Mutagenetix > Incidental Mutation

Incidental Mutation 'R6164:Gm10093'

490075

Institutional Source

Beutler Lab

Gene Symbol

Gm10093

Ensembl Gene

ENSMUSG00000061062

Gene Name

predicted pseudogene 10093

Synonyms

EG15181

MMRRC Submission

044310-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.878) question?

Stock #

R6164 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

78491565-78493541 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 78492287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 236 (S236P)

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: S236P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000078339
Gene: ENSMUSG00000061062
AA Change: S236P

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

1x: 99.9%
3x: 99.6%
10x: 98.3%
20x: 95.3%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
6030419C18Rik	C	A	9: 58,499,247 (GRCm38)	P147T	probably damaging	Het
Anpep	A	G	7: 79,842,205 (GRCm38)	I16T	possibly damaging	Het
Ap1s1	T	C	5: 137,037,386 (GRCm38)		probably benign	Het
Atp1a2	T	C	1: 172,278,892 (GRCm38)	S848G	probably damaging	Het
Bche	T	A	3: 73,701,056 (GRCm38)	I346F	possibly damaging	Het
Ccdc148	T	A	2: 58,823,633 (GRCm38)	Y502F	probably damaging	Het
Ccdc88c	T	C	12: 100,953,383 (GRCm38)	M416V	probably damaging	Het
Cdk17	T	C	10: 93,235,469 (GRCm38)	S351P	probably benign	Het
Cfap100	T	C	6: 90,415,786 (GRCm38)	E114G	probably benign	Het
Clec4a4	T	C	6: 122,991,874 (GRCm38)	I66T	possibly damaging	Het
Cpeb4	T	C	11: 31,920,584 (GRCm38)		probably null	Het
Cybrd1	T	C	2: 71,118,274 (GRCm38)	V52A	probably damaging	Het
Decr1	G	A	4: 15,924,347 (GRCm38)	A191V	probably benign	Het
Dnah5	A	T	15: 28,378,343 (GRCm38)	I2942L	probably benign	Het
Ehd4	C	T	2: 120,102,208 (GRCm38)	V246I	possibly damaging	Het
Ercc6l2	A	G	13: 63,872,344 (GRCm38)		probably benign	Het
Exoc4	T	A	6: 33,332,283 (GRCm38)	M280K	probably damaging	Het
Fam122a	T	A	19: 24,477,086 (GRCm38)	M91L	probably benign	Het
Fam71e2	T	C	7: 4,770,678 (GRCm38)	T73A	probably damaging	Het
Fmo1	T	G	1: 162,851,410 (GRCm38)	E89A	probably benign	Het
Foxm1	A	G	6: 128,373,935 (GRCm38)	D733G	probably benign	Het
Gulp1	A	C	1: 44,754,351 (GRCm38)	R57S	probably damaging	Het
Hdac4	G	T	1: 92,030,154 (GRCm38)	A46E	probably benign	Het
Hspg2	T	C	4: 137,514,655 (GRCm38)	S567P	possibly damaging	Het
Iqgap1	A	C	7: 80,809,106 (GRCm38)	C21W	unknown	Het
Isoc2a	T	C	7: 4,891,489 (GRCm38)	L57P	probably damaging	Het
Krt34	G	A	11: 100,038,446 (GRCm38)	Q313*	probably null	Het
Krt6a	C	T	15: 101,692,573 (GRCm38)	V263I	probably damaging	Het
Man2a1	A	G	17: 64,733,724 (GRCm38)	I106V	possibly damaging	Het
Muc16	T	C	9: 18,558,379 (GRCm38)	D7300G	probably damaging	Het
Muc5b	A	T	7: 141,863,345 (GRCm38)	S3343C	possibly damaging	Het
Mup11	C	T	4: 60,662,240 (GRCm38)	E21K	possibly damaging	Het
Myo3b	T	A	2: 70,245,410 (GRCm38)		probably null	Het
Nlrp4c	T	C	7: 6,092,508 (GRCm38)	L795P	probably damaging	Het
Nup160	T	A	2: 90,717,876 (GRCm38)	Y984*	probably null	Het
Nwd1	C	T	8: 72,662,186 (GRCm38)	R81W	probably damaging	Het
Olfr472	A	G	7: 107,903,388 (GRCm38)	T224A	probably benign	Het
Olfr707	G	T	7: 106,891,928 (GRCm38)	Y60*	probably null	Het
Osmr	A	G	15: 6,860,352 (GRCm38)	V5A	probably benign	Het
Pcsk5	A	G	19: 17,836,953 (GRCm38)		probably null	Het
Pex11a	G	A	7: 79,737,379 (GRCm38)	T235M	probably damaging	Het
Pik3r6	A	G	11: 68,551,973 (GRCm38)	T730A	probably benign	Het
Ppp1r9a	C	T	6: 5,110,715 (GRCm38)		probably benign	Het
Ppp2r2d	T	C	7: 138,873,013 (GRCm38)	I41T	probably damaging	Het
Prdm1	C	T	10: 44,450,195 (GRCm38)	R126H	probably damaging	Het
Primpol	C	T	8: 46,586,442 (GRCm38)	R381H	probably benign	Het
Prl7a1	C	A	13: 27,637,643 (GRCm38)	Q102H	probably benign	Het
Rbpjl	T	C	2: 164,410,879 (GRCm38)	L284P	probably damaging	Het
Rgs21	A	T	1: 144,541,297 (GRCm38)	C6S	probably benign	Het
Rnasel	T	C	1: 153,754,392 (GRCm38)	V218A	probably benign	Het
Sag	G	T	1: 87,824,453 (GRCm38)	V223L	probably damaging	Het
Sdk1	C	T	5: 142,132,069 (GRCm38)	T1574M	probably damaging	Het
Secisbp2	G	A	13: 51,679,860 (GRCm38)	V679M	probably damaging	Het
Sele	T	A	1: 164,051,817 (GRCm38)		probably null	Het
Senp7	T	A	16: 56,169,754 (GRCm38)	L622M	probably damaging	Het
Sgo1	G	A	17: 53,676,953 (GRCm38)	R466C	probably damaging	Het
Sh3tc1	C	A	5: 35,706,246 (GRCm38)	V866L	probably benign	Het
Snrnp25	T	A	11: 32,207,647 (GRCm38)	V75D	probably benign	Het
Syne1	C	T	10: 5,061,429 (GRCm38)	C7899Y	probably damaging	Het
U2af1l4	T	C	7: 30,564,582 (GRCm38)	S55P	probably damaging	Het
Vmn1r23	A	G	6: 57,926,055 (GRCm38)	I246T	possibly damaging	Het
Vmn1r66	T	A	7: 10,274,402 (GRCm38)	R235*	probably null	Het
Wnk4	C	T	11: 101,275,068 (GRCm38)	A807V	possibly damaging	Het

Other mutations in Gm10093

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01936:Gm10093	APN	17	78,492,129 (GRCm38)	missense	probably damaging	1.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACTGCTAAAGTACCACCAGAGG -3'
(R):5'- GCATGGGCAAGTTGAAACTCTTC -3'

Sequencing Primer
(F):5'- GACATTGATATTCACCATGGCG -3'
(R):5'- GGGCAAGTTGAAACTCTTCACGAAC -3'

Posted On

2017-10-10