R778S	probably damaging	Het
Adam17	A	G	12: 21,332,160	C567R	probably damaging	Het
Ankrd28	G	A	14: 31,710,868	A758V	probably damaging	Het
Atrn	T	C	2: 130,933,429	Y151H	probably damaging	Het
B3gat3	A	G	19: 8,925,632	T118A	possibly damaging	Het
Camta1	A	G	4: 151,143,910	C822R	probably damaging	Het
Capn15	G	T	17: 25,960,768	Q807K	probably benign	Het
Clec12a	T	C	6: 129,354,530	Y145H	probably damaging	Het
Clk1	T	C	1: 58,412,987	I393V	probably benign	Het
Cpm	A	G	10: 117,668,051	I121V	probably benign	Het
Dnah3	A	G	7: 119,950,651	S3471P	probably damaging	Het
Dok6	A	G	18: 89,473,847		probably benign	Het
Eif4g1	A	T	16: 20,685,934	D1124V	possibly damaging	Het
Eif4g3	A	G	4: 138,206,132	E1756G	probably damaging	Het
Exo5	A	G	4: 120,922,551	V39A	probably benign	Het
Fmnl1	A	T	11: 103,197,694	I90F	probably damaging	Het
Fryl	G	T	5: 73,081,053	T1450K	probably damaging	Het
Gde1	T	C	7: 118,694,528	M91V	probably benign	Het
Gimd1	T	C	3: 132,644,582	I84T	probably damaging	Het
Gm13889	C	T	2: 93,957,108		probably benign	Het
Gm6445	T	A	19: 9,608,197		noncoding transcript	Het
Gm8113	T	C	14: 43,932,410	S483P	probably damaging	Het
Grik2	T	C	10: 49,523,792	I281V	possibly damaging	Het
Grik5	T	C	7: 25,060,727		probably benign	Het
Herc1	A	T	9: 66,479,491	I3796F	possibly damaging	Het
Hoxb13	A	T	11: 96,194,483	D14V	probably benign	Het
Hspg2	A	G	4: 137,533,730	Y1645C	probably damaging	Het
Igkv8-16	G	T	6: 70,386,778	R87S	probably damaging	Het
Ints1	A	T	5: 139,774,299	V140E	possibly damaging	Het
Kbtbd11	C	A	8: 15,028,917	D505E	possibly damaging	Het
Kcnu1	G	A	8: 25,937,555	C300Y	probably damaging	Het
Kmt2d	G	C	15: 98,852,529		probably benign	Het
Lats1	T	C	10: 7,702,729	V539A	probably benign	Het
Lipo5	C	T	19: 33,464,522	G200D	unknown	Het
Lmo7	C	A	14: 101,886,957	A284D	probably damaging	Het
Lyst	G	A	13: 13,635,383	R546H	probably damaging	Het
Mcpt8	T	C	14: 56,083,828	M60V	possibly damaging	Het
Mdn1	A	G	4: 32,730,749		probably null	Het
Mphosph10	A	G	7: 64,388,974		probably null	Het
