Mutagenetix > Incidental Mutation

Incidental Mutation 'R1034:Gm1110'

95426

Institutional Source

Beutler Lab

Gene Symbol

Gm1110

Ensembl Gene

ENSMUSG00000079644

Gene Name

predicted gene 1110

Synonyms

LOC382064

MMRRC Submission

039133-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.069) question?

Stock #

R1034 (G1)

Quality Score

157

Status

Not validated

Chromosome

Chromosomal Location

26790863-26834407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26832646 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 16 (S16P)

Ref Sequence

ENSEMBL: ENSMUSP00000110916 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000115261]

AlphaFold

F6Y113

Predicted Effect

probably damaging
Transcript: ENSMUST00000115261
AA Change: S16P

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

SMART Domains

Protein: ENSMUSP00000110916
Gene: ENSMUSG00000079644
AA Change: S16P

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Glyco_hydro_35	55	368	2e-93	PFAM
Pfam:Glyco_hydro_42	70	229	1e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214461

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217197

Coding Region Coverage

1x: 98.7%
3x: 97.3%
10x: 92.9%
20x: 82.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	G	A	5: 77,024,130 (GRCm39)	T174M	probably damaging	Het
Abca14	T	C	7: 119,815,370 (GRCm39)	F206S	probably damaging	Het
Arid2	T	C	15: 96,267,386 (GRCm39)	V622A	probably benign	Het
Asic1	T	A	15: 99,595,939 (GRCm39)	L437Q	probably damaging	Het
Atp1b1	C	T	1: 164,281,057 (GRCm39)		probably null	Het
B3gnt5	A	G	16: 19,588,234 (GRCm39)	Y151C	probably damaging	Het
Cbx4	A	G	11: 118,972,533 (GRCm39)	S281P	probably damaging	Het
Dnah5	G	A	15: 28,302,617 (GRCm39)	V1625I	probably damaging	Het
Eftud2	A	C	11: 102,740,010 (GRCm39)	D461E	probably benign	Het
Epgn	A	G	5: 91,180,080 (GRCm39)	Y74C	probably damaging	Het
Fcho1	C	T	8: 72,165,204 (GRCm39)	A418T	probably benign	Het
Fgf14	C	T	14: 124,369,946 (GRCm39)	V113I	probably damaging	Het
Ggcx	G	A	6: 72,391,814 (GRCm39)	R68H	probably damaging	Het
Gm6729	T	C	10: 86,375,890 (GRCm39)		noncoding transcript	Het
Gpr108	A	G	17: 57,542,995 (GRCm39)	F522S	probably damaging	Het
Gpr156	T	C	16: 37,825,088 (GRCm39)	V435A	probably benign	Het
Khdrbs2	T	C	1: 32,506,872 (GRCm39)	L172P	probably damaging	Het
Kmo	C	T	1: 175,479,184 (GRCm39)	P240L	possibly damaging	Het
Ltn1	A	T	16: 87,194,025 (GRCm39)		probably null	Het
Nbeal1	T	A	1: 60,329,165 (GRCm39)	Y2194*	probably null	Het
Or6c8	T	A	10: 128,915,830 (GRCm39)	M1L	probably benign	Het
Or7d11	A	T	9: 19,966,661 (GRCm39)	S33T	probably benign	Het
Rab6b	T	C	9: 103,044,323 (GRCm39)	S172P	probably benign	Het
Ror1	T	A	4: 100,190,817 (GRCm39)	L58*	probably null	Het
Sec23b	A	G	2: 144,432,258 (GRCm39)	D756G	possibly damaging	Het
Slc24a2	T	A	4: 86,950,512 (GRCm39)	K428N	probably damaging	Het
Spen	C	A	4: 141,203,063 (GRCm39)	V1855L	probably benign	Het
Srgap1	G	A	10: 121,621,350 (GRCm39)	P1071S	possibly damaging	Het
Tns1	A	G	1: 73,981,128 (GRCm39)	C1079R	probably damaging	Het
Traf3ip1	G	T	1: 91,446,041 (GRCm39)		probably null	Het
Trmt2a	T	C	16: 18,067,573 (GRCm39)	F82S	probably damaging	Het
Xrn1	A	G	9: 95,921,790 (GRCm39)	D1401G	probably damaging	Het
Zfp352	T	A	4: 90,112,393 (GRCm39)	S178T	possibly damaging	Het
Zfp758	G	T	17: 22,594,740 (GRCm39)	E409*	probably null	Het

