Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01936:Gm10093'

180708

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm10093

Ensembl Gene

ENSMUSG00000061062

Gene Name

predicted pseudogene 10093

Synonyms

EG15181

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

IGL01936

Quality Score

Status

Chromosome

Chromosomal Location

78491565-78493541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78492129 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 183 (V183A)

Ref Sequence

ENSEMBL: ENSMUSP00000078339 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000079363]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000079363
AA Change: V183A

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: V183A

Domain	Start	End	E-Value	Type
Pfam:Hist_deacetyl	18	320	3.2e-84	PFAM
low complexity region	390	402	N/A	INTRINSIC
low complexity region	417	430	N/A	INTRINSIC
low complexity region	443	471	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts3	T	A	5: 89,861,423 (GRCm38)	H127L	probably benign	Het
Adamtsl3	T	C	7: 82,595,371 (GRCm38)	V419A	possibly damaging	Het
Arhgap31	T	A	16: 38,602,925 (GRCm38)	L926F	probably damaging	Het
Asgr2	A	T	11: 70,098,051 (GRCm38)		probably null	Het
C3ar1	T	A	6: 122,851,235 (GRCm38)	T8S	probably benign	Het
Caskin2	T	C	11: 115,804,717 (GRCm38)	I273V	probably damaging	Het
Ccnl2	T	A	4: 155,820,399 (GRCm38)	C242S	probably damaging	Het
Cdkn2a	A	T	4: 89,294,332 (GRCm38)		probably null	Het
Cfap45	T	G	1: 172,534,049 (GRCm38)	M231R	probably damaging	Het
Clcn7	A	C	17: 25,155,376 (GRCm38)	N464H	probably benign	Het
Col20a1	T	A	2: 181,009,368 (GRCm38)		probably benign	Het
Col7a1	T	A	9: 108,967,999 (GRCm38)		probably benign	Het
Cops7a	T	C	6: 124,962,416 (GRCm38)	D90G	probably benign	Het
Ctcf	T	C	8: 105,670,232 (GRCm38)	V363A	probably benign	Het
Cyp2j12	A	G	4: 96,133,069 (GRCm38)	V100A	probably benign	Het
Dcaf1	T	A	9: 106,859,601 (GRCm38)	F1085Y	possibly damaging	Het
Drc7	T	A	8: 95,074,132 (GRCm38)	F594Y	possibly damaging	Het
Ehbp1l1	C	A	19: 5,718,249 (GRCm38)	E1009*	probably null	Het
Epg5	C	A	18: 77,985,101 (GRCm38)	R1286S	probably damaging	Het
Etv1	T	C	12: 38,835,061 (GRCm38)		probably benign	Het
Exosc7	T	C	9: 123,135,891 (GRCm38)		probably benign	Het
Fam227a	T	C	15: 79,612,546 (GRCm38)	D610G	possibly damaging	Het
Fat4	T	A	3: 38,979,774 (GRCm38)	M2525K	probably benign	Het
Gimap5	G	T	6: 48,753,065 (GRCm38)	A190S	probably damaging	Het
Glcci1	T	A	6: 8,579,596 (GRCm38)	S79T	probably damaging	Het
Gpnmb	C	T	6: 49,047,450 (GRCm38)	T233I	probably null	Het
Hyls1	T	C	9: 35,562,067 (GRCm38)	I18V	probably benign	Het
Ighv1-63	C	T	12: 115,495,654 (GRCm38)	E108K	probably damaging	Het
Ighv5-12	C	A	12: 113,702,307 (GRCm38)	R57L	probably damaging	Het
Igkv5-37	T	C	6: 69,963,339 (GRCm38)	Y107C	probably damaging	Het
Il20ra	T	A	10: 19,755,843 (GRCm38)	V264D	probably damaging	Het
Jph1	A	T	1: 17,097,384 (GRCm38)	V74E	probably damaging	Het
Kcnab1	C	T	3: 65,358,274 (GRCm38)	L280F	probably damaging	Het
Kcnk1	T	C	8: 126,025,087 (GRCm38)	F144S	probably damaging	Het
Kcnq1	G	A	7: 143,184,504 (GRCm38)	E294K	possibly damaging	Het
Kdm4b	T	A	17: 56,397,355 (GRCm38)	V813E	probably damaging	Het
Kntc1	T	A	5: 123,811,376 (GRCm38)	F1937I	probably damaging	Het
Ldb2	G	A	5: 44,480,244 (GRCm38)	R241W	probably damaging	Het
Lgr5	T	C	10: 115,452,414 (GRCm38)	N703S	probably damaging	Het
Map4k1	A	T	7: 28,988,607 (GRCm38)	M227L	possibly damaging	Het
Mbnl1	T	A	3: 60,613,519 (GRCm38)	M268K	possibly damaging	Het
Mcm2	C	A	6: 88,891,726 (GRCm38)	G350C	probably damaging	Het
Myh2	A	T	11: 67,191,773 (GRCm38)	T1390S	possibly damaging	Het
Npat	T	A	9: 53,558,226 (GRCm38)		probably benign	Het
Nr2e1	T	A	10: 42,567,973 (GRCm38)	D251V	possibly damaging	Het
Olfr1425	C	T	19: 12,074,057 (GRCm38)	V192I	probably benign	Het
Olfr1461	C	A	19: 13,165,403 (GRCm38)	P130T	probably damaging	Het
Olfr54	A	G	11: 51,027,335 (GRCm38)	N111S	probably benign	Het
Plekha5	T	A	6: 140,524,895 (GRCm38)	H87Q	probably damaging	Het
Polr3a	A	G	14: 24,479,188 (GRCm38)	V368A	probably damaging	Het
Psmb8	T	A	17: 34,200,194 (GRCm38)	L154Q	probably damaging	Het
Rab40c	A	C	17: 25,884,670 (GRCm38)	C140G	probably damaging	Het
Ranbp17	G	A	11: 33,487,689 (GRCm38)	T183I	probably benign	Het
Ruvbl2	T	C	7: 45,428,698 (GRCm38)	E117G	probably damaging	Het
Serpinb3b	T	A	1: 107,154,638 (GRCm38)	M299L	probably benign	Het
Smpdl3a	A	G	10: 57,802,434 (GRCm38)	H111R	probably damaging	Het
Sspo	C	A	6: 48,475,887 (GRCm38)	P2843H	probably damaging	Het
Stk39	T	C	2: 68,314,564 (GRCm38)	T389A	probably benign	Het
Synrg	T	A	11: 84,019,705 (GRCm38)	F1000Y	probably benign	Het
Thbs2	C	T	17: 14,687,814 (GRCm38)	S229N	probably benign	Het
Thsd1	G	A	8: 22,252,231 (GRCm38)	C305Y	probably damaging	Het
Ticrr	C	A	7: 79,694,549 (GRCm38)	D1387E	probably benign	Het
Tmem145	G	T	7: 25,311,391 (GRCm38)	A383S	probably damaging	Het
Tmprss4	A	G	9: 45,179,420 (GRCm38)	V187A	probably damaging	Het
Unc13c	T	A	9: 73,693,242 (GRCm38)	M1407L	probably benign	Het
Vps39	C	T	2: 120,323,128 (GRCm38)	G655D	probably benign	Het
Wwtr1	T	C	3: 57,574,820 (GRCm38)		probably benign	Het
Xrn1	T	C	9: 96,048,344 (GRCm38)	S1535P	probably damaging	Het

