Mutagenetix > Incidental Mutation

Incidental Mutation 'R5077:Gm10800'

458193

Institutional Source

Beutler Lab

Gene Symbol

Gm10800

Ensembl Gene

ENSMUSG00000075014

Gene Name

predicted gene 10800

Synonyms

MMRRC Submission

042666-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.285) question?

Stock #

R5077 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

98496892-98497646 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 98497379 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Methionine at position 80 (L80M)

Ref Sequence

ENSEMBL: ENSMUSP00000097275 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099683] [ENSMUST00000099684]

AlphaFold

D3Z496

Predicted Effect

probably benign
Transcript: ENSMUST00000099683
AA Change: L80M

PolyPhen 2 Score 0.014 (Sensitivity: 0.96; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000097275
Gene: ENSMUSG00000075014
AA Change: L80M

Domain	Start	End	E-Value	Type
internal_repeat_1	1	41	1.13e-5	PROSPERO
internal_repeat_2	26	49	4.11e-5	PROSPERO
transmembrane domain	78	96	N/A	INTRINSIC
internal_repeat_1	114	174	1.13e-5	PROSPERO
low complexity region	177	188	N/A	INTRINSIC
internal_repeat_2	197	219	4.11e-5	PROSPERO

Predicted Effect

probably benign
Transcript: ENSMUST00000099684

SMART Domains

Protein: ENSMUSP00000097276
Gene: ENSMUSG00000075015

Domain	Start	End	E-Value	Type
internal_repeat_1	2	73	1.19e-13	PROSPERO
internal_repeat_1	80	167	1.19e-13	PROSPERO

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

93% (51/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	A	G	8: 44,080,200 (GRCm39)	V8A	possibly damaging	Het
Agbl4	A	T	4: 111,423,939 (GRCm39)	M322L	probably benign	Het
Ankrd55	A	G	13: 112,492,522 (GRCm39)	K231R	probably benign	Het
Asap1	A	C	15: 63,999,272 (GRCm39)	M534R	probably damaging	Het
B4galnt2	T	A	11: 95,767,140 (GRCm39)		probably benign	Het
Cacna1e	A	T	1: 154,437,475 (GRCm39)		probably null	Het
Cacna1h	T	C	17: 25,594,224 (GRCm39)	I2311M	probably benign	Het
Capn2	G	T	1: 182,300,138 (GRCm39)	D617E	possibly damaging	Het
Catsper1	A	G	19: 5,385,998 (GRCm39)	D77G	probably damaging	Het
Cdc42bpa	A	T	1: 179,922,098 (GRCm39)		probably benign	Het
Cdca8	T	C	4: 124,820,470 (GRCm39)	K109E	probably damaging	Het
Dbx1	A	G	7: 49,283,242 (GRCm39)	S223P	probably damaging	Het
Dlg4	A	G	11: 69,917,852 (GRCm39)	N45S	possibly damaging	Het
Dlgap2	T	G	8: 14,872,691 (GRCm39)	V723G	probably benign	Het
Efl1	C	A	7: 82,307,295 (GRCm39)	Q64K	probably damaging	Het
Eml1	T	A	12: 108,472,871 (GRCm39)		probably benign	Het
Fbxw16	A	G	9: 109,270,117 (GRCm39)		probably null	Het
H4c16	A	G	6: 136,781,113 (GRCm39)	Y89H	probably benign	Het
Insig2	A	T	1: 121,239,964 (GRCm39)	V112E	probably damaging	Het
Kcnip3	A	G	2: 127,307,797 (GRCm39)	S123P	probably damaging	Het
Map3k9	T	C	12: 81,780,851 (GRCm39)		probably null	Het
Myo16	T	C	8: 10,372,658 (GRCm39)	V119A	probably damaging	Het
Naa25	G	A	5: 121,562,639 (GRCm39)	V474M	probably benign	Het
Nckap1	A	T	2: 80,379,277 (GRCm39)	V219E	probably damaging	Het
Niban1	A	G	1: 151,590,274 (GRCm39)	I523V	probably benign	Het
Nrp1	G	T	8: 129,227,154 (GRCm39)		probably null	Het
Nsun4	A	T	4: 115,905,781 (GRCm39)	D58E	probably benign	Het
Obscn	G	T	11: 58,934,883 (GRCm39)	A5249D	probably damaging	Het
Or8k53	A	T	2: 86,177,683 (GRCm39)	H142Q	probably benign	Het
Osmr	A	T	15: 6,873,874 (GRCm39)	Y174*	probably null	Het
Pi4k2a	T	C	19: 42,108,275 (GRCm39)		probably null	Het
Pram1	C	T	17: 33,863,878 (GRCm39)	Q572*	probably null	Het
Prdm5	C	A	6: 65,756,158 (GRCm39)	T25K	probably damaging	Het
Psen1	T	C	12: 83,771,439 (GRCm39)	Y240H	probably damaging	Het
Pygl	C	T	12: 70,248,666 (GRCm39)	G318S	probably benign	Het
Rbck1	A	C	2: 152,160,371 (GRCm39)	M436R	probably benign	Het
Resf1	T	G	6: 149,227,528 (GRCm39)	S191R	probably benign	Het
Rmnd1	T	C	10: 4,377,488 (GRCm39)	N64D	possibly damaging	Het
Rsph4a	A	G	10: 33,784,275 (GRCm39)	D299G	probably damaging	Het
Sema4c	T	C	1: 36,590,812 (GRCm39)	S480G	probably benign	Het
Srp68	T	C	11: 116,136,638 (GRCm39)	D552G	probably damaging	Het
Syde2	G	T	3: 145,707,764 (GRCm39)	A568S	probably damaging	Het
Szrd1	G	T	4: 140,867,092 (GRCm39)		probably null	Het
Szt2	A	T	4: 118,226,813 (GRCm39)		probably null	Het
Tbc1d31	A	G	15: 57,818,797 (GRCm39)	E800G	probably benign	Het
Tmprss11d	C	A	5: 86,457,122 (GRCm39)		probably null	Het
Usp37	A	G	1: 74,480,720 (GRCm39)	V895A	probably damaging	Het
Vmn1r19	T	C	6: 57,382,026 (GRCm39)	I193T	probably benign	Het
Vmn2r102	T	C	17: 19,897,834 (GRCm39)	V283A	probably benign	Het
Vps13d	C	T	4: 144,814,811 (GRCm39)	G3180D	probably damaging	Het
Xirp2	A	C	2: 67,344,821 (GRCm39)	D2354A	probably benign	Het
Zc3h14	T	A	12: 98,723,465 (GRCm39)		probably null	Het

