Mutagenetix > Incidental Mutation

Incidental Mutation 'R9403:Gm5591'

711344

Institutional Source

Beutler Lab

Gene Symbol

Gm5591

Ensembl Gene

ENSMUSG00000060565

Gene Name

predicted gene 5591

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.170) question?

Stock #

R9403 (G1)

Quality Score

129.008

Status

Not validated

Chromosome

Chromosomal Location

38518139-38528193 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 38522256 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 130 (T130A)

Ref Sequence

ENSEMBL: ENSMUSP00000078695 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079759]

AlphaFold

Q8CDK1

Predicted Effect

probably damaging
Transcript: ENSMUST00000079759
AA Change: T130A

PolyPhen 2 Score 0.962 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000078695
Gene: ENSMUSG00000060565
AA Change: T130A

Domain	Start	End	E-Value	Type
low complexity region	319	330	N/A	INTRINSIC
Pfam:DUF4629	437	582	1.2e-59	PFAM
low complexity region	648	660	N/A	INTRINSIC
low complexity region	693	704	N/A	INTRINSIC
low complexity region	711	723	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000186462

Meta Mutation Damage Score

0.0686

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	T	G	6: 96,165,299	T255P	probably benign	Het
4930444G20Rik	C	T	10: 22,067,941	D47N	possibly damaging	Het
Angpt4	C	T	2: 151,938,972	T380M	probably damaging	Het
Apoa5	G	C	9: 46,270,646	R340P	probably damaging	Het
Cyp3a41a	T	A	5: 145,702,198	Y320F	probably damaging	Het
Dmtf1	A	G	5: 9,121,927	L503S	possibly damaging	Het
Dock1	T	C	7: 135,168,396	V1795A	probably benign	Het
Dpys	C	G	15: 39,828,071	W285S	probably damaging	Het
Fam187b	T	C	7: 30,977,090	V8A		Het
Fbn2	T	C	18: 58,066,107	E1363G	probably damaging	Het
Glg1	C	T	8: 111,187,793	R453Q	probably benign	Het
Gpld1	G	A	13: 24,979,729	V502I	probably benign	Het
Inhba	A	G	13: 16,017,381	H29R	probably benign	Het
Itga4	T	A	2: 79,325,660	I990N	possibly damaging	Het
Kcnma1	T	A	14: 23,543,077	I280L	probably benign	Het
Malrd1	T	C	2: 15,614,177	V284A		Het
Maml2	C	T	9: 13,621,673	Q728*	probably null	Het
Mkln1	T	C	6: 31,432,970	L181P	probably damaging	Het
Mms22l	T	C	4: 24,580,204		probably null	Het
Muc16	A	G	9: 18,537,764		probably null	Het
Mylk	C	A	16: 34,875,642	S249*	probably null	Het
Naa35	G	A	13: 59,601,003	A150T	possibly damaging	Het
Naip5	T	A	13: 100,219,830	E1092D	probably benign	Het
Nup205	G	A	6: 35,199,974	R635H	probably benign	Het
Olfr263	T	C	13: 21,133,695	F307L	probably benign	Het
Olfr723	T	C	14: 49,929,449	T32A	probably benign	Het
Padi3	T	C	4: 140,810,532	I26V	probably benign	Het
Polq	T	C	16: 37,061,853	S1460P	probably benign	Het
Ptgdr	A	G	14: 44,853,258	S348P		Het
Qsox1	A	G	1: 155,782,597	S409P	probably damaging	Het
Rergl	T	A	6: 139,494,854	Y99F	possibly damaging	Het
Rptn	C	A	3: 93,395,042	H22N	probably benign	Het
Sh2b1	TGGGGACCAGCTCAGCCACGGGGACCAGCTC	TGGGGACCAGCTCAGCCACGGGGACCAGCTCAGCCACGGGGACCAGCTC	7: 126,467,570		probably benign	Het
Sh2b1	GGACCAGCTCAG	GGACCAGCTCAGTCACGGTGACCAGCTCAG	7: 126,467,573		probably null	Het
Sh2b1	ACCAGCTCAGCCACGGGG	ACCAGCTCAGCCACGGGGCCCAGCTCAGCCACGGGG	7: 126,467,575		probably benign	Het
Slc2a3	A	C	6: 122,736,610	I214M	probably damaging	Het
Slc5a7	A	T	17: 54,276,641	N540K	probably benign	Het
Slco6c1	A	T	1: 97,062,523	S664R	possibly damaging	Het
Tgm4	C	A	9: 123,052,772	S344R	probably damaging	Het
Trim61	T	A	8: 65,014,576	Q11L	probably damaging	Het
Trpm6	C	A	19: 18,832,652	D1137E	possibly damaging	Het
Txndc2	G	A	17: 65,637,997	T395I	probably damaging	Het
Txndc9	T	C	1: 37,995,778	E15G	probably benign	Het
Vcpip1	A	G	1: 9,745,824	I778T	possibly damaging	Het
Zfp383	T	C	7: 29,915,259	F313S	possibly damaging	Het

