Mutagenetix > Incidental Mutation

Incidental Mutation 'R7901:Gm5145'

610022

Institutional Source

Beutler Lab

Gene Symbol

Gm5145

Ensembl Gene

ENSMUSG00000071273

Gene Name

predicted pseudogene 5145

Synonyms

MMRRC Submission

045953-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.934) question?

Stock #

R7901 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20790631-20791460 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 20790900 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 93 (I93L)

Ref Sequence

ENSEMBL: ENSMUSP00000093293 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095633] [ENSMUST00000169559]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095633
AA Change: I93L

PolyPhen 2 Score 0.861 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000093293
Gene: ENSMUSG00000071273
AA Change: I93L

Domain	Start	End	E-Value	Type
RRM	17	84	5.29e-5	SMART
low complexity region	101	113	N/A	INTRINSIC
low complexity region	119	130	N/A	INTRINSIC
low complexity region	160	175	N/A	INTRINSIC
low complexity region	179	199	N/A	INTRINSIC
RRM	207	274	1.55e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000169559

SMART Domains

Protein: ENSMUSP00000129347
Gene: ENSMUSG00000091259

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:ANF_receptor	83	467	3.1e-33	PFAM
Pfam:NCD3G	510	563	5.2e-22	PFAM
Pfam:7tm_3	594	831	4.2e-51	PFAM

Meta Mutation Damage Score

0.3253

Coding Region Coverage

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

Validation Efficiency

98% (56/57)

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	T	19: 57,119,434 (GRCm39)		probably null	Het
Adpgk	T	C	9: 59,222,300 (GRCm39)	V409A	probably benign	Het
Agfg2	A	T	5: 137,665,966 (GRCm39)	F98I	probably damaging	Het
Arhgap17	A	T	7: 122,885,791 (GRCm39)		probably benign	Het
Asb8	T	C	15: 98,040,614 (GRCm39)	Y16C	probably damaging	Het
Atp6v0a2	C	T	5: 124,779,485 (GRCm39)	T200I	probably damaging	Het
C1ra	G	A	6: 124,494,684 (GRCm39)	E316K	probably benign	Het
Ccnt1	A	T	15: 98,441,797 (GRCm39)	D490E	probably benign	Het
Cenpf	G	T	1: 189,389,445 (GRCm39)	D1462E	probably damaging	Het
Clcn6	C	T	4: 148,095,202 (GRCm39)	R736H	probably damaging	Het
Col4a2	A	T	8: 11,479,358 (GRCm39)	D747V	probably benign	Het
Cplane1	A	G	15: 8,299,190 (GRCm39)	E3126G	unknown	Het
Crybg3	T	C	16: 59,377,907 (GRCm39)	T1116A	probably damaging	Het
Csf1r	T	A	18: 61,243,368 (GRCm39)	L128Q	probably damaging	Het
Ddx17	A	T	15: 79,422,789 (GRCm39)	D316E	probably damaging	Het
Ect2l	T	A	10: 18,017,712 (GRCm39)	D681V	possibly damaging	Het
Ell2	A	T	13: 75,912,105 (GRCm39)	K464*	probably null	Het
Eme1	G	T	11: 94,541,645 (GRCm39)	P59Q	probably damaging	Het
Etl4	T	C	2: 20,294,821 (GRCm39)	S2P	possibly damaging	Het
Fndc9	T	C	11: 46,128,576 (GRCm39)	Y32H	probably damaging	Het
Frem1	G	T	4: 82,877,614 (GRCm39)	T1321K	probably benign	Het
Gabrg2	A	G	11: 41,867,418 (GRCm39)	V67A	probably benign	Het
Gm4553	ACAGCAGCTGGACTGACAGCAGCAGGGCTTGCAACAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	ACAGCAGCTGGACTGGCAGCAGCAGGGCTTGCAGCAGCTGGACTGGCAGCAG	7: 141,718,602 (GRCm39)		probably benign	Het
Gpld1	T	A	13: 25,146,758 (GRCm39)	V240E	probably damaging	Het
Gsc	T	A	12: 104,439,131 (GRCm39)	S82C	possibly damaging	Het
H2-T10	C	T	17: 36,431,143 (GRCm39)	E173K	probably benign	Het
Ifi213	A	T	1: 173,394,784 (GRCm39)	S584T	probably benign	Het
Klk1b1	T	C	7: 43,620,669 (GRCm39)	I253T	probably damaging	Het
Klra4	A	G	6: 130,040,113 (GRCm39)	L53P	probably damaging	Het
Lct	A	G	1: 128,216,722 (GRCm39)	Y1697H	probably benign	Het
Mrs2	T	A	13: 25,202,549 (GRCm39)	D64V	possibly damaging	Het
Muc13	A	G	16: 33,636,211 (GRCm39)	Q565R	probably damaging	Het
Nlrp6	T	C	7: 140,507,353 (GRCm39)	V873A	possibly damaging	Het
Nup155	C	T	15: 8,145,926 (GRCm39)	P159L	possibly damaging	Het
Or10v1	A	T	19: 11,873,898 (GRCm39)	H171L	probably benign	Het
Or4m1	A	T	14: 50,557,573 (GRCm39)	S240T	probably damaging	Het
Or51a6	T	C	7: 102,604,887 (GRCm39)		probably null	Het
Phip	T	G	9: 82,772,203 (GRCm39)	M1115L	probably benign	Het
Ppip5k1	T	C	2: 121,142,390 (GRCm39)	Q1353R	probably damaging	Het
Ptprb	C	G	10: 116,205,333 (GRCm39)	P1896A	probably benign	Het
Rgl2	T	C	17: 34,154,799 (GRCm39)	L601P	possibly damaging	Het
Sash1	C	T	10: 8,656,328 (GRCm39)	W221*	probably null	Het
Skint1	A	C	4: 111,876,399 (GRCm39)	T107P	probably damaging	Het
Slc45a4	G	A	15: 73,477,621 (GRCm39)		probably benign	Het
Snx13	T	A	12: 35,150,624 (GRCm39)	D309E	probably benign	Het
Spcs1	A	G	14: 30,722,628 (GRCm39)	Y64H	probably benign	Het
Tep1	A	T	14: 51,064,308 (GRCm39)	Y2434N	possibly damaging	Het
Tnpo3	T	C	6: 29,568,990 (GRCm39)	E454G	possibly damaging	Het
Tsg101	G	T	7: 46,563,183 (GRCm39)	Q24K	probably benign	Het
Ttc6	C	T	12: 57,735,353 (GRCm39)	R1132W	probably damaging	Het
Unkl	T	C	17: 25,437,627 (GRCm39)	S200P	probably damaging	Het
Uts2r	G	A	11: 121,052,234 (GRCm39)	S366N	probably benign	Het
Wbp4	A	T	14: 79,709,845 (GRCm39)	V130E	probably damaging	Het
Zfp592	T	G	7: 80,674,469 (GRCm39)	S478A	probably benign	Het
Zfp664	A	T	5: 124,962,839 (GRCm39)	K78*	probably null	Het
Zfp738	A	T	13: 67,821,110 (GRCm39)	L79*	probably null	Het
Zfyve28	C	T	5: 34,382,326 (GRCm39)	R258Q	probably damaging	Het

