Mutagenetix > Incidental Mutation

Incidental Mutation 'R6674:Unc50'

527202

Institutional Source

Beutler Lab

Gene Symbol

Unc50

Ensembl Gene

ENSMUSG00000026111

Gene Name

unc-50 homolog

Synonyms

GMH1, 1110002A21Rik

MMRRC Submission

044794-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.306) question?

Stock #

R6674 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37469220-37478068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37476539 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 208 (V208A)

Ref Sequence

ENSEMBL: ENSMUSP00000123684 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000027285] [ENSMUST00000042161] [ENSMUST00000114925] [ENSMUST00000118059] [ENSMUST00000144617] [ENSMUST00000151952] [ENSMUST00000193979]

AlphaFold

Q9CQ61

Predicted Effect

probably benign
Transcript: ENSMUST00000027285
AA Change: V208A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000027285
Gene: ENSMUSG00000026111
AA Change: V208A

Domain	Start	End	E-Value	Type
Pfam:UNC-50	28	256	1.1e-92	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000042161

SMART Domains

Protein: ENSMUSP00000038894
Gene: ENSMUSG00000026110

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
coiled coil region	28	63	N/A	INTRINSIC
Pfam:Glyco_transf_54	75	380	5.8e-137	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000114925
AA Change: V208A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110575
Gene: ENSMUSG00000026111
AA Change: V208A

Domain	Start	End	E-Value	Type
Pfam:UNC-50	30	255	6.7e-93	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000118059
AA Change: V208A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000113135
Gene: ENSMUSG00000026111
AA Change: V208A

Domain	Start	End	E-Value	Type
Pfam:UNC-50	28	256	1.1e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134184

Predicted Effect

probably benign
Transcript: ENSMUST00000144617
AA Change: V208A

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000123684
Gene: ENSMUSG00000026111
AA Change: V208A

Domain	Start	End	E-Value	Type
Pfam:UNC-50	28	214	2.3e-79	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000151952

SMART Domains

Protein: ENSMUSP00000114175
Gene: ENSMUSG00000026110

Domain	Start	End	E-Value	Type
transmembrane domain	5	27	N/A	INTRINSIC
coiled coil region	28	63	N/A	INTRINSIC
Pfam:Glyco_transf_54	86	380	7.5e-139	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000193979

SMART Domains

Protein: ENSMUSP00000141818
Gene: ENSMUSG00000026111

Domain	Start	End	E-Value	Type
Pfam:UNC-50	28	170	9.2e-59	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Armh3	T	C	19: 45,963,437 (GRCm39)	E92G	probably benign	Het
Cluh	A	G	11: 74,557,053 (GRCm39)	H1005R	probably damaging	Het
Coro2b	C	T	9: 62,339,709 (GRCm39)	R13H	probably damaging	Het
Depdc1a	T	A	3: 159,232,344 (GRCm39)	N698K	probably benign	Het
Dusp12	G	A	1: 170,707,317 (GRCm39)	T257I	probably benign	Het
Esf1	T	A	2: 139,962,726 (GRCm39)	K782*	probably null	Het
Extl1	T	C	4: 134,085,438 (GRCm39)	T560A	probably damaging	Het
Gpr179	C	A	11: 97,238,231 (GRCm39)		probably null	Het
Krt90	G	A	15: 101,465,761 (GRCm39)	L287F	probably damaging	Het
Mertk	T	C	2: 128,571,277 (GRCm39)	V77A	probably benign	Het
Nr4a2	C	T	2: 57,002,436 (GRCm39)	A6T	probably damaging	Het
Pdzd8	G	A	19: 59,289,801 (GRCm39)	P533L	probably damaging	Het
Plxnb1	G	A	9: 108,937,214 (GRCm39)	G1132R	probably benign	Het
Ppfia2	A	G	10: 106,763,633 (GRCm39)	I1209V	probably benign	Het
Slc26a9	A	T	1: 131,692,756 (GRCm39)	Q696L	probably benign	Het
Sphkap	A	T	1: 83,255,555 (GRCm39)	S444R	probably benign	Het
Tmem144	A	G	3: 79,746,490 (GRCm39)	F22L	possibly damaging	Het
Tomm20l	A	G	12: 71,158,307 (GRCm39)	D30G	probably damaging	Het
Trpc2	A	G	7: 101,745,264 (GRCm39)	T827A	probably benign	Het
Vmn1r125	T	C	7: 21,006,638 (GRCm39)	S179P	probably damaging	Het
Vmn1r225	A	C	17: 20,723,377 (GRCm39)	I273L	probably benign	Het
Vmn2r117	G	A	17: 23,679,023 (GRCm39)	Q734*	probably null	Het
Vmn2r88	A	G	14: 51,651,795 (GRCm39)	I378V	probably benign	Het
Zfp507	C	T	7: 35,494,159 (GRCm39)	V295I	probably damaging	Het
Zfp981	A	G	4: 146,619,950 (GRCm39)	R35G	probably damaging	Het

Other mutations in Unc50

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01922:Unc50	APN	1	37,476,284 (GRCm39)	missense	probably benign	0.00
IGL02417:Unc50	APN	1	37,476,531 (GRCm39)	nonsense	probably null
R1813:Unc50	UTSW	1	37,476,323 (GRCm39)	missense	probably damaging	1.00
R1896:Unc50	UTSW	1	37,476,323 (GRCm39)	missense	probably damaging	1.00
R1899:Unc50	UTSW	1	37,477,880 (GRCm39)	missense	probably damaging	1.00
R1900:Unc50	UTSW	1	37,477,880 (GRCm39)	missense	probably damaging	1.00
R4834:Unc50	UTSW	1	37,471,710 (GRCm39)	missense	probably damaging	0.99
R5974:Unc50	UTSW	1	37,476,290 (GRCm39)	missense	probably benign	0.08
R6918:Unc50	UTSW	1	37,477,783 (GRCm39)	missense	probably damaging	0.98
R6944:Unc50	UTSW	1	37,471,743 (GRCm39)	missense	probably damaging	1.00
R7648:Unc50	UTSW	1	37,470,402 (GRCm39)	missense	probably benign
R7666:Unc50	UTSW	1	37,470,496 (GRCm39)	missense	possibly damaging	0.88
R7836:Unc50	UTSW	1	37,476,377 (GRCm39)	missense	possibly damaging	0.50
R8768:Unc50	UTSW	1	37,476,244 (GRCm39)	missense	probably benign	0.00
R9560:Unc50	UTSW	1	37,476,248 (GRCm39)	missense	possibly damaging	0.47
R9796:Unc50	UTSW	1	37,471,679 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GTGCATCTGAACGCCTTCTATC -3'
(R):5'- GCATGGCTCCAAATGTCACAC -3'

Sequencing Primer
(F):5'- GAACGCCTTCTATCCGCTC -3'
(R):5'- ATGTCACACACCACCTGTTC -3'

Posted On

2018-07-23