Mutagenetix > Incidental Mutation

Incidental Mutation 'R4022:Uncx'

313298

Institutional Source

Beutler Lab

Gene Symbol

Uncx

Ensembl Gene

ENSMUSG00000029546

Gene Name

UNC homeobox

Synonyms

Chx4, Uncx4.1

MMRRC Submission

040956-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4022 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

139529620-139533934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 139532444 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 170 (T170S)

Ref Sequence

ENSEMBL: ENSMUSP00000134067 (fasta)

Gene Model

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

AlphaFold

O08934

Predicted Effect

probably damaging
Transcript: ENSMUST00000031523
AA Change: T170S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031523
Gene: ENSMUSG00000029546
AA Change: T170S

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

probably damaging
Transcript: ENSMUST00000172997
AA Change: T170S

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000134067
Gene: ENSMUSG00000029546
AA Change: T170S

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

0.0981

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abo	T	A	2: 26,733,812 (GRCm39)	Y131F	probably damaging	Het
Adcy4	C	T	14: 56,012,635 (GRCm39)		probably null	Het
Ago3	T	A	4: 126,262,386 (GRCm39)	N388I	probably benign	Het
Arfgef2	G	T	2: 166,715,865 (GRCm39)	V1385L	probably benign	Het
Camk2a	A	T	18: 61,097,000 (GRCm39)	K28*	probably null	Het
Ccdc180	T	A	4: 45,904,560 (GRCm39)	Y385*	probably null	Het
Cd209g	A	T	8: 4,185,955 (GRCm39)	Q46L	possibly damaging	Het
Cdh22	T	C	2: 164,999,173 (GRCm39)	T220A	probably benign	Het
Cltc	A	T	11: 86,611,174 (GRCm39)	C562S	probably damaging	Het
Cyp2c55	T	A	19: 39,023,878 (GRCm39)		probably null	Het
Cyp2d34	A	G	15: 82,502,809 (GRCm39)	V139A	probably benign	Het
Ddias	G	T	7: 92,510,686 (GRCm39)	D105E	possibly damaging	Het
Dhx30	T	C	9: 109,913,465 (GRCm39)	D1223G	possibly damaging	Het
Dnajb11	A	G	16: 22,688,196 (GRCm39)	D238G	probably damaging	Het
Entpd7	G	A	19: 43,679,597 (GRCm39)	R50Q	probably benign	Het
Erbb2	T	G	11: 98,326,123 (GRCm39)	C966W	probably benign	Het
Exoc1	C	T	5: 76,697,417 (GRCm39)	T405I	possibly damaging	Het
Fbxo28	T	C	1: 182,157,475 (GRCm39)	N108S	possibly damaging	Het
Fhdc1	T	C	3: 84,352,409 (GRCm39)	E157G	probably benign	Het
Gstcd	C	T	3: 132,787,829 (GRCm39)	V290M	probably damaging	Het
Hps3	A	G	3: 20,089,425 (GRCm39)	V2A	possibly damaging	Het
Ilrun	T	C	17: 28,005,236 (GRCm39)	E107G	probably damaging	Het
Itsn2	G	A	12: 4,674,927 (GRCm39)	R23H	probably damaging	Het
Kirrel1	C	T	3: 86,996,458 (GRCm39)	M380I	probably null	Het
Lax1	C	T	1: 133,610,774 (GRCm39)	G105S	probably benign	Het
Lin7c	G	T	2: 109,726,790 (GRCm39)		probably null	Het
Lrrn2	T	C	1: 132,866,852 (GRCm39)	V639A	probably benign	Het
Luzp1	T	C	4: 136,269,504 (GRCm39)	S576P	probably benign	Het
Mast4	G	A	13: 102,875,829 (GRCm39)	R1112*	probably null	Het
Mast4	G	T	13: 102,990,377 (GRCm39)	A48E	probably damaging	Het
Mat2a	G	A	6: 72,413,227 (GRCm39)	R168C	probably damaging	Het
Megf8	T	C	7: 25,037,200 (GRCm39)	V700A	probably damaging	Het
Mroh2a	G	C	1: 88,173,764 (GRCm39)	A871P	probably damaging	Het
Myh2	G	T	11: 67,070,230 (GRCm39)	E421*	probably null	Het
Or12d2	T	A	17: 37,625,165 (GRCm39)	I37L	probably benign	Het
Or5k17	T	C	16: 58,746,483 (GRCm39)	I150M	possibly damaging	Het
Pecam1	T	C	11: 106,545,986 (GRCm39)	N693D	probably benign	Het
Ppip5k1	C	T	2: 121,168,108 (GRCm39)	R715H	probably damaging	Het
Prune2	A	G	19: 16,977,384 (GRCm39)	T40A	probably damaging	Het
Ranbp17	G	A	11: 33,429,189 (GRCm39)	A352V	probably benign	Het
Reln	T	C	5: 22,432,628 (GRCm39)	Q124R	probably benign	Het
Rnf17	C	T	14: 56,697,458 (GRCm39)	H451Y	probably damaging	Het
Ryr3	C	G	2: 112,506,218 (GRCm39)	R3443P	probably damaging	Het
Sall3	T	A	18: 81,013,055 (GRCm39)	E1127V	probably benign	Het
Sertad3	A	G	7: 27,176,120 (GRCm39)	N185D	probably damaging	Het
Sox1	A	G	8: 12,446,719 (GRCm39)	Y120C	probably damaging	Het
Spag17	A	T	3: 99,956,546 (GRCm39)	I881F	probably benign	Het
Spart	G	T	3: 55,025,157 (GRCm39)	V251L	probably damaging	Het
Stard9	A	G	2: 120,534,636 (GRCm39)	E3631G	probably benign	Het
Syde2	A	G	3: 145,721,480 (GRCm39)	T848A	probably benign	Het
Tmem11	T	C	11: 60,756,154 (GRCm39)	D12G	possibly damaging	Het
Trim28	T	C	7: 12,762,485 (GRCm39)		probably benign	Het
Tsen2	T	A	6: 115,524,948 (GRCm39)	V49E	probably damaging	Het
Tspan1	C	T	4: 116,024,232 (GRCm39)	M10I	probably benign	Het
Usp24	T	C	4: 106,236,421 (GRCm39)		probably benign	Het
Vmn1r84	T	C	7: 12,095,857 (GRCm39)	I267V	probably benign	Het
Zfp488	T	A	14: 33,693,110 (GRCm39)	M18L	probably benign	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
R4512:Uncx	UTSW	5	139,532,522 (GRCm39)	missense	possibly damaging	0.59
R4514: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'- GCAACCCGAGTATCAGCATC -3'
(R):5'- CTTTGGCTCGGGTAGAAGGC -3'

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

Posted On

2015-04-30