Mutagenetix > Incidental Mutation

Incidental Mutation 'R1603:Unc93a'

176289

Institutional Source

Beutler Lab

Gene Symbol

Unc93a

Ensembl Gene

ENSMUSG00000067049

Gene Name

unc-93 homolog A

Synonyms

Unc93l

MMRRC Submission

039640-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.080) question?

Stock #

R1603 (G1)

Quality Score

173

Status

Validated

Chromosome

Chromosomal Location

13327504-13350697 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 13328521 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 444 (E444V)

Ref Sequence

ENSEMBL: ENSMUSP00000082032 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000084966]

AlphaFold

Q710D3

Predicted Effect

probably benign
Transcript: ENSMUST00000084966
AA Change: E444V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000082032
Gene: ENSMUSG00000067049
AA Change: E444V

Domain	Start	End	E-Value	Type
Pfam:UNC-93	11	168	4e-16	PFAM
transmembrane domain	199	221	N/A	INTRINSIC
low complexity region	235	241	N/A	INTRINSIC
transmembrane domain	258	275	N/A	INTRINSIC
transmembrane domain	290	312	N/A	INTRINSIC
transmembrane domain	319	341	N/A	INTRINSIC
transmembrane domain	394	416	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.0%
3x: 98.1%
10x: 95.4%
20x: 89.3%

Validation Efficiency

96% (65/68)

Allele List at MGI

None

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110032F04Rik	G	A	3: 68,777,546 (GRCm39)	S169N	probably benign	Het
Ace	T	A	11: 105,862,925 (GRCm39)	S315R	probably benign	Het
Adamtsl1	A	G	4: 86,333,767 (GRCm39)	I1491V	probably benign	Het
Adrb2	A	T	18: 62,312,579 (GRCm39)	M82K	probably damaging	Het
Aebp2	A	G	6: 140,587,979 (GRCm39)	N350D	probably damaging	Het
Ankrd42	T	C	7: 92,268,899 (GRCm39)		probably benign	Het
Asap1	A	T	15: 64,001,106 (GRCm39)	C492S	probably damaging	Het
Atp8b3	C	A	10: 80,361,619 (GRCm39)	A768S	probably benign	Het
Chga	T	A	12: 102,530,866 (GRCm39)		probably null	Het
Clca4b	A	G	3: 144,627,780 (GRCm39)	V397A	probably benign	Het
Cntnap5a	A	C	1: 116,339,831 (GRCm39)	T697P	possibly damaging	Het
Col12a1	T	C	9: 79,520,244 (GRCm39)	Q2810R	probably damaging	Het
Dchs1	G	T	7: 105,411,977 (GRCm39)	R1380S	probably benign	Het
Dgkg	T	A	16: 22,388,909 (GRCm39)		probably benign	Het
Dlgap3	G	A	4: 127,089,021 (GRCm39)	G206R	probably damaging	Het
Dnah5	A	G	15: 28,295,131 (GRCm39)		probably benign	Het
Dnah5	A	T	15: 28,449,326 (GRCm39)	I4243L	probably benign	Het
Eif1ad16	C	A	12: 87,985,134 (GRCm39)	E136D	probably benign	Het
Fbxw22	G	T	9: 109,207,915 (GRCm39)	P452H	probably benign	Het
Fgl1	T	A	8: 41,650,055 (GRCm39)	D242V	probably damaging	Het
Gba2	C	T	4: 43,567,823 (GRCm39)	G794R	probably damaging	Het
Gimap7	A	T	6: 48,700,864 (GRCm39)	D150V	probably damaging	Het
Gm5334	T	C	7: 68,268,620 (GRCm39)	V13A	probably benign	Het
Grk5	T	C	19: 61,057,800 (GRCm39)	F167L	probably benign	Het
Ice1	A	G	13: 70,751,472 (GRCm39)	L1538P	probably benign	Het
Idh2	T	G	7: 79,748,906 (GRCm39)	E125A	probably damaging	Het
Kmt2a	A	T	9: 44,752,858 (GRCm39)		probably null	Het
Kras	A	T	6: 145,170,871 (GRCm39)	L168*	probably null	Het
Lrrc66	G	A	5: 73,764,769 (GRCm39)	S758L	possibly damaging	Het
Mak	T	C	13: 41,195,582 (GRCm39)	D377G	possibly damaging	Het
Matn2	T	C	15: 34,388,914 (GRCm39)	C335R	probably damaging	Het
Mcoln2	C	T	3: 145,885,977 (GRCm39)	S276F	probably damaging	Het
Morc3	C	A	16: 93,663,391 (GRCm39)	N531K	probably benign	Het
Obp2a	G	A	2: 25,592,757 (GRCm39)	S175N	probably benign	Het
Or2ak6	T	C	11: 58,593,286 (GRCm39)	V253A	probably benign	Het
Or4n4b	T	G	14: 50,536,491 (GRCm39)	I92L	possibly damaging	Het
Or5an1b	A	T	19: 12,299,348 (GRCm39)	V281E	probably damaging	Het
Osbpl3	C	A	6: 50,300,073 (GRCm39)	K510N	probably damaging	Het
Pcnx2	G	A	8: 126,566,365 (GRCm39)	S1026F	probably damaging	Het
Pom121l2	A	T	13: 22,167,514 (GRCm39)	D595V	probably damaging	Het
Poteg	T	A	8: 27,938,033 (GRCm39)	M1K	probably null	Het
Rbl1	G	A	2: 157,017,579 (GRCm39)	L547F	possibly damaging	Het
Rpap3	T	C	15: 97,599,002 (GRCm39)	T82A	possibly damaging	Het
Sema7a	G	A	9: 57,867,959 (GRCm39)	D512N	probably benign	Het
Sgpl1	C	T	10: 60,941,230 (GRCm39)	V294M	possibly damaging	Het
Slc22a28	A	G	19: 8,040,674 (GRCm39)	S526P	probably damaging	Het
Spata31e2	T	A	1: 26,724,650 (GRCm39)	R177W	probably damaging	Het
Tent2	G	A	13: 93,312,073 (GRCm39)	A209V	probably benign	Het
Trim30b	T	G	7: 104,015,019 (GRCm39)	Q123P	possibly damaging	Het
Trpm5	A	G	7: 142,638,946 (GRCm39)	L275P	probably benign	Het
Ttc33	A	G	15: 5,219,275 (GRCm39)	E71G	probably damaging	Het
Unc13d	T	C	11: 115,964,481 (GRCm39)	T288A	possibly damaging	Het
Usf3	T	A	16: 44,038,535 (GRCm39)	M1005K	probably benign	Het
Vmn2r91	T	C	17: 18,326,405 (GRCm39)	I230T	probably benign	Het
Wdr49	G	A	3: 75,304,177 (GRCm39)	Q448*	probably null	Het
Zfp939	T	A	7: 39,122,695 (GRCm39)		noncoding transcript	Het