Muc5b	G	A	7: 141,841,398	S47N	unknown	Het
Notch3	A	T	17: 32,154,763	N490K	probably damaging	Het
Nr1d1	G	A	11: 98,771,912	S85L	possibly damaging	Het
Obscn	T	A	11: 59,054,288	R4635*	probably null	Het
Olfr121	G	T	17: 37,752,163	C103F	probably damaging	Het
Olfr1504	T	C	19: 13,887,548	I221V	probably benign	Het
Olfr275	T	C	4: 52,826,240	L281P	probably damaging	Het
Pappa	G	A	4: 65,314,796		probably null	Het
Pcdhb17	G	A	18: 37,486,599	G481S	probably damaging	Het
Pde1a	TCC	TC	2: 79,898,181		probably benign	Het
Phf3	A	T	1: 30,863,088	M48K	probably damaging	Het
Pira2	A	T	7: 3,840,934	V613E	probably damaging	Het
Poc1a	T	C	9: 106,349,688	S327P	possibly damaging	Het
Ptpn9	A	G	9: 57,020,037	H66R	probably benign	Het
Rabgap1	C	T	2: 37,487,549	R353*	probably null	Het
Rcc1l	G	T	5: 134,171,890	N134K	probably damaging	Het
Rims1	G	A	1: 22,427,543	T787I	probably damaging	Het
Rreb1	T	G	13: 37,948,801	S1651A	probably damaging	Het
Rsl1d1	T	C	16: 11,201,374	D100G	probably damaging	Het
Samd4	C	T	14: 47,064,246	R147C	probably damaging	Het
Serpinb6e	T	C	13: 33,841,316		probably benign	Het
Ska1	T	C	18: 74,197,040	I210V	probably benign	Het
Slc17a1	A	G	13: 23,878,560	I237V	probably benign	Het
Slc22a4	A	T	11: 53,997,510	S231T	probably benign	Het
Slc7a4	T	A	16: 17,575,933	M66L	probably damaging	Het
Snapc1	A	G	12: 73,983,868	T381A	possibly damaging	Het
St6galnac2	C	T	11: 116,684,525		probably benign	Het
Taar2	C	T	10: 23,941,503	L314F	probably benign	Het
Tmem74b	A	G	2: 151,706,641	D96G	probably damaging	Het
Tnfrsf17	T	C	16: 11,313,969	F6S	probably benign	Het
Tpp2	G	T	1: 43,954,710	G252W	probably damaging	Het
Trf	A	G	9: 103,223,608	F209L	probably damaging	Het
Ttn	T	C	2: 76,898,591		probably benign	Het
Uhmk1	A	T	1: 170,207,205	H311Q	probably damaging	Het
Unc13c	G	T	9: 73,932,826	Q248K	probably damaging	Het
Uqcrc2	A	G	7: 120,650,921	Y253C	probably damaging	Het
Vmn2r117	A	G	17: 23,478,416	F101L	probably benign	Het
Vmn2r43	T	C	7: 8,255,071	N381S	probably benign	Het
Zfp879	T	A	11: 50,833,197	Y271F	probably damaging	Het

