Mutagenetix > Incidental Mutation

Incidental Mutation 'R6918:Unc50'

539424

Institutional Source

Beutler Lab

Gene Symbol

Unc50

Ensembl Gene

ENSMUSG00000026111

Gene Name

unc-50 homolog

Synonyms

GMH1, 1110002A21Rik

MMRRC Submission

045005-MU

Accession Numbers

Essential gene?

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

Stock #

R6918 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

37469220-37478068 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 37477783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 222 (T222S)

Ref Sequence

ENSEMBL: ENSMUSP00000113135 (fasta)

Gene Model

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

AlphaFold

Q9CQ61

Predicted Effect

probably damaging
Transcript: ENSMUST00000027285
AA Change: T222S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000027285
Gene: ENSMUSG00000026111
AA Change: T222S

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 damaging
Transcript: ENSMUST00000114925
AA Change: T222S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000110575
Gene: ENSMUSG00000026111
AA Change: T222S

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000118059
AA Change: T222S

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000113135
Gene: ENSMUSG00000026111
AA Change: T222S

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

Predicted Effect

probably benign
Transcript: ENSMUST00000144617

SMART Domains

Protein: ENSMUSP00000123684
Gene: ENSMUSG00000026111

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: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

100% (48/48)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	A	C	17: 24,627,632 (GRCm39)	K1359Q	probably damaging	Het
Ace	T	C	11: 105,863,769 (GRCm39)	Y406H	probably damaging	Het
Acsl6	A	G	11: 54,232,582 (GRCm39)		probably null	Het
Alms1	T	A	6: 85,599,643 (GRCm39)	Y1959N	possibly damaging	Het
Chrna7	T	A	7: 62,809,299 (GRCm39)	I76F	probably benign	Het
Cuedc1	C	T	11: 88,077,899 (GRCm39)	T296I	probably benign	Het
Ddc	A	G	11: 11,769,307 (GRCm39)	V409A	probably damaging	Het
Dhx8	T	A	11: 101,629,247 (GRCm39)	Y212*	probably null	Het
Dnah6	T	A	6: 73,158,738 (GRCm39)	K622*	probably null	Het
Dscaml1	A	G	9: 45,341,805 (GRCm39)	H72R	probably benign	Het
Dyrk1b	A	G	7: 27,885,350 (GRCm39)	D396G	probably damaging	Het
Gstm2	A	G	3: 107,892,557 (GRCm39)		probably null	Het
Hsd3b1	A	G	3: 98,760,425 (GRCm39)	Y189H	probably damaging	Het
Kif1c	G	A	11: 70,597,813 (GRCm39)	E356K	probably damaging	Het
Kirrel2	A	C	7: 30,150,239 (GRCm39)	C17G	probably damaging	Het
Klhl12	A	G	1: 134,403,584 (GRCm39)	H259R	possibly damaging	Het
Krt1	A	G	15: 101,758,612 (GRCm39)	V184A	probably damaging	Het
Lmod2	A	T	6: 24,603,594 (GRCm39)	N190Y	probably benign	Het
Lrp2	A	C	2: 69,319,649 (GRCm39)	V1958G	probably damaging	Het
Ly6h	T	C	15: 75,437,507 (GRCm39)	S37G	probably damaging	Het
Man2a2	A	T	7: 80,002,940 (GRCm39)	H1056Q	possibly damaging	Het
Misp3	T	G	8: 84,738,313 (GRCm39)	M1L	probably benign	Het
Mixl1	T	A	1: 180,522,243 (GRCm39)	I213F	probably benign	Het
Morc3	T	C	16: 93,650,023 (GRCm39)	I268T	probably benign	Het
Mtx2	C	T	2: 74,706,697 (GRCm39)	T224I	probably damaging	Het
Or8c15	G	A	9: 38,120,948 (GRCm39)	V198M	possibly damaging	Het
Oscp1	A	C	4: 125,970,571 (GRCm39)	D120A	possibly damaging	Het
Parp1	G	A	1: 180,416,235 (GRCm39)	V545I	possibly damaging	Het
Pipox	A	G	11: 77,772,380 (GRCm39)	I330T	probably damaging	Het
Pkp2	A	G	16: 16,090,082 (GRCm39)	Y790C	probably damaging	Het
Pomt1	T	A	2: 32,142,873 (GRCm39)		probably null	Het
Pp2d1	G	A	17: 53,822,487 (GRCm39)	T193M	probably damaging	Het
Prkra	G	T	2: 76,460,797 (GRCm39)	H300Q	probably damaging	Het
Ror2	T	G	13: 53,265,487 (GRCm39)	N523T	probably damaging	Het
Rp1	A	T	1: 4,069,831 (GRCm39)	D1355E	unknown	Het
Rsph4a	T	C	10: 33,781,272 (GRCm39)	Y41H	probably benign	Het
Scn1a	T	A	2: 66,162,557 (GRCm39)	I230F	probably damaging	Het
Taar7e	T	A	10: 23,913,513 (GRCm39)	M1K	probably null	Het
Tex15	T	G	8: 34,063,212 (GRCm39)	L1155V	probably benign	Het
Tmprss3	T	C	17: 31,407,331 (GRCm39)	K321E	probably benign	Het
Trappc14	A	G	5: 138,258,926 (GRCm39)	V211A	probably benign	Het
Tsc2	A	T	17: 24,832,203 (GRCm39)	C728S	probably damaging	Het
Ube2e3	A	T	2: 78,750,383 (GRCm39)	K203M	probably damaging	Het
Vmn1r236	A	T	17: 21,507,878 (GRCm39)	H332L	probably benign	Het
Vmn2r7	G	A	3: 64,598,760 (GRCm39)	T599I	probably benign	Het
Zfp334	A	T	2: 165,223,799 (GRCm39)	D81E	possibly damaging	Het
Zfp710	A	G	7: 79,731,788 (GRCm39)	I322V	possibly 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
R6674:Unc50	UTSW	1	37,476,539 (GRCm39)	missense	probably benign	0.05
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'- AGCTCAGGTTGCCTAGTGAG -3'
(R):5'- GTGATCCAACACTTACTGTACCC -3'

Sequencing Primer
(F):5'- GCCTAGTGAGATGTAGCTATAGATC -3'
(R):5'- GCTTCAAGTGAAAATAAACAGTCAC -3'

Posted On

2018-11-06