Mutagenetix > Incidental Mutation

Incidental Mutation 'R6531:Cux1'

543547

Institutional Source

Beutler Lab

Gene Symbol

Cux1

Ensembl Gene

ENSMUSG00000029705

Gene Name

cut-like homeobox 1

Synonyms

CDP, Cutl1, Cux, Cux-1

MMRRC Submission

044657-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.847) question?

Stock #

R6531 (G1)

Quality Score

45.0072

Status

Validated

Chromosome

Chromosomal Location

136276989-136596344 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 136303973 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 1401 (D1401G)

Ref Sequence

ENSEMBL: ENSMUSP00000135892 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000004097] [ENSMUST00000175975] [ENSMUST00000176172] [ENSMUST00000176778]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000004097
AA Change: D1318G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000004097
Gene: ENSMUSG00000029705
AA Change: D1318G

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: ENSMUST00000175975
AA Change: D1396G

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000135223
Gene: ENSMUSG00000029705
AA Change: D1396G

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: D1409G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000135086
Gene: ENSMUSG00000029705
AA Change: D1409G

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: ENSMUST00000176778
AA Change: D1401G

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135892
Gene: ENSMUSG00000029705
AA Change: D1401G

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.2%
20x: 90.6%

Validation Efficiency

100% (46/46)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930590J08Rik	A	G	6: 91,926,980 (GRCm39)	E880G	possibly damaging	Het
Acsbg2	T	A	17: 57,153,617 (GRCm39)	I529F	probably damaging	Het
Ahcyl2	T	G	6: 29,886,161 (GRCm39)	M359R	probably benign	Het
Aldh5a1	G	T	13: 25,102,547 (GRCm39)	D305E	probably benign	Het
Catsper2	C	G	2: 121,230,261 (GRCm39)	V358L	possibly damaging	Het
Cd200r4	C	T	16: 44,653,868 (GRCm39)	Q222*	probably null	Het
Col4a2	T	A	8: 11,458,135 (GRCm39)	D270E	probably benign	Het
Cyp3a59	T	A	5: 146,035,027 (GRCm39)	M235K	probably benign	Het
Dock3	T	C	9: 106,844,415 (GRCm39)	D895G	probably benign	Het
Dync1h1	T	C	12: 110,584,354 (GRCm39)	F586L	probably damaging	Het
Elmo1	G	T	13: 20,756,616 (GRCm39)	R568L	possibly damaging	Het
Epb41	T	C	4: 131,684,947 (GRCm39)	T711A	probably benign	Het
Grm7	T	A	6: 111,335,386 (GRCm39)	M599K	probably benign	Het
Hivep3	A	T	4: 119,980,073 (GRCm39)	K1704*	probably null	Het
Ighv1-62-3	C	A	12: 115,424,626 (GRCm39)	C115F	probably damaging	Het
Krt78	A	G	15: 101,860,708 (GRCm39)	Y200H	probably benign	Het
Lamb2	A	T	9: 108,360,925 (GRCm39)	H549L	possibly damaging	Het
Mroh3	A	G	1: 136,112,091 (GRCm39)	I759T	probably benign	Het
Ncbp2	CGTCTGGATG	CG	16: 31,775,161 (GRCm39)		probably null	Het
Nol6	G	T	4: 41,118,154 (GRCm39)	P828T	probably benign	Het
Or1j15	G	A	2: 36,459,353 (GRCm39)	V248I	probably damaging	Het
Or4c3	A	G	2: 89,851,801 (GRCm39)	V203A	probably benign	Het
Or5m5	A	G	2: 85,814,651 (GRCm39)	I156V	probably benign	Het
Or8w1	A	G	2: 87,465,873 (GRCm39)	Y73H	probably damaging	Het
Ovgp1	A	C	3: 105,894,387 (GRCm39)		probably benign	Het
Pitpnm3	T	A	11: 71,962,313 (GRCm39)	Q230L	possibly damaging	Het
Pkn1	C	T	8: 84,396,922 (GRCm39)	V910I	probably benign	Het
Plcb1	T	A	2: 135,167,722 (GRCm39)		probably null	Het
Ppp1r12c	A	G	7: 4,485,788 (GRCm39)		probably null	Het
Rassf5	T	A	1: 131,172,551 (GRCm39)	Q106L	possibly damaging	Het
Rfc1	T	C	5: 65,470,322 (GRCm39)	K62E	possibly damaging	Het
Sf3b1	C	T	1: 55,058,554 (GRCm39)	E12K	probably damaging	Het
Slc4a1ap	A	T	5: 31,705,982 (GRCm39)	D691V	probably benign	Het
Speg	T	A	1: 75,399,401 (GRCm39)	F2283I	probably benign	Het
Styxl2	A	T	1: 165,937,615 (GRCm39)		probably null	Het
Synj2	A	G	17: 6,084,114 (GRCm39)	K267E	probably damaging	Het
Tg	A	T	15: 66,711,211 (GRCm39)	Y991F	probably damaging	Het
Tlk1	A	T	2: 70,572,427 (GRCm39)	D380E	probably benign	Het
Trim43b	A	T	9: 88,967,418 (GRCm39)	L405H	probably damaging	Het
Ttf2	A	G	3: 100,863,576 (GRCm39)	I586T	probably damaging	Het
Ugt2b36	T	A	5: 87,229,445 (GRCm39)	R213S	probably damaging	Het
Vmn1r198	T	A	13: 22,538,577 (GRCm39)	M21K	probably benign	Het
Wdr35	A	T	12: 9,028,685 (GRCm39)	Y101F	probably benign	Het
Zfp367	T	C	13: 64,292,064 (GRCm39)	Y189C	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
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

Predicted Primers

PCR Primer
(F):5'- TGTTCAAGTTCGCAGCCTTC -3'
(R):5'- TAGTGGCCACCAAGTCTCAG -3'

Sequencing Primer
(F):5'- TCTGCAGTGAGCTAGGCCTTC -3'
(R):5'- CAAGTCTCAGGGAGGGCTG -3'

Posted On

2019-02-27