Mutagenetix > Incidental Mutation

Incidental Mutation 'R8793:Cux1'

671044

Institutional Source

Beutler Lab

Gene Symbol

Cux1

Ensembl Gene

ENSMUSG00000029705

Gene Name

cut-like homeobox 1

Synonyms

CDP, Cutl1, Cux, Cux-1

MMRRC Submission

068610-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.892) question?

Stock #

R8793 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

136276989-136596344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 136594539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 5 (S5P)

Ref Sequence

ENSEMBL: ENSMUSP00000135892 (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

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: 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

unknown
Transcript: ENSMUST00000176778
AA Change: S5P

SMART Domains

Protein: ENSMUSP00000135892
Gene: ENSMUSG00000029705
AA Change: S5P

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: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

100% (38/38)

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: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadac	A	C	3: 59,945,804 (GRCm39)	D158A	probably damaging	Het
Acot7	G	A	4: 152,284,380 (GRCm39)	V17I	probably benign	Het
Akap13	A	G	7: 75,375,076 (GRCm39)	T184A	probably benign	Het
Ankrd31	T	A	13: 96,968,221 (GRCm39)	D619E	probably damaging	Het
Arap3	A	G	18: 38,107,492 (GRCm39)	F1342L	probably benign	Het
Arfgef1	G	C	1: 10,212,832 (GRCm39)	N1696K	possibly damaging	Het
Asap2	A	G	12: 21,218,212 (GRCm39)	D45G	probably damaging	Het
Atp8b4	T	A	2: 126,231,254 (GRCm39)	M456L	probably benign	Het
Bag5	A	T	12: 111,677,355 (GRCm39)	I156N	possibly damaging	Het
Banp	T	A	8: 122,750,743 (GRCm39)	V478E	probably benign	Het
BC024063	A	T	10: 81,945,352 (GRCm39)	H324L	probably benign	Het
Bms1	T	A	6: 118,360,784 (GRCm39)	K1228M	probably damaging	Het
Btaf1	A	G	19: 36,958,429 (GRCm39)	K649E	probably benign	Het
Cpox	C	A	16: 58,493,708 (GRCm39)	P226Q	probably damaging	Het
Dock2	G	T	11: 34,451,215 (GRCm39)	Q837K	probably benign	Het
Fam171a1	T	C	2: 3,187,535 (GRCm39)	I134T	probably damaging	Het
Gm2832	A	G	14: 41,003,726 (GRCm39)	T186A		Het
Gm8246	T	C	14: 16,984,554 (GRCm39)	E93G	probably damaging	Het
Grid2ip	C	T	5: 143,363,396 (GRCm39)	T463M	probably damaging	Het
Mael	G	A	1: 166,029,257 (GRCm39)	R389C	probably benign	Het
Myo9a	C	A	9: 59,791,850 (GRCm39)	Q1818K	probably benign	Het
Nwd1	A	G	8: 73,419,704 (GRCm39)	D963G	probably benign	Het
Or13c3	A	G	4: 52,856,490 (GRCm39)	F8L	probably benign	Het
Or2g1	T	C	17: 38,107,255 (GRCm39)	S307P	probably benign	Het
Pappa2	A	T	1: 158,678,731 (GRCm39)	V895E	probably damaging	Het
Pcna	T	C	2: 132,093,193 (GRCm39)	T185A	probably benign	Het
Pip4k2c	A	G	10: 127,042,530 (GRCm39)	F108L	probably damaging	Het
Pole	T	A	5: 110,445,614 (GRCm39)	S497T	probably damaging	Het
Potefam3b	G	A	8: 21,159,053 (GRCm39)	V136I	probably benign	Het
Ppp1r12c	A	G	7: 4,485,887 (GRCm39)	V653A	probably benign	Het
Pramel27	A	G	4: 143,577,627 (GRCm39)		probably benign	Het
Ryr1	A	T	7: 28,764,284 (GRCm39)	V3072E	probably damaging	Het
Sh3bgr	G	A	16: 96,025,792 (GRCm39)		probably null	Het
Slc27a5	A	C	7: 12,723,296 (GRCm39)	L550R	probably benign	Het
Strip2	C	T	6: 29,956,815 (GRCm39)	P815S	probably benign	Het
Tars3	G	T	7: 65,294,673 (GRCm39)		probably benign	Het
Tle5	T	C	10: 81,397,152 (GRCm39)		probably null	Het
Tmem237	G	T	1: 59,146,613 (GRCm39)	L337M	probably damaging	Het
Ttn	T	C	2: 76,555,506 (GRCm39)	M30500V	probably benign	Het
Ube2u	T	C	4: 100,336,416 (GRCm39)	F13S	probably damaging	Het
Ugcg	A	C	4: 59,207,794 (GRCm39)	K44N	probably benign	Het
Vmn2r39	A	T	7: 9,028,149 (GRCm39)	H407Q	probably 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
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
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'- CAGAATAGCATCCTCTGGGC -3'
(R):5'- AAGGCTGCAACTTTCCACCG -3'

Sequencing Primer
(F):5'- ATCCTCTGGGCACGCAG -3'
(R):5'- ACTTTCCACCGAGCGCAG -3'

Posted On

2021-04-30