Mutagenetix > Incidental Mutation

Incidental Mutation 'R9560:Unc50'

720941

Institutional Source

Beutler Lab

Gene Symbol

Unc50

Ensembl Gene

ENSMUSG00000026111

Gene Name

unc-50 homolog

Synonyms

GMH1, 1110002A21Rik

Accession Numbers

Essential gene?

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

Stock #

R9560 (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 A at 37476248 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 136 (V136D)

Ref Sequence

ENSEMBL: ENSMUSP00000027285 (fasta)

Gene Model

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

AlphaFold

Q9CQ61

Predicted Effect

possibly damaging
Transcript: ENSMUST00000027285
AA Change: V136D

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000027285
Gene: ENSMUSG00000026111
AA Change: V136D

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

possibly damaging
Transcript: ENSMUST00000114925
AA Change: V136D

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000110575
Gene: ENSMUSG00000026111
AA Change: V136D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000118059
AA Change: V136D

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000113135
Gene: ENSMUSG00000026111
AA Change: V136D

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000144617
AA Change: V136D

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123684
Gene: ENSMUSG00000026111
AA Change: V136D

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

possibly damaging
Transcript: ENSMUST00000193979
AA Change: V136D

PolyPhen 2 Score 0.470 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000141818
Gene: ENSMUSG00000026111
AA Change: V136D

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: 99.6%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930111J21Rik1	T	C	11: 48,839,082 (GRCm39)	R502G	probably damaging	Het
A930004D18Rik	G	A	2: 18,032,218 (GRCm39)		probably benign	Het
Abhd16b	T	A	2: 181,135,103 (GRCm39)	C2S	probably damaging	Het
Adam2	T	C	14: 66,275,102 (GRCm39)	M544V	probably benign	Het
Agbl3	T	A	6: 34,823,843 (GRCm39)	V841E	possibly damaging	Het
Aldh1l1	A	G	6: 90,536,825 (GRCm39)	D127G	probably damaging	Het
Ap1b1	G	A	11: 4,976,363 (GRCm39)	E464K	probably benign	Het
Cdh19	T	A	1: 110,821,004 (GRCm39)	E578V	possibly damaging	Het
Chat	G	A	14: 32,170,942 (GRCm39)	Q186*	probably null	Het
Cited4	A	G	4: 120,524,165 (GRCm39)	T56A	probably benign	Het
Cpt1a	T	C	19: 3,402,531 (GRCm39)	L63P	possibly damaging	Het
Havcr2	C	A	11: 46,347,164 (GRCm39)	A47E	probably benign	Het
Hdgfl1	C	T	13: 26,953,239 (GRCm39)	G278E	probably damaging	Het
Klf5	A	T	14: 99,539,034 (GRCm39)	Q149L	probably benign	Het
Klk10	A	G	7: 43,433,746 (GRCm39)	Y186C	probably damaging	Het
Krt79	C	T	15: 101,846,277 (GRCm39)	E224K	probably damaging	Het
Llgl2	A	G	11: 115,725,682 (GRCm39)	D10G	probably damaging	Het
Lrrc37a	C	T	11: 103,347,420 (GRCm39)	V3092I	unknown	Het
Minar1	G	T	9: 89,484,531 (GRCm39)	Q289K	probably benign	Het
Nbeal1	A	G	1: 60,368,544 (GRCm39)	T2630A	probably damaging	Het
Ncor1	T	C	11: 62,263,948 (GRCm39)	T485A	possibly damaging	Het
Olfr908	G	A	9: 38,427,385 (GRCm39)	S19N	probably benign	Het
Or10h1b	C	T	17: 33,395,868 (GRCm39)	T164M	probably damaging	Het
Or10h5	G	A	17: 33,434,986 (GRCm39)	H111Y	probably damaging	Het
Or4c104	A	C	2: 88,586,290 (GRCm39)	I243S	possibly damaging	Het
Patj	G	A	4: 98,570,289 (GRCm39)	E1705K	probably benign	Het
Pcdh17	T	A	14: 84,770,898 (GRCm39)	D1125E	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Pnliprp2	T	C	19: 58,762,523 (GRCm39)	V376A	possibly damaging	Het
Pramel42	A	T	5: 94,685,640 (GRCm39)	R433S	possibly damaging	Het
Scn1a	A	T	2: 66,158,131 (GRCm39)	L414Q	probably damaging	Het
Sfi1	ACA	ACATCTTCCCAAAGCCAGTCA	11: 3,103,382 (GRCm39)		probably benign	Het
Slc22a23	A	G	13: 34,381,851 (GRCm39)	V411A	possibly damaging	Het
Slco1c1	T	C	6: 141,515,076 (GRCm39)	V657A	probably benign	Het
Slco3a1	A	T	7: 74,153,931 (GRCm39)	Y214N	probably damaging	Het
Sned1	A	G	1: 93,202,110 (GRCm39)	T633A	probably damaging	Het
Tmem175	T	C	5: 108,789,693 (GRCm39)	F96S	probably damaging	Het
Tmf1	C	T	6: 97,147,293 (GRCm39)	E558K	possibly damaging	Het
Tsbp1	A	T	17: 34,663,016 (GRCm39)	Q103H	probably damaging	Het
Ubac2	G	A	14: 122,145,636 (GRCm39)	G98D	possibly damaging	Het
Vmn1r49	T	A	6: 90,049,382 (GRCm39)	M207L	probably benign	Het
Zfp853	T	C	5: 143,275,080 (GRCm39)	E195G	unknown	Het
Zfyve9	A	T	4: 108,575,334 (GRCm39)	N582K	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
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
R9796:Unc50	UTSW	1	37,471,679 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- AAATTGCACCTCGGGTCTC -3'
(R):5'- TGTGAGAATAACATCTGCCAGG -3'

Sequencing Primer
(F):5'- GCACCTCGGGTCTCCATCTC -3'
(R):5'- ATACCGTGAGTGTCAGCAC -3'

Posted On

2022-08-09