Mutagenetix > Incidental Mutation

Incidental Mutation 'R5833:Gm5157'

449404

Institutional Source

Beutler Lab

Gene Symbol

Gm5157

Ensembl Gene

ENSMUSG00000101436

Gene Name

predicted gene 5157

Synonyms

MMRRC Submission

043221-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5833 (G1)

Quality Score

158

Status

Not validated

Chromosome

Chromosomal Location

20918485-20919541 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 20919318 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 75 (M75T)

Ref Sequence

ENSEMBL: ENSMUSP00000140639 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000185914]

AlphaFold

A0A087WRH8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000185914
AA Change: M75T

PolyPhen 2 Score 0.923 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000140639
Gene: ENSMUSG00000101436
AA Change: M75T

Domain	Start	End	E-Value	Type
S_TKc	27	275	5.5e-90	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000207539

Coding Region Coverage

1x: 99.8%
3x: 99.2%
10x: 95.7%
20x: 84.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,376,349 (GRCm39)	V173M	probably damaging	Het
Abcb4	T	C	5: 9,008,314 (GRCm39)	Y1161H	probably damaging	Het
Adcy2	T	A	13: 68,886,722 (GRCm39)	M276L	probably benign	Het
Adi1	A	G	12: 28,731,041 (GRCm39)	D166G	probably benign	Het
Arhgap44	T	G	11: 64,929,503 (GRCm39)	E267A	probably damaging	Het
Arl11	T	A	14: 61,548,511 (GRCm39)	L107Q	probably damaging	Het
C1qtnf3	A	G	15: 10,975,716 (GRCm39)	D247G	probably benign	Het
C4b	T	C	17: 34,949,647 (GRCm39)	D1481G	probably damaging	Het
Cacna1a	T	C	8: 85,245,326 (GRCm39)	F242L	probably damaging	Het
Ccnl1	T	C	3: 65,855,922 (GRCm39)	K298E	probably benign	Het
Dcaf5	A	G	12: 80,395,203 (GRCm39)	V322A	probably damaging	Het
Ddr2	T	C	1: 169,832,265 (GRCm39)	N175S	probably benign	Het
Enox1	T	A	14: 77,744,379 (GRCm39)	M21K	probably benign	Het
Fhad1	T	C	4: 141,729,838 (GRCm39)	D55G	probably damaging	Het
Gm6309	A	G	5: 146,105,128 (GRCm39)	S262P	probably damaging	Het
Gpnmb	T	C	6: 49,020,952 (GRCm39)	L82P	probably damaging	Het
Hyls1	G	A	9: 35,472,480 (GRCm39)	S312F	probably benign	Het
Iqgap2	C	T	13: 95,811,880 (GRCm39)	R707H	probably damaging	Het
Itpripl2	A	C	7: 118,089,194 (GRCm39)	V455G	probably benign	Het
Kif16b	A	G	2: 142,549,287 (GRCm39)	V1087A	probably benign	Het
Med12l	A	G	3: 59,172,647 (GRCm39)	D1801G	possibly damaging	Het
Mep1a	G	A	17: 43,789,055 (GRCm39)	H574Y	probably benign	Het
Mtmr4	T	A	11: 87,495,875 (GRCm39)	Y570*	probably null	Het
Osbpl1a	G	T	18: 12,921,419 (GRCm39)	N128K	probably damaging	Het
Pcdhb5	T	A	18: 37,454,155 (GRCm39)	H178Q	probably damaging	Het
Pdlim1	A	T	19: 40,218,989 (GRCm39)	F214Y	probably damaging	Het
Qki	A	T	17: 10,435,316 (GRCm39)	L236H	probably damaging	Het
Rexo2	G	T	9: 48,380,171 (GRCm39)	D220E	probably benign	Het
Rras	A	G	7: 44,670,715 (GRCm39)	E195G	possibly damaging	Het
Serpinb11	T	C	1: 107,305,392 (GRCm39)		probably null	Het
Sp1	T	A	15: 102,339,352 (GRCm39)	M430K	possibly damaging	Het
Tardbp	A	C	4: 148,702,117 (GRCm39)	V86G	probably damaging	Het
Trim43c	A	G	9: 88,725,090 (GRCm39)	Q203R	possibly damaging	Het
Vmn1r232	A	G	17: 21,133,913 (GRCm39)	L229P	probably damaging	Het

Other mutations in Gm5157

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4280001:Gm5157	UTSW	7	20,919,007 (GRCm39)	missense	probably damaging	0.98
R5992:Gm5157	UTSW	7	20,919,346 (GRCm39)	missense	probably damaging	1.00
R7889:Gm5157	UTSW	7	20,918,641 (GRCm39)	missense	unknown
R8940:Gm5157	UTSW	7	20,918,685 (GRCm39)	missense	probably damaging	1.00
R9322:Gm5157	UTSW	7	20,919,431 (GRCm39)	missense	probably benign
R9626:Gm5157	UTSW	7	20,919,396 (GRCm39)	missense	probably damaging	1.00
Z1177:Gm5157	UTSW	7	20,919,241 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- ACCGCATGTACTATCTGGGC -3'
(R):5'- CTGATGATGGAGCAGGATCTG -3'

Sequencing Primer
(F):5'- GCAAACAGCCTTCGAGTCTTG -3'
(R):5'- GATCTGAAGGCCTGCTACTCAATTG -3'

Posted On

2016-12-20