Mutagenetix > Incidental Mutation

Incidental Mutation 'R5750:Unc93a2'

445985

Institutional Source

Beutler Lab

Gene Symbol

Unc93a2

Ensembl Gene

ENSMUSG00000056133

Gene Name

unc-93 homolog A2

Synonyms

Gm9992

MMRRC Submission

043356-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.095) question?

Stock #

R5750 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

7630214-7652863 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 7637130 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 133 (V133I)

Ref Sequence

ENSEMBL: ENSMUSP00000155918 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070059] [ENSMUST00000231397] [ENSMUST00000231922]

AlphaFold

B2RWK3

Predicted Effect

probably benign
Transcript: ENSMUST00000070059
AA Change: V353I

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

SMART Domains

Protein: ENSMUSP00000064469
Gene: ENSMUSG00000056133
AA Change: V353I

Domain	Start	End	E-Value	Type
Pfam:UNC-93	11	168	2.7e-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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000178099

Predicted Effect

probably benign
Transcript: ENSMUST00000231397
AA Change: V133I

PolyPhen 2 Score 0.111 (Sensitivity: 0.93; Specificity: 0.86)

Predicted Effect

probably benign
Transcript: ENSMUST00000231922

Meta Mutation Damage Score

0.0807

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 95.9%

Validation Efficiency

100% (55/55)

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agmat	G	A	4: 141,476,998 (GRCm39)	V135I	probably benign	Het
Agr3	T	C	12: 35,996,941 (GRCm39)	Y72H	probably benign	Het
Ankhd1	T	A	18: 36,757,955 (GRCm39)	M883K	probably benign	Het
Cpeb1	A	T	7: 81,086,099 (GRCm39)	D9E	probably benign	Het
Creb3l1	C	T	2: 91,816,608 (GRCm39)	V386M	possibly damaging	Het
Dnlz	C	T	2: 26,241,423 (GRCm39)	V102M	probably damaging	Het
Esp4	C	T	17: 40,913,286 (GRCm39)	T51M	probably benign	Het
Fap	C	A	2: 62,359,058 (GRCm39)	C443F	probably damaging	Het
Fbxo17	G	A	7: 28,436,897 (GRCm39)	R284H	probably damaging	Het
Fpr1	T	A	17: 18,097,525 (GRCm39)	I155F	probably benign	Het
Fshr	T	A	17: 89,293,669 (GRCm39)	L336F	probably benign	Het
Gna15	G	A	10: 81,345,230 (GRCm39)	Q212*	probably null	Het
Hk1	A	G	10: 62,110,245 (GRCm39)	F785L	possibly damaging	Het
Ints8	T	A	4: 11,241,654 (GRCm39)	Q263L	possibly damaging	Het
Itgax	T	C	7: 127,743,878 (GRCm39)	F880L	probably benign	Het
Kcnq4	A	C	4: 120,572,246 (GRCm39)	V327G	probably damaging	Het
Kdm4a	A	G	4: 117,999,396 (GRCm39)		probably benign	Het
Leng8	C	T	7: 4,145,119 (GRCm39)	S173L	probably benign	Het
Lrrc37a	C	T	11: 103,348,923 (GRCm39)	D2591N	unknown	Het
Macrod2	T	A	2: 141,357,240 (GRCm39)	S179T	probably benign	Het
Map4k2	T	A	19: 6,401,367 (GRCm39)	S612R	probably benign	Het
Mast2	A	G	4: 116,166,086 (GRCm39)		probably benign	Het
Micall2	C	T	5: 139,701,456 (GRCm39)		probably null	Het
Miga2	T	A	2: 30,261,577 (GRCm39)	W191R	probably damaging	Het
Mterf1b	T	C	5: 4,246,683 (GRCm39)	I108T	probably damaging	Het
Myh2	A	G	11: 67,082,254 (GRCm39)	I1319V	probably benign	Het
Nalcn	T	C	14: 123,809,450 (GRCm39)	E234G	probably benign	Het
Ncoa4	T	A	14: 31,899,264 (GRCm39)	C602*	probably null	Het
Ntrk2	C	A	13: 58,956,736 (GRCm39)	P65Q	probably benign	Het
Or52z15	G	A	7: 103,332,362 (GRCm39)	V136I	possibly damaging	Het
Or6c215	C	T	10: 129,637,489 (GRCm39)	V302M	probably benign	Het
P3h1	A	T	4: 119,095,863 (GRCm39)	I324F	probably damaging	Het
Peli2	G	T	14: 48,493,632 (GRCm39)	V285L	possibly damaging	Het
Qser1	A	G	2: 104,619,268 (GRCm39)	S515P	probably damaging	Het
Rnf31	C	T	14: 55,836,143 (GRCm39)	R721C	probably damaging	Het
Rps5	A	G	7: 12,659,334 (GRCm39)	K42E	probably damaging	Het
Rufy4	A	T	1: 74,172,068 (GRCm39)	T264S	probably benign	Het
Shq1	A	T	6: 100,588,775 (GRCm39)	V259D	possibly damaging	Het
Slc22a3	T	C	17: 12,652,395 (GRCm39)	I410V	probably benign	Het
Stx5a	T	C	19: 8,732,501 (GRCm39)		probably benign	Het
Syne1	G	T	10: 5,289,209 (GRCm39)	H1430Q	probably benign	Het
Tasor2	G	A	13: 3,623,642 (GRCm39)	Q1421*	probably null	Het
Tmem126b	A	C	7: 90,118,865 (GRCm39)	V141G	probably damaging	Het
Trim52	C	A	14: 106,344,932 (GRCm39)	Q197K	probably benign	Het
Tshz1	A	G	18: 84,032,086 (GRCm39)	L774P	possibly damaging	Het
Ttn	T	C	2: 76,602,031 (GRCm39)	S10217G	possibly damaging	Het
Unc45a	A	G	7: 79,984,571 (GRCm39)	V228A	probably benign	Het
Vwa2	G	T	19: 56,897,663 (GRCm39)	G656V	probably benign	Het
Xpo5	T	C	17: 46,529,556 (GRCm39)		probably null	Het
Zeb2	T	A	2: 44,887,530 (GRCm39)	Q494L	probably damaging	Het