Other mutations in Gm10093

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01983:Gm10093	APN	17	78,492,853 (GRCm38)	missense	probably benign
IGL02543:Gm10093	APN	17	78,491,874 (GRCm38)	missense	probably damaging	0.97
buttress	UTSW	17	78,492,914 (GRCm38)	missense	possibly damaging	0.91
Chartre	UTSW	17	78,492,540 (GRCm38)	missense	probably damaging	0.99
R1174:Gm10093	UTSW	17	78,492,078 (GRCm38)	missense	probably benign	0.01
R1605:Gm10093	UTSW	17	78,492,108 (GRCm38)	missense	probably damaging	0.98
R2416:Gm10093	UTSW	17	78,492,516 (GRCm38)	missense	probably damaging	1.00
R2919:Gm10093	UTSW	17	78,492,846 (GRCm38)	missense	probably damaging	0.98
R2920:Gm10093	UTSW	17	78,492,846 (GRCm38)	missense	probably damaging	0.98
R3846:Gm10093	UTSW	17	78,492,972 (GRCm38)	missense	possibly damaging	0.91
R4544:Gm10093	UTSW	17	78,492,959 (GRCm38)	missense	probably benign	0.02
R4546:Gm10093	UTSW	17	78,492,959 (GRCm38)	missense	probably benign	0.02
R5223:Gm10093	UTSW	17	78,492,438 (GRCm38)	missense	probably benign	0.02
R5297:Gm10093	UTSW	17	78,492,758 (GRCm38)	missense	probably benign
R6164:Gm10093	UTSW	17	78,492,287 (GRCm38)	missense	probably damaging	0.99
R6568:Gm10093	UTSW	17	78,492,588 (GRCm38)	missense	probably damaging	1.00
R6726:Gm10093	UTSW	17	78,492,858 (GRCm38)	missense	probably damaging	0.99
R6901:Gm10093	UTSW	17	78,492,660 (GRCm38)	missense	probably benign	0.07
R6923:Gm10093	UTSW	17	78,492,914 (GRCm38)	missense	possibly damaging	0.91
R7838:Gm10093	UTSW	17	78,492,018 (GRCm38)	missense	probably damaging	1.00
R8002:Gm10093	UTSW	17	78,492,287 (GRCm38)	missense	probably damaging	0.99
R8728:Gm10093	UTSW	17	78,492,903 (GRCm38)	missense	probably benign	0.01
R8821:Gm10093	UTSW	17	78,492,540 (GRCm38)	missense	probably damaging	0.99
R8920:Gm10093	UTSW	17	78,491,742 (GRCm38)	missense	probably benign	0.37
R9618:Gm10093	UTSW	17	78,491,685 (GRCm38)	missense	probably damaging	1.00
R9649:Gm10093	UTSW	17	78,491,646 (GRCm38)	missense	probably benign	0.03
X0060:Gm10093	UTSW	17	78,492,128 (GRCm38)	missense	probably damaging	0.99

Posted On

2014-05-07