Mutagenetix > Incidental Mutation

Incidental Mutation 'R4514:Uncx'

332789

Institutional Source

Beutler Lab

Gene Symbol

Uncx

Ensembl Gene

ENSMUSG00000029546

Gene Name

UNC homeobox

Synonyms

Chx4, Uncx4.1

MMRRC Submission

041588-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4514 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

139529620-139533934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 139532522 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Valine at position 196 (I196V)

Ref Sequence

ENSEMBL: ENSMUSP00000134067 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000172997] [ENSMUST00000174792]

AlphaFold

O08934

Predicted Effect

possibly damaging
Transcript: ENSMUST00000031523
AA Change: I196V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000031523
Gene: ENSMUSG00000029546
AA Change: I196V

Domain	Start	End	E-Value	Type
HOX	109	171	1.49e-25	SMART
coiled coil region	194	222	N/A	INTRINSIC
low complexity region	230	267	N/A	INTRINSIC
low complexity region	271	285	N/A	INTRINSIC
low complexity region	347	356	N/A	INTRINSIC
low complexity region	408	420	N/A	INTRINSIC
low complexity region	424	439	N/A	INTRINSIC
low complexity region	442	456	N/A	INTRINSIC
low complexity region	462	474	N/A	INTRINSIC
low complexity region	480	506	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172997
AA Change: I196V

PolyPhen 2 Score 0.588 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134067
Gene: ENSMUSG00000029546
AA Change: I196V

Domain	Start	End	E-Value	Type
low complexity region	8	13	N/A	INTRINSIC
low complexity region	30	47	N/A	INTRINSIC
low complexity region	110	138	N/A	INTRINSIC
low complexity region	162	178	N/A	INTRINSIC
low complexity region	184	207	N/A	INTRINSIC
low complexity region	215	233	N/A	INTRINSIC
low complexity region	239	251	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000174792

SMART Domains

Protein: ENSMUSP00000139081
Gene: ENSMUSG00000029546

Domain	Start	End	E-Value	Type
HOX	109	164	1.9e-10	SMART

Meta Mutation Damage Score

0.0809

Coding Region Coverage

1x: 99.4%
3x: 98.6%
10x: 96.9%
20x: 94.1%

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygous null mutants exhibit severe skeletal defects, including absence of pedicles, transverse processes and proximal ribs. Mutants die around birth from respiratory failure. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	T	G	8: 25,308,152 (GRCm39)	T51P	probably damaging	Het
Akr1c20	A	C	13: 4,557,843 (GRCm39)	V201G	probably damaging	Het
Alg9	C	T	9: 50,716,654 (GRCm39)	T409M	possibly damaging	Het
Arpp21	T	A	9: 112,006,745 (GRCm39)	T155S	probably damaging	Het
Atm	T	A	9: 53,404,339 (GRCm39)	Q1334L	probably damaging	Het
Bptf	G	A	11: 106,968,518 (GRCm39)	T1055M	probably damaging	Het
Cd3g	C	A	9: 44,884,882 (GRCm39)	A121S	possibly damaging	Het
Cenpn	A	G	8: 117,660,135 (GRCm39)	Y68C	probably damaging	Het
Clock	A	G	5: 76,378,046 (GRCm39)	I618T	probably benign	Het
Cp	A	G	3: 20,042,177 (GRCm39)	M982V	probably damaging	Het
Csf3r	T	A	4: 125,933,653 (GRCm39)	S611T	possibly damaging	Het
Csn3	A	G	5: 88,077,997 (GRCm39)	T168A	unknown	Het
Cylc2	C	G	4: 51,229,651 (GRCm39)	T331R	unknown	Het
D630003M21Rik	T	C	2: 158,046,722 (GRCm39)	T752A	probably benign	Het
Defb34	A	T	8: 19,176,522 (GRCm39)	D71V	probably damaging	Het
Dync1h1	T	A	12: 110,623,573 (GRCm39)	D3615E	possibly damaging	Het
Etl4	A	T	2: 20,666,709 (GRCm39)	T167S	probably damaging	Het
F5	T	A	1: 163,979,566 (GRCm39)		probably benign	Het
Got1l1	C	T	8: 27,688,513 (GRCm39)	M279I	probably benign	Het
Grm7	A	G	6: 111,335,265 (GRCm39)	T559A	possibly damaging	Het
Ifit1	A	T	19: 34,625,913 (GRCm39)	R350*	probably null	Het
Ighv2-5	T	C	12: 113,649,216 (GRCm39)	N79S	possibly damaging	Het
Igkv17-127	A	G	6: 67,838,498 (GRCm39)	I70V	possibly damaging	Het
Itga8	T	C	2: 12,187,547 (GRCm39)	S711G	probably benign	Het
Kndc1	A	G	7: 139,490,202 (GRCm39)	T235A	probably benign	Het
Lct	T	C	1: 128,228,251 (GRCm39)	I1081V	probably benign	Het
Lrrc8b	G	T	5: 105,627,819 (GRCm39)	C55F	probably damaging	Het
Lrwd1	T	C	5: 136,160,402 (GRCm39)	T311A	probably benign	Het
Mapk14	T	C	17: 28,943,798 (GRCm39)	F129S	probably damaging	Het
Mdga2	A	G	12: 66,763,496 (GRCm39)	I200T	probably damaging	Het
Mocos	T	A	18: 24,816,269 (GRCm39)	S615R	probably damaging	Het
Myh4	T	C	11: 67,146,395 (GRCm39)	V1456A	probably benign	Het
Myh9	T	C	15: 77,648,200 (GRCm39)	I1759V	probably benign	Het
Nat8f5	G	A	6: 85,794,405 (GRCm39)	T185I	possibly damaging	Het
Nav3	T	C	10: 109,529,943 (GRCm39)	I2133V	possibly damaging	Het
Ncam2	T	A	16: 81,309,884 (GRCm39)	M458K	probably benign	Het
Nphp1	T	C	2: 127,590,007 (GRCm39)	S532G	probably benign	Het
Oplah	A	G	15: 76,182,155 (GRCm39)	L1035P	probably damaging	Het
Or4p22	T	C	2: 88,317,709 (GRCm39)	V211A	probably benign	Het
Or52h2	C	T	7: 103,838,598 (GRCm39)	R272H	probably benign	Het
Pask	T	A	1: 93,249,855 (GRCm39)	Q515L	probably benign	Het
Poglut1	A	T	16: 38,369,778 (GRCm39)	F35I	probably benign	Het
Ppp1ca	T	G	19: 4,245,054 (GRCm39)	I319S	probably benign	Het
Psg25	T	A	7: 18,263,533 (GRCm39)	R97*	probably null	Het
Sars2	T	C	7: 28,441,709 (GRCm39)		probably null	Het
Slc15a4	A	G	5: 127,681,600 (GRCm39)		probably null	Het
Slc16a7	T	G	10: 125,069,308 (GRCm39)		probably null	Het
Slc7a8	C	G	14: 54,973,247 (GRCm39)	G240A	possibly damaging	Het
St6gal2	A	T	17: 55,790,018 (GRCm39)	N351Y	probably benign	Het
Susd5	T	C	9: 113,924,992 (GRCm39)	F292L	probably benign	Het
Tmco5	T	A	2: 116,710,795 (GRCm39)	D38E	probably damaging	Het
Tubgcp2	G	A	7: 139,575,984 (GRCm39)	P893L	possibly damaging	Het
Zeb1	G	A	18: 5,759,007 (GRCm39)	C138Y	probably damaging	Het
Zfp609	A	G	9: 65,610,977 (GRCm39)	I662T	possibly damaging	Het
Zfp985	G	A	4: 147,668,020 (GRCm39)	C296Y	probably damaging	Het