Other mutations in Unc93a2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00913:Unc93a2	APN	17	7,637,138 (GRCm39)	missense	probably damaging	1.00
IGL01609:Unc93a2	APN	17	7,637,138 (GRCm39)	missense	probably damaging	0.96
R0893:Unc93a2	UTSW	17	7,641,926 (GRCm39)	missense	probably damaging	0.98
R5271:Unc93a2	UTSW	17	7,637,081 (GRCm39)	missense	possibly damaging	0.82
R5326:Unc93a2	UTSW	17	7,637,187 (GRCm39)	missense	probably benign	0.35
R5542:Unc93a2	UTSW	17	7,637,187 (GRCm39)	missense	probably benign	0.35
R5567:Unc93a2	UTSW	17	7,631,202 (GRCm39)	missense	probably benign	0.04
R6465:Unc93a2	UTSW	17	7,641,842 (GRCm39)	missense	probably damaging	1.00
R6714:Unc93a2	UTSW	17	7,643,937 (GRCm39)	missense	probably benign	0.05
R7130:Unc93a2	UTSW	17	7,637,824 (GRCm39)	missense	probably benign	0.16
R7142:Unc93a2	UTSW	17	7,644,021 (GRCm39)	missense	probably damaging	0.97
R7222:Unc93a2	UTSW	17	7,643,866 (GRCm39)	missense	probably damaging	1.00
R9359:Unc93a2	UTSW	17	7,641,842 (GRCm39)	missense	probably damaging	1.00
R9386:Unc93a2	UTSW	17	7,637,164 (GRCm39)	nonsense	probably null
Z1176:Unc93a2	UTSW	17	7,643,929 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGGAGGATTCTACTATCCACAC -3'
(R):5'- TTCCGAGCATTGCGTGAAAG -3'

Sequencing Primer
(F):5'- GGATTCTACTATCCACACAAAGAGAG -3'
(R):5'- GCATTGCGTGAAAGCGTTAG -3'

Posted On

2016-11-21