Mutagenetix > Incidental Mutation

Incidental Mutation 'R4032:Mansc4'

313532

Institutional Source

Beutler Lab

Gene Symbol

Mansc4

Ensembl Gene

ENSMUSG00000072662

Gene Name

MANSC domain containing 4

Synonyms

Gm5887

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.088) question?

Stock #

R4032 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

146976560-146988530 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 146976678 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 313 (K313E)

Ref Sequence

ENSEMBL: ENSMUSP00000098343 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036111] [ENSMUST00000100780]

AlphaFold

Q3UU94

Predicted Effect

probably benign
Transcript: ENSMUST00000036111

SMART Domains

Protein: ENSMUSP00000048348
Gene: ENSMUSG00000040112

Domain	Start	End	E-Value	Type
Pfam:MRP-S28	138	262	2.5e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000100780
AA Change: K313E

PolyPhen 2 Score 0.194 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000098343
Gene: ENSMUSG00000072662
AA Change: K313E

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
MANEC	24	113	5.4e-34	SMART
low complexity region	263	274	N/A	INTRINSIC
transmembrane domain	284	306	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123139

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143204

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.8%
20x: 93.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alkbh2	C	T	5: 114,262,287 (GRCm39)	E148K	probably damaging	Het
Arhgap17	G	T	7: 122,879,289 (GRCm39)		probably benign	Het
Atp13a4	T	A	16: 29,237,389 (GRCm39)	M846L	probably damaging	Het
Capn5	G	T	7: 97,778,453 (GRCm39)	Q389K	probably damaging	Het
Cdkl3	T	A	11: 51,902,118 (GRCm39)	I109N	probably damaging	Het
Cry2	T	C	2: 92,244,172 (GRCm39)	I334V	probably benign	Het
Cs	T	C	10: 128,196,913 (GRCm39)	L436P	probably damaging	Het
D17H6S53E	T	C	17: 35,346,355 (GRCm39)	S89P	probably benign	Het
Dync1h1	C	T	12: 110,584,483 (GRCm39)	Q629*	probably null	Het
H4c12	T	C	13: 21,934,588 (GRCm39)	I30V	possibly damaging	Het
Itpka	C	T	2: 119,573,082 (GRCm39)	P75S	probably benign	Het
Lyst	C	T	13: 13,791,250 (GRCm39)	H38Y	probably damaging	Het
Megf6	T	A	4: 154,261,550 (GRCm39)	C58*	probably null	Het
Mtor	T	C	4: 148,621,209 (GRCm39)	V1869A	probably benign	Het
Mybpc1	T	C	10: 88,365,426 (GRCm39)	D899G	probably benign	Het
Nek10	C	A	14: 14,853,877 (GRCm38)		probably null	Het
Nfkb1	T	C	3: 135,300,110 (GRCm39)	S657G	possibly damaging	Het
Or10d5j	T	C	9: 39,867,629 (GRCm39)	T213A	probably benign	Het
Or2a25	A	T	6: 42,888,559 (GRCm39)	Y34F	probably benign	Het
Or4m1	T	A	14: 50,557,767 (GRCm39)	D175V	possibly damaging	Het
Or4n5	G	T	14: 50,132,433 (GRCm39)	H275Q	probably benign	Het
Or51f23	A	G	7: 102,453,396 (GRCm39)	K237R	probably benign	Het
Pabir1	C	T	19: 24,454,106 (GRCm39)	M205I	probably benign	Het
Pde1b	A	G	15: 103,429,753 (GRCm39)	D82G	probably damaging	Het
Pdzrn4	C	T	15: 92,667,414 (GRCm39)	T522M	probably damaging	Het
Ptpro	C	A	6: 137,438,740 (GRCm39)	N373K	probably damaging	Het
Ptprs	T	C	17: 56,720,386 (GRCm39)	Y1478C	probably damaging	Het
Sdc2	A	T	15: 33,017,323 (GRCm39)	I46F	probably damaging	Het
Sergef	C	A	7: 46,092,726 (GRCm39)	E428*	probably null	Het
Stk36	A	G	1: 74,665,207 (GRCm39)	S651G	probably benign	Het
Ubr5	A	G	15: 38,025,081 (GRCm39)	V559A		Het
Ugt8a	C	A	3: 125,667,807 (GRCm39)	D345Y	probably damaging	Het
Usp44	A	G	10: 93,683,127 (GRCm39)		probably benign	Het
Vps13a	A	T	19: 16,594,263 (GRCm39)	L3156Q	probably damaging	Het
Zfp655	A	G	5: 145,180,858 (GRCm39)	T239A	possibly damaging	Het
Zfp87	T	C	13: 74,520,449 (GRCm39)	T210A	possibly damaging	Het

Other mutations in Mansc4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0115:Mansc4	UTSW	6	146,976,725 (GRCm39)	missense	possibly damaging	0.63
R0481:Mansc4	UTSW	6	146,976,725 (GRCm39)	missense	possibly damaging	0.63
R1550:Mansc4	UTSW	6	146,977,136 (GRCm39)	missense	probably damaging	0.99
R1670:Mansc4	UTSW	6	146,976,689 (GRCm39)	missense	possibly damaging	0.46
R1874:Mansc4	UTSW	6	146,976,688 (GRCm39)	missense	probably benign	0.01
R1981:Mansc4	UTSW	6	146,977,173 (GRCm39)	missense	probably benign	0.45
R1982:Mansc4	UTSW	6	146,977,173 (GRCm39)	missense	probably benign	0.45
R5677:Mansc4	UTSW	6	146,983,047 (GRCm39)	missense	probably benign	0.00
R6525:Mansc4	UTSW	6	146,976,645 (GRCm39)	missense	probably benign	0.41
R6534:Mansc4	UTSW	6	146,988,371 (GRCm39)	missense	probably damaging	1.00
R7197:Mansc4	UTSW	6	146,977,203 (GRCm39)	missense	probably damaging	1.00
R7791:Mansc4	UTSW	6	146,983,042 (GRCm39)	missense	unknown
Z1177:Mansc4	UTSW	6	146,988,459 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GACAGTTTTACCAAGCCTTTGC -3'
(R):5'- ACAAGAGTTTCCCAGGTGC -3'

Sequencing Primer
(F):5'- GCCTTTGCTTGGGTAGATATTG -3'
(R):5'- GCCGATCTCGACTCAACATTAG -3'

Posted On

2015-04-30