Other mutations in Uncx

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02616:Uncx	APN	5	139,532,523 (GRCm39)	missense	possibly damaging	0.95
PIT4378001:Uncx	UTSW	5	139,530,377 (GRCm39)	nonsense	probably null
R0658:Uncx	UTSW	5	139,529,942 (GRCm39)	missense	probably damaging	0.99
R0959:Uncx	UTSW	5	139,532,442 (GRCm39)	missense	probably damaging	1.00
R1786:Uncx	UTSW	5	139,533,302 (GRCm39)	missense	probably benign	0.00
R3870:Uncx	UTSW	5	139,533,120 (GRCm39)	missense	probably damaging	0.98
R4022:Uncx	UTSW	5	139,532,444 (GRCm39)	missense	probably damaging	0.97
R4512:Uncx	UTSW	5	139,532,522 (GRCm39)	missense	possibly damaging	0.59
R4604:Uncx	UTSW	5	139,529,837 (GRCm39)	missense	possibly damaging	0.95
R4864:Uncx	UTSW	5	139,529,875 (GRCm39)	missense	probably damaging	0.98
R5048:Uncx	UTSW	5	139,532,874 (GRCm39)	missense	probably benign	0.00
R5408:Uncx	UTSW	5	139,530,245 (GRCm39)	nonsense	probably null
R5954:Uncx	UTSW	5	139,533,384 (GRCm39)	missense	probably benign
R5997:Uncx	UTSW	5	139,533,344 (GRCm39)	missense	probably damaging	1.00
R7477:Uncx	UTSW	5	139,533,017 (GRCm39)	missense	probably benign
R7563:Uncx	UTSW	5	139,530,261 (GRCm39)	missense	probably damaging	1.00
R7598:Uncx	UTSW	5	139,529,809 (GRCm39)	missense	probably benign	0.09
R8142:Uncx	UTSW	5	139,532,655 (GRCm39)	missense	possibly damaging	0.62
R8347:Uncx	UTSW	5	139,532,571 (GRCm39)	missense	probably damaging	0.99
R8959:Uncx	UTSW	5	139,529,826 (GRCm39)	nonsense	probably null
R9006:Uncx	UTSW	5	139,532,936 (GRCm39)	missense	possibly damaging	0.70
R9068:Uncx	UTSW	5	139,532,573 (GRCm39)	missense	possibly damaging	0.91
R9084:Uncx	UTSW	5	139,529,753 (GRCm39)	missense	possibly damaging	0.86
R9451:Uncx	UTSW	5	139,532,475 (GRCm39)	missense	probably damaging	0.97
R9462:Uncx	UTSW	5	139,529,771 (GRCm39)	missense	probably damaging	1.00
Z1176:Uncx	UTSW	5	139,529,909 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTAGCCAGCCTGATTGTGCC -3'
(R):5'- CTTTGGCTCGGGTAGAAGGC -3'

Sequencing Primer
(F):5'- AGCCTGATTGTGCCTTCCC -3'
(R):5'- AACCCGCGATGCCAGAG -3'

Posted On

2015-08-18