Mutagenetix > Incidental Mutation

Incidental Mutation 'R8319:Cux1'

641848

Institutional Source

Beutler Lab

Gene Symbol

Cux1

Ensembl Gene

ENSMUSG00000029705

Gene Name

cut-like homeobox 1

Synonyms

CDP, Cutl1, Cux, Cux-1

MMRRC Submission

067856-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R8319 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

136276989-136596344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 136594251 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 5 (A5T)

Ref Sequence

ENSEMBL: ENSMUSP00000135086 (fasta)

Gene Model

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

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

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: ENSMUST00000176172
AA Change: A5T

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135086
Gene: ENSMUSG00000029705
AA Change: A5T

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: 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: ENSMUST00000176778
AA Change: A101T

PolyPhen 2 Score 0.029 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135892
Gene: ENSMUSG00000029705
AA Change: A101T

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: 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

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921517D22Rik	A	T	13: 59,838,486 (GRCm39)	D115E	probably benign	Het
Abcc1	T	A	16: 14,214,315 (GRCm39)	L197Q	probably damaging	Het
Adamts14	T	G	10: 61,057,706 (GRCm39)	N547T	probably benign	Het
Ampd3	T	A	7: 110,394,982 (GRCm39)	S301R	probably benign	Het
Atg9a	G	A	1: 75,162,342 (GRCm39)	Q523*	probably null	Het
Atl1	A	T	12: 70,002,093 (GRCm39)	T351S	probably damaging	Het
Bhlhe40	TG	TGG	6: 108,641,818 (GRCm39)	254	probably null	Het
Cacna1c	T	C	6: 118,614,735 (GRCm39)	I1315V		Het
Col12a1	C	T	9: 79,555,979 (GRCm39)	G2013R	probably damaging	Het
Cpne2	A	G	8: 95,280,040 (GRCm39)	D153G	probably benign	Het
Cryzl1	T	C	16: 91,489,251 (GRCm39)	S205G	probably benign	Het
Ddx60	T	C	8: 62,395,669 (GRCm39)		probably null	Het
Dnajc13	G	A	9: 104,067,590 (GRCm39)	P1190S	probably benign	Het
Fbxw7	T	A	3: 84,881,859 (GRCm39)	V526E		Het
Fig4	C	A	10: 41,139,097 (GRCm39)	G369C	probably damaging	Het
Gabra1	C	T	11: 42,026,315 (GRCm39)	A326T	probably damaging	Het
Gbe1	G	A	16: 70,284,964 (GRCm39)	G429S	probably benign	Het
Gtf3c5	A	T	2: 28,460,506 (GRCm39)	H364Q	probably benign	Het
Hcfc2	T	A	10: 82,574,201 (GRCm39)	I125N	probably damaging	Het
Hnrnpul1	A	T	7: 25,453,902 (GRCm39)	D53E	probably benign	Het
Ift56	T	A	6: 38,382,880 (GRCm39)	H338Q	probably damaging	Het
Il18	A	T	9: 50,492,818 (GRCm39)	D128V	possibly damaging	Het
Intu	T	A	3: 40,608,202 (GRCm39)	S71R	probably damaging	Het
Klhl6	T	C	16: 19,775,940 (GRCm39)	E206G	possibly damaging	Het
Lcor	T	A	19: 41,571,343 (GRCm39)	S179T	probably damaging	Het
Mcub	A	G	3: 129,727,328 (GRCm39)	F93L	probably damaging	Het
Mdga2	T	C	12: 67,267,803 (GRCm39)	Y5C	unknown	Het
Naip1	C	A	13: 100,565,721 (GRCm39)	V354L	probably benign	Het
Naip5	A	G	13: 100,358,167 (GRCm39)	V1023A	probably benign	Het
Ndufaf1	A	G	2: 119,490,568 (GRCm39)	L166P	probably damaging	Het
Ninl	A	T	2: 150,801,827 (GRCm39)	L147H	probably damaging	Het
Or4c12	A	G	2: 89,774,024 (GRCm39)	V145A	possibly damaging	Het
Or51b17	A	G	7: 103,542,636 (GRCm39)	I102T	probably damaging	Het
Otogl	C	T	10: 107,689,127 (GRCm39)		probably null	Het
Otulin	AT	ATT	15: 27,606,404 (GRCm39)		probably null	Het
Phf11b	A	C	14: 59,576,146 (GRCm39)	L30R	probably damaging	Het
Prdm13	G	T	4: 21,679,327 (GRCm39)	H388N	unknown	Het
Pwwp2b	T	C	7: 138,835,099 (GRCm39)	V180A	probably damaging	Het
Reep4	T	A	14: 70,783,951 (GRCm39)	S23T	probably damaging	Het
Rusc2	T	A	4: 43,425,378 (GRCm39)	L1161Q	probably damaging	Het
Scgb1b3	G	A	7: 31,075,404 (GRCm39)		probably null	Het
Scn10a	G	T	9: 119,499,455 (GRCm39)	N279K	probably benign	Het
Smurf2	A	G	11: 106,715,578 (GRCm39)	L643S	probably damaging	Het
Sox12	G	A	2: 152,239,192 (GRCm39)	P143S	unknown	Het
Specc1	C	T	11: 62,009,501 (GRCm39)	T339I	possibly damaging	Het
Tas2r139	T	C	6: 42,118,720 (GRCm39)	V284A	probably benign	Het
Thumpd3	T	A	6: 113,040,107 (GRCm39)	C330*	probably null	Het
Ttn	A	G	2: 76,537,298 (GRCm39)	S34877P	possibly damaging	Het
Zfp568	T	C	7: 29,697,629 (GRCm39)	S104P	possibly damaging	Het
Zfp933	G	A	4: 147,912,910 (GRCm39)	H50Y	possibly damaging	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
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
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

Predicted Primers

PCR Primer
(F):5'- AAGCACACTTTAGAGTTGGGAGC -3'
(R):5'- ACTGATTGTGGTTCCTCGTC -3'

Sequencing Primer
(F):5'- CAAAGGCGGTTCCCTAGAG -3'
(R):5'- GCCTCGAGGGGATGGTATC -3'

Posted On

2020-07-28