Mutagenetix > Incidental Mutation

Incidental Mutation 'R9761:Mansc1'

733011

Institutional Source

Beutler Lab

Gene Symbol

Mansc1

Ensembl Gene

ENSMUSG00000032718

Gene Name

MANSC domain containing 1

Synonyms

9130403P13Rik

MMRRC Submission

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.060) question?

Stock #

R9761 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

134586170-134609451 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 134587004 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 391 (L391Q)

Ref Sequence

ENSEMBL: ENSMUSP00000038346 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047443]

AlphaFold

Q9CR33

Predicted Effect

probably damaging
Transcript: ENSMUST00000047443
AA Change: L391Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000038346
Gene: ENSMUSG00000032718
AA Change: L391Q

Domain	Start	End	E-Value	Type
MANEC	23	116	3.87e-44	SMART
low complexity region	219	231	N/A	INTRINSIC
low complexity region	260	271	N/A	INTRINSIC
transmembrane domain	370	392	N/A	INTRINSIC

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc9	G	A	6: 142,544,854 (GRCm39)	T1411I	possibly damaging	Het
Ablim3	C	A	18: 61,952,885 (GRCm39)	R393L	possibly damaging	Het
Akap3	A	G	6: 126,842,200 (GRCm39)	D273G	probably benign	Het
Ankrd35	C	T	3: 96,591,733 (GRCm39)	T673I	possibly damaging	Het
Atp11b	A	T	3: 35,903,607 (GRCm39)	K1114*	probably null	Het
Atp11b	C	T	3: 35,903,621 (GRCm39)	P947L	probably benign	Het
Atp11b	G	T	3: 35,903,616 (GRCm39)	D1117Y	probably damaging	Het
Cfap74	C	A	4: 155,550,844 (GRCm39)	H243Q	unknown	Het
Dgkh	A	T	14: 78,889,163 (GRCm39)	S111R	probably damaging	Het
Dpp6	G	A	5: 27,869,743 (GRCm39)	R505K	probably benign	Het
Elp4	C	T	2: 105,624,904 (GRCm39)	G330S	probably damaging	Het
Fsip2	A	T	2: 82,821,994 (GRCm39)	N5909I	probably benign	Het
Gbp5	A	G	3: 142,213,518 (GRCm39)	D478G	probably damaging	Het
Gcn1	A	G	5: 115,729,064 (GRCm39)	M792V	probably benign	Het
Gpr152	T	C	19: 4,193,227 (GRCm39)	L256P	probably damaging	Het
Greb1	C	T	12: 16,751,275 (GRCm39)	M1006I	probably benign	Het
Gzf1	C	T	2: 148,530,011 (GRCm39)	S514L	probably damaging	Het
Helz	C	A	11: 107,560,874 (GRCm39)	S1312*	probably null	Het
Hmcn1	T	C	1: 150,868,625 (GRCm39)	I60V	probably damaging	Het
Ift81	A	C	5: 122,729,146 (GRCm39)	D395E	probably benign	Het
Itfg1	T	C	8: 86,563,031 (GRCm39)	N123S	probably benign	Het
Klk1b1	C	A	7: 43,618,739 (GRCm39)	H39N	possibly damaging	Het
Klk1b24	A	T	7: 43,839,779 (GRCm39)	N46I	possibly damaging	Het
Klrg2	C	A	6: 38,607,287 (GRCm39)	W241L	probably damaging	Het
Lhx9	T	C	1: 138,774,934 (GRCm39)	N3S	probably benign	Het
Lrrc2	A	G	9: 110,809,942 (GRCm39)	D326G	possibly damaging	Het
Mcidas	G	A	13: 113,135,453 (GRCm39)	R292H	probably benign	Het
Ms4a19	T	C	19: 11,119,754 (GRCm39)	T59A	probably benign	Het
Myh13	A	G	11: 67,251,294 (GRCm39)	E1391G	probably damaging	Het
Or12d13	T	A	17: 37,648,057 (GRCm39)	Q22L	possibly damaging	Het
Or14j7	T	C	17: 38,234,934 (GRCm39)	F159S	probably benign	Het
Or4f53	C	A	2: 111,087,606 (GRCm39)	L49I	probably benign	Het
Or4f53	T	G	2: 111,087,607 (GRCm39)	L49R	possibly damaging	Het
Or8g26	T	C	9: 39,096,146 (GRCm39)	I221T	probably damaging	Het
Or8k20	C	T	2: 86,106,150 (GRCm39)	R227Q	probably benign	Het
Pfpl	G	C	19: 12,406,297 (GRCm39)	E183Q	probably damaging	Het
Poc1b	C	T	10: 98,965,356 (GRCm39)	S95F	probably benign	Het
Pprc1	A	G	19: 46,049,998 (GRCm39)	I104V	unknown	Het
Prkar1b	C	A	5: 139,092,410 (GRCm39)	V136L	probably benign	Het
Scn2a	A	G	2: 65,566,030 (GRCm39)	I1351M	probably damaging	Het
Serpina3c	G	T	12: 104,118,089 (GRCm39)	A83D	probably damaging	Het
Slc23a3	ATT	ATTT	1: 75,109,925 (GRCm39)		probably null	Het
Syne1	A	G	10: 5,318,190 (GRCm39)		probably null	Het
Ticrr	A	G	7: 79,345,313 (GRCm39)	E1726G	probably damaging	Het
Tmprss12	T	C	15: 100,190,529 (GRCm39)	W300R	probably damaging	Het
Tnrc6c	T	A	11: 117,623,136 (GRCm39)	H892Q	probably benign	Het
Tnxb	A	G	17: 34,903,987 (GRCm39)	T1043A	probably benign	Het
Vps50	T	A	6: 3,519,218 (GRCm39)	V100D	probably damaging	Het
Zim1	G	C	7: 6,680,771 (GRCm39)	H297Q	probably damaging	Het