Other mutations in Gm5145

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02350:Gm5145	APN	17	20,790,702 (GRCm39)	missense	probably damaging	1.00
IGL02357:Gm5145	APN	17	20,790,702 (GRCm39)	missense	probably damaging	1.00
IGL02587:Gm5145	APN	17	20,791,452 (GRCm39)	missense	probably damaging	1.00
R3159:Gm5145	UTSW	17	20,791,155 (GRCm39)	missense	probably benign	0.00
R3885:Gm5145	UTSW	17	20,791,272 (GRCm39)	missense	probably benign	0.30
R4151:Gm5145	UTSW	17	20,791,360 (GRCm39)	missense	probably damaging	1.00
R4583:Gm5145	UTSW	17	20,790,715 (GRCm39)	missense	probably benign	0.02
R4798:Gm5145	UTSW	17	20,790,810 (GRCm39)	missense	probably damaging	1.00
R7147:Gm5145	UTSW	17	20,791,323 (GRCm39)	missense	probably damaging	1.00
R7297:Gm5145	UTSW	17	20,790,993 (GRCm39)	missense	probably benign	0.00
R7627:Gm5145	UTSW	17	20,790,654 (GRCm39)	nonsense	probably null
R7670:Gm5145	UTSW	17	20,790,646 (GRCm39)	missense	probably benign	0.09
R7897:Gm5145	UTSW	17	20,790,967 (GRCm39)	missense	probably benign
R8336:Gm5145	UTSW	17	20,790,687 (GRCm39)	missense	probably damaging	1.00
R8492:Gm5145	UTSW	17	20,790,681 (GRCm39)	missense	probably damaging	1.00
R9030:Gm5145	UTSW	17	20,791,270 (GRCm39)	missense	probably benign	0.41
R9053:Gm5145	UTSW	17	20,791,194 (GRCm39)	missense	probably damaging	1.00
R9362:Gm5145	UTSW	17	20,791,342 (GRCm39)	missense	probably damaging	0.99
Z1177:Gm5145	UTSW	17	20,791,314 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGGATGAGCTCAAGAAGTCCC -3'
(R):5'- TGTAGGGAGACTGTCCTAGC -3'

Sequencing Primer
(F):5'- TGAGCTCAAGAAGTCCCTGTATGC -3'
(R):5'- CCTAGCGTGTGATGCATGAC -3'

Posted On

2019-12-20