Mutagenetix > Incidental Mutation

Incidental Mutation 'R5954:Uncx'

471046

Institutional Source

Beutler Lab

Gene Symbol

Uncx

Ensembl Gene

ENSMUSG00000029546

Gene Name

UNC homeobox

Synonyms

Chx4, Uncx4.1

MMRRC Submission

044143-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5954 (G1)

Quality Score

122

Status

Validated

Chromosome

Chromosomal Location

139529620-139533934 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 139533384 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 483 (S483L)

Ref Sequence

ENSEMBL: ENSMUSP00000134067 (fasta)

Gene Model

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

AlphaFold

O08934

Predicted Effect

probably benign
Transcript: ENSMUST00000172997
AA Change: S483L

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

SMART Domains

Protein: ENSMUSP00000134067
Gene: ENSMUSG00000029546
AA Change: S483L

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

0.0898

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

100% (62/62)

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	C	17: 24,616,390 (GRCm39)	I944T	probably benign	Het
Ank2	T	C	3: 126,791,510 (GRCm39)	T823A	probably benign	Het
Ankrd42	C	G	7: 92,273,175 (GRCm39)		probably null	Het
Anks4b	T	A	7: 119,781,396 (GRCm39)	N142K	possibly damaging	Het
Armc5	A	G	7: 127,841,444 (GRCm39)	E484G	probably benign	Het
B4galnt3	A	G	6: 120,202,149 (GRCm39)	F118L	possibly damaging	Het
Bbs12	C	T	3: 37,374,151 (GRCm39)	L200F	possibly damaging	Het
Cacna1h	A	G	17: 25,602,175 (GRCm39)	F1555S	probably damaging	Het
Cds2	A	G	2: 132,139,191 (GRCm39)	T145A	probably benign	Het
Cenps	C	A	4: 149,214,658 (GRCm39)		probably benign	Het
Chd6	A	C	2: 160,807,747 (GRCm39)	H1822Q	probably benign	Het
Chdh	C	T	14: 29,753,138 (GRCm39)	R16C	possibly damaging	Het
Cnga1	T	C	5: 72,762,221 (GRCm39)	D431G	probably damaging	Het
Dock8	G	A	19: 25,148,983 (GRCm39)	R1487Q	probably damaging	Het
Farp1	T	A	14: 121,460,079 (GRCm39)	V116D	probably damaging	Het
Fbxo24	T	A	5: 137,617,943 (GRCm39)	T274S	probably damaging	Het
Fmnl3	G	A	15: 99,223,791 (GRCm39)	R302W	probably damaging	Het
Gatad2b	T	C	3: 90,258,748 (GRCm39)	L257P	probably damaging	Het
Gm20402	C	T	3: 52,176,311 (GRCm39)	P30L	probably damaging	Het
Gm7932	C	T	6: 48,839,793 (GRCm39)		noncoding transcript	Het
Gpatch8	A	T	11: 102,371,767 (GRCm39)	D590E	unknown	Het
Herc1	T	G	9: 66,358,774 (GRCm39)		probably benign	Het
Hsd3b2	T	A	3: 98,618,875 (GRCm39)	I357F	probably benign	Het
Ipo5	A	G	14: 121,157,396 (GRCm39)	Y78C	probably damaging	Het
Itga8	C	A	2: 12,137,297 (GRCm39)	A23S	probably damaging	Het
Itgb4	C	T	11: 115,874,983 (GRCm39)	R447W	probably benign	Het
Kat2a	A	G	11: 100,599,724 (GRCm39)	V451A	possibly damaging	Het
Knstrn	A	G	2: 118,661,436 (GRCm39)		probably benign	Het
Med23	A	G	10: 24,746,381 (GRCm39)		probably benign	Het
Mefv	A	G	16: 3,533,579 (GRCm39)	Y231H	probably benign	Het
Or4d10	A	T	19: 12,051,447 (GRCm39)	I183N	possibly damaging	Het
Or4e5	T	A	14: 52,727,624 (GRCm39)	I266F	probably benign	Het
Or5p69	T	A	7: 107,966,808 (GRCm39)	I37N	probably damaging	Het
Or8g21	A	G	9: 38,906,711 (GRCm39)	S7P	probably damaging	Het
Pak5	G	T	2: 135,958,383 (GRCm39)	T235K	probably benign	Het
Plppr3	G	T	10: 79,701,960 (GRCm39)	P294Q	probably benign	Het
Prepl	A	G	17: 85,372,077 (GRCm39)	F725L	probably benign	Het
Ptchd3	A	T	11: 121,727,413 (GRCm39)		probably benign	Het
Rprd2	T	C	3: 95,672,175 (GRCm39)	E1076G	probably damaging	Het
Sarm1	C	A	11: 78,381,428 (GRCm39)	E352*	probably null	Het
Sccpdh	T	A	1: 179,508,153 (GRCm39)	H14Q	probably benign	Het
Senp7	A	G	16: 55,990,234 (GRCm39)	I661V	probably benign	Het
Septin3	T	C	15: 82,174,628 (GRCm39)	F140L	probably damaging	Het
Spag6	G	T	2: 18,715,417 (GRCm39)	Q65H	probably damaging	Het
Tnni3	C	T	7: 4,522,539 (GRCm39)	R137H	probably damaging	Het
Trank1	A	G	9: 111,194,201 (GRCm39)	S742G	probably benign	Het
Ucn3	T	C	13: 3,991,413 (GRCm39)	I80V	probably benign	Het
Ulk2	A	T	11: 61,694,622 (GRCm39)		probably benign	Het
Vps39	A	G	2: 120,155,143 (GRCm39)	V550A	probably damaging	Het
Zfp697	C	A	3: 98,335,909 (GRCm39)	T558K	probably damaging	Het
Zfp790	G	T	7: 29,528,929 (GRCm39)	G538V	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
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
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'- TGGGTTTCCTAGTGCCACAG -3'
(R):5'- GACTGGCTAAGCGCATCTTC -3'

Sequencing Primer
(F):5'- AGGCCAGTTTCGGGACCTTC -3'
(R):5'- TAAGCGCATCTTCCAGCCG -3'

Posted On

2017-03-31