Other mutations in Mansc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00519:Mansc1	APN	6	134,587,769 (GRCm39)	missense	possibly damaging	0.88
IGL01141:Mansc1	APN	6	134,598,748 (GRCm39)	missense	probably benign	0.21
IGL01447:Mansc1	APN	6	134,594,289 (GRCm39)	missense	probably damaging	0.96
IGL01582:Mansc1	APN	6	134,598,836 (GRCm39)	missense	possibly damaging	0.95
IGL02121:Mansc1	APN	6	134,598,800 (GRCm39)	missense	probably damaging	1.00
IGL02214:Mansc1	APN	6	134,587,323 (GRCm39)	missense	probably benign	0.39
IGL02466:Mansc1	APN	6	134,587,814 (GRCm39)	missense	probably damaging	1.00
IGL02699:Mansc1	APN	6	134,587,317 (GRCm39)	missense	probably benign	0.34
R0266:Mansc1	UTSW	6	134,587,670 (GRCm39)	missense	probably benign	0.08
R0730:Mansc1	UTSW	6	134,594,424 (GRCm39)	splice site	probably benign
R0849:Mansc1	UTSW	6	134,587,670 (GRCm39)	missense	probably benign	0.08
R2015:Mansc1	UTSW	6	134,587,274 (GRCm39)	missense	possibly damaging	0.77
R3874:Mansc1	UTSW	6	134,587,146 (GRCm39)	missense	possibly damaging	0.62
R4886:Mansc1	UTSW	6	134,587,625 (GRCm39)	missense	probably benign	0.01
R5864:Mansc1	UTSW	6	134,587,816 (GRCm39)	critical splice acceptor site	probably null
R5932:Mansc1	UTSW	6	134,587,478 (GRCm39)	missense	possibly damaging	0.69
R7233:Mansc1	UTSW	6	134,598,806 (GRCm39)	missense	probably damaging	0.98
R7576:Mansc1	UTSW	6	134,587,674 (GRCm39)	missense	possibly damaging	0.87
R7858:Mansc1	UTSW	6	134,587,377 (GRCm39)	missense	probably benign	0.23
R7981:Mansc1	UTSW	6	134,587,274 (GRCm39)	missense	possibly damaging	0.77
R8775:Mansc1	UTSW	6	134,587,631 (GRCm39)	missense	probably benign	0.10
R8775-TAIL:Mansc1	UTSW	6	134,587,631 (GRCm39)	missense	probably benign	0.10
R9130:Mansc1	UTSW	6	134,586,951 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TCAAGATACAGTTCCTGCTGAG -3'
(R):5'- CTCTACGCTGACTTCAGACC -3'

Sequencing Primer
(F):5'- ATACAGTTCCTGCTGAGACCGG -3'
(R):5'- TGACTTCAGACCCGAGGCAC -3'

Posted On

2022-11-14