Other mutations in Gm5591

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00990:Gm5591	APN	7	38520414	missense	probably benign	0.20
IGL02277:Gm5591	APN	7	38520432	missense	probably damaging	0.98
IGL02277:Gm5591	APN	7	38519038	missense	possibly damaging	0.92
IGL02503:Gm5591	APN	7	38520009	missense	probably damaging	1.00
IGL02897:Gm5591	APN	7	38520042	missense	probably damaging	1.00
IGL02899:Gm5591	APN	7	38519418	missense	probably damaging	1.00
R1599:Gm5591	UTSW	7	38520370	missense	probably benign
R2365:Gm5591	UTSW	7	38519401	missense	probably damaging	1.00
R3054:Gm5591	UTSW	7	38520634	missense	probably benign	0.35
R4619:Gm5591	UTSW	7	38520648	missense	probably benign	0.04
R4722:Gm5591	UTSW	7	38519148	missense	probably damaging	1.00
R4779:Gm5591	UTSW	7	38522256	missense	probably damaging	0.96
R5079:Gm5591	UTSW	7	38522136	missense	probably benign	0.01
R5237:Gm5591	UTSW	7	38522207	missense	probably benign	0.31
R5267:Gm5591	UTSW	7	38518914	missense	possibly damaging	0.94
R6337:Gm5591	UTSW	7	38521895	missense	probably benign	0.00
R6458:Gm5591	UTSW	7	38519035	missense	probably damaging	1.00
R6671:Gm5591	UTSW	7	38520099	missense	possibly damaging	0.71
R6709:Gm5591	UTSW	7	38522075	missense	probably benign	0.31
R6874:Gm5591	UTSW	7	38520291	missense	probably damaging	0.97
R6917:Gm5591	UTSW	7	38522190	missense	probably damaging	0.99
R6993:Gm5591	UTSW	7	38519223	missense	probably benign
R7446:Gm5591	UTSW	7	38519509	missense	probably benign	0.16
R7519:Gm5591	UTSW	7	38520670	missense	possibly damaging	0.70
R7596:Gm5591	UTSW	7	38520184	missense	probably benign
R7923:Gm5591	UTSW	7	38521914	missense	probably benign	0.13
R8003:Gm5591	UTSW	7	38519759	missense	probably damaging	0.96
R8027:Gm5591	UTSW	7	38522298	missense	probably damaging	0.99
R8058:Gm5591	UTSW	7	38518939	missense	probably benign	0.00
R8242:Gm5591	UTSW	7	38520322	missense	probably benign
R8719:Gm5591	UTSW	7	38522190	missense	probably benign	0.03
R8943:Gm5591	UTSW	7	38520303	missense	probably benign	0.21
R9228:Gm5591	UTSW	7	38528061	start codon destroyed	probably benign
R9314:Gm5591	UTSW	7	38522460	missense	probably benign	0.00
R9403:Gm5591	UTSW	7	38520148	missense	probably benign	0.00
R9424:Gm5591	UTSW	7	38520297	missense	probably damaging	1.00
RF052:Gm5591	UTSW	7	38522575	frame shift	probably null
RF062:Gm5591	UTSW	7	38522335	frame shift	probably null

Predicted Primers

PCR Primer
(F):5'- GACTGCAAACACTGTCCTAGTTC -3'
(R):5'- TTAACCCACATGCTGGCAAG -3'

Sequencing Primer
(F):5'- TATCAGACGGTCCAGGCAATTGTG -3'
(R):5'- TGGCAAGACCATGCTGG -3'

Posted On

2022-05-16