Other mutations in Gm10800

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01022:Gm10800	APN	2	98,497,576 (GRCm39)	unclassified	probably benign
BB012:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
FR4976:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
PIT4131001:Gm10800	UTSW	2	98,497,250 (GRCm39)	missense	probably benign
PIT4131001:Gm10800	UTSW	2	98,497,163 (GRCm39)	missense	probably benign
PIT4131001:Gm10800	UTSW	2	98,496,893 (GRCm39)	missense	probably benign	0.11
PIT4142001:Gm10800	UTSW	2	98,497,250 (GRCm39)	missense	probably benign
PIT4142001:Gm10800	UTSW	2	98,497,163 (GRCm39)	missense	probably benign
PIT4142001:Gm10800	UTSW	2	98,496,893 (GRCm39)	missense	probably benign	0.11
PIT4142001:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
PIT4402001:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
PIT4498001:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
R0025:Gm10800	UTSW	2	98,496,925 (GRCm39)	missense	probably benign	0.05
R5687:Gm10800	UTSW	2	98,496,965 (GRCm39)	missense	probably benign
R7146:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
R7206:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
R7619:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
R7930:Gm10800	UTSW	2	98,497,379 (GRCm39)	unclassified	probably benign
R7931:Gm10800	UTSW	2	98,497,379 (GRCm39)	unclassified	probably benign
R7998:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
R8019:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
R8110:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
R8111:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
R8488:Gm10800	UTSW	2	98,497,379 (GRCm39)	unclassified	probably benign
R8509:Gm10800	UTSW	2	98,497,379 (GRCm39)	unclassified	probably benign
R8692:Gm10800	UTSW	2	98,497,379 (GRCm39)	unclassified	probably benign
R8722:Gm10800	UTSW	2	98,497,379 (GRCm39)	unclassified	probably benign
R8789:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
R8902:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
R8903:Gm10800	UTSW	2	98,497,361 (GRCm39)	frame shift	probably null
R8935:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null
R9104:Gm10800	UTSW	2	98,497,379 (GRCm39)	unclassified	probably benign
R9571:Gm10800	UTSW	2	98,497,378 (GRCm39)	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GTGAAATGCACACTGAAGGACC -3'
(R):5'- TGTGTGTACCTACTTTGGAAACAG -3'

Sequencing Primer
(F):5'- TGCACACTGAAGGACCTGGAATATG -3'
(R):5'- CAAGTCGTCAAGTGGATGTTTCTC -3'

Posted On

2017-02-24