Other mutations in Cux1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00846:Cux1	APN	5	136326796	missense	probably damaging	1.00
IGL00966:Cux1	APN	5	136311491	intron	probably benign
IGL01129:Cux1	APN	5	136304718	intron	probably benign
IGL01885:Cux1	APN	5	136308447	missense	possibly damaging	0.90
IGL01947:Cux1	APN	5	136275125	missense	probably benign	0.04
IGL02259:Cux1	APN	5	136326833	missense	probably damaging	1.00
IGL02666:Cux1	APN	5	136275315	nonsense	probably null
IGL02826:Cux1	APN	5	136308003	missense	probably damaging	1.00
IGL03014:Cux1	UTSW	5	136565525	intron	probably benign
R0047:Cux1	UTSW	5	136363253	splice site	probably benign
R0047:Cux1	UTSW	5	136363253	splice site	probably benign
R0057:Cux1	UTSW	5	136256282	missense	probably damaging	1.00
R0149:Cux1	UTSW	5	136279497	missense	probably damaging	1.00
R0295:Cux1	UTSW	5	136313212	missense	probably benign	0.04
R0361:Cux1	UTSW	5	136279497	missense	probably damaging	1.00
R0533:Cux1	UTSW	5	136307859	missense	probably damaging	1.00
R0630:Cux1	UTSW	5	136286835	missense	probably damaging	1.00
R0801:Cux1	UTSW	5	136326929	missense	probably damaging	0.97
R0884:Cux1	UTSW	5	136307835	missense	probably damaging	1.00
R0976:Cux1	UTSW	5	136313290	missense	probably damaging	1.00
R1073:Cux1	UTSW	5	136252541	critical splice donor site	probably null
R1222:Cux1	UTSW	5	136275149	missense	probably benign	0.18
R1518:Cux1	UTSW	5	136308279	missense	probably benign	0.29
R1686:Cux1	UTSW	5	136275381	nonsense	probably null
R1687:Cux1	UTSW	5	136312669	missense	probably damaging	1.00
R1758:Cux1	UTSW	5	136392322	missense	probably damaging	1.00
R1797:Cux1	UTSW	5	136275315	missense	probably benign	0.22
R1919:Cux1	UTSW	5	136363319	nonsense	probably null
R2051:Cux1	UTSW	5	136332658	missense	probably damaging	1.00
R2339:Cux1	UTSW	5	136287008	missense	probably damaging	1.00
R3438:Cux1	UTSW	5	136311560	missense	probably damaging	0.97
R3713:Cux1	UTSW	5	136565543	intron	probably benign
R3800:Cux1	UTSW	5	136316033	missense	probably damaging	1.00
R3964:Cux1	UTSW	5	136282942	missense	probably damaging	1.00
R4135:Cux1	UTSW	5	136307896	missense	probably damaging	1.00
R4198:Cux1	UTSW	5	136286848	missense	probably damaging	1.00
R4467:Cux1	UTSW	5	136312722	missense	probably damaging	1.00
R4498:Cux1	UTSW	5	136312993	missense	probably damaging	1.00
R4622:Cux1	UTSW	5	136308300	missense	probably damaging	0.99
R4623:Cux1	UTSW	5	136308300	missense	probably damaging	0.99
R4651:Cux1	UTSW	5	136567229	missense	probably damaging	1.00
R4652:Cux1	UTSW	5	136567229	missense	probably damaging	1.00
R4665:Cux1	UTSW	5	136286799	missense	probably damaging	1.00
R4704:Cux1	UTSW	5	136249201	missense	probably benign	0.01
R4867:Cux1	UTSW	5	136274961	intron	probably benign
R4965:Cux1	UTSW	5	136311556	missense	possibly damaging	0.77
R5090:Cux1	UTSW	5	136313200	missense	possibly damaging	0.95
R5155:Cux1	UTSW	5	136565441	intron	probably benign
R5226:Cux1	UTSW	5	136370173	missense	probably benign	0.01
R5252:Cux1	UTSW	5	136308297	missense	probably damaging	0.98
R5266:Cux1	UTSW	5	136312694	missense	probably damaging	1.00
R5399:Cux1	UTSW	5	136252604	missense	possibly damaging	0.58
R5509:Cux1	UTSW	5	136275317	missense	probably benign	0.13
R5609:Cux1	UTSW	5	136392320	missense	probably damaging	1.00
R5681:Cux1	UTSW	5	136308184	missense	probably damaging	1.00
R5993:Cux1	UTSW	5	136363271	missense	probably benign	0.00
R6049:Cux1	UTSW	5	136332710	missense	probably damaging	1.00
R6290:Cux1	UTSW	5	136311558	missense	probably damaging	0.99
R6310:Cux1	UTSW	5	136275164	missense	probably benign	0.10
R6351:Cux1	UTSW	5	136309792	missense	probably damaging	1.00
R6531:Cux1	UTSW	5	136275119	missense	probably benign	0.03
R6590:Cux1	UTSW	5	136340117	missense	probably damaging	0.99
R6663:Cux1	UTSW	5	136485847	missense	probably damaging	1.00
R6690:Cux1	UTSW	5	136340117	missense	probably damaging	0.99
R6777:Cux1	UTSW	5	136565568	intron	probably benign
R6786:Cux1	UTSW	5	136567231	missense	probably damaging	1.00
R6817:Cux1	UTSW	5	136373173	intron	probably null
R6989:Cux1	UTSW	5	136279648	nonsense	probably null
R7011:Cux1	UTSW	5	136360033	missense	probably damaging	1.00
R7167:Cux1	UTSW	5	136310041	intron	probably null

Predicted Primers

PCR Primer
(F):5'- TTGAAGTCCTCAGCCTTGGG -3'
(R):5'- GTGTACATGCATGCACCCAAAG -3'

Sequencing Primer
(F):5'- AGCCAGCGCTGAGGACATG -3'
(R):5'- AAAGAACTCACCTTTGCCGTCTG -3'

Posted On

2015-10-08