Other mutations in Unc93a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00570:Unc93a	APN	17	13,339,643 (GRCm39)	splice site	probably null
IGL02950:Unc93a	APN	17	13,344,455 (GRCm39)	missense	probably damaging	1.00
IGL03012:Unc93a	APN	17	13,328,495 (GRCm39)	missense	probably benign	0.09
IGL03192:Unc93a	APN	17	13,335,073 (GRCm39)	nonsense	probably null
R4799:Unc93a	UTSW	17	13,339,782 (GRCm39)	splice site	probably null
R5898:Unc93a	UTSW	17	13,344,464 (GRCm39)	missense	probably damaging	1.00
R7317:Unc93a	UTSW	17	13,335,171 (GRCm39)	missense	probably benign	0.36
R7772:Unc93a	UTSW	17	13,328,639 (GRCm39)	missense	possibly damaging	0.93
R8121:Unc93a	UTSW	17	13,328,560 (GRCm39)	missense	probably benign	0.07
R8696:Unc93a	UTSW	17	13,341,852 (GRCm39)	missense	probably damaging	1.00
R8774:Unc93a	UTSW	17	13,341,837 (GRCm39)	missense	probably damaging	1.00
R8774-TAIL:Unc93a	UTSW	17	13,341,837 (GRCm39)	missense	probably damaging	1.00
R9167:Unc93a	UTSW	17	13,335,108 (GRCm39)	missense	possibly damaging	0.69
R9250:Unc93a	UTSW	17	13,334,488 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCTCGTGCTCAGCCTAGAAAGTG -3'
(R):5'- GCCTTGGAGAAGCCATAGGGTTTG -3'

Sequencing Primer
(F):5'- agccacttcctccaccc -3'
(R):5'- AAGCCATAGGGTTTGTCATTGC -3'

Posted On

2014-04-24