Other mutations in Gm1110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Gm1110	APN	9	26,792,170 (GRCm39)	nonsense	probably null
IGL01089:Gm1110	APN	9	26,793,156 (GRCm39)	missense	probably benign
IGL01631:Gm1110	APN	9	26,809,212 (GRCm39)	critical splice donor site	probably null
IGL02008:Gm1110	APN	9	26,794,526 (GRCm39)	missense	probably benign	0.09
IGL02331:Gm1110	APN	9	26,824,583 (GRCm39)	critical splice donor site	probably null
IGL02335:Gm1110	APN	9	26,793,059 (GRCm39)	missense	probably benign	0.00
IGL02550:Gm1110	APN	9	26,793,130 (GRCm39)	missense	probably benign	0.09
IGL02614:Gm1110	APN	9	26,832,010 (GRCm39)	missense	probably benign	0.11
IGL03409:Gm1110	APN	9	26,807,916 (GRCm39)	missense	probably benign	0.21
PIT4458001:Gm1110	UTSW	9	26,792,124 (GRCm39)	missense	probably benign	0.00
R0189:Gm1110	UTSW	9	26,794,514 (GRCm39)	missense	probably null	0.99
R0271:Gm1110	UTSW	9	26,831,962 (GRCm39)	missense	probably damaging	1.00
R1229:Gm1110	UTSW	9	26,793,102 (GRCm39)	missense	probably benign
R1355:Gm1110	UTSW	9	26,795,057 (GRCm39)	missense	probably benign	0.01
R1566:Gm1110	UTSW	9	26,792,166 (GRCm39)	missense	probably damaging	1.00
R1574:Gm1110	UTSW	9	26,792,422 (GRCm39)	splice site	probably benign
R1916:Gm1110	UTSW	9	26,800,934 (GRCm39)	missense	probably damaging	1.00
R2011:Gm1110	UTSW	9	26,805,554 (GRCm39)	missense	probably benign	0.01
R2214:Gm1110	UTSW	9	26,813,786 (GRCm39)	missense	probably benign	0.37
R2567:Gm1110	UTSW	9	26,831,992 (GRCm39)	missense	probably benign
R2967:Gm1110	UTSW	9	26,792,339 (GRCm39)	missense	probably benign	0.05
R4271:Gm1110	UTSW	9	26,806,944 (GRCm39)	critical splice donor site	probably null
R4683:Gm1110	UTSW	9	26,831,890 (GRCm39)	missense	probably damaging	0.99
R4945:Gm1110	UTSW	9	26,831,891 (GRCm39)	missense	possibly damaging	0.46
R5015:Gm1110	UTSW	9	26,793,162 (GRCm39)	missense	probably benign	0.01
R5089:Gm1110	UTSW	9	26,793,683 (GRCm39)	missense	probably damaging	0.96
R5225:Gm1110	UTSW	9	26,813,774 (GRCm39)	missense	probably damaging	1.00
R5239:Gm1110	UTSW	9	26,804,866 (GRCm39)	missense	probably benign	0.00
R5395:Gm1110	UTSW	9	26,800,928 (GRCm39)	missense	probably benign
R5783:Gm1110	UTSW	9	26,793,632 (GRCm39)	missense	probably benign
R6045:Gm1110	UTSW	9	26,794,505 (GRCm39)	critical splice donor site	probably null
R6245:Gm1110	UTSW	9	26,832,043 (GRCm39)	missense	probably benign	0.04
R6357:Gm1110	UTSW	9	26,825,424 (GRCm39)	splice site	probably null
R6863:Gm1110	UTSW	9	26,792,360 (GRCm39)	missense	probably damaging	1.00
R7336:Gm1110	UTSW	9	26,825,653 (GRCm39)	missense	probably damaging	0.99
R7454:Gm1110	UTSW	9	26,831,945 (GRCm39)	missense	probably benign
R7555:Gm1110	UTSW	9	26,804,924 (GRCm39)	missense	probably benign	0.05
R7579:Gm1110	UTSW	9	26,795,122 (GRCm39)	missense	possibly damaging	0.93
R7990:Gm1110	UTSW	9	26,792,137 (GRCm39)	missense	possibly damaging	0.66
R8062:Gm1110	UTSW	9	26,793,117 (GRCm39)	missense	probably damaging	0.99
R8108:Gm1110	UTSW	9	26,831,957 (GRCm39)	missense	probably damaging	1.00
R8323:Gm1110	UTSW	9	26,813,719 (GRCm39)	critical splice donor site	probably null
R8354:Gm1110	UTSW	9	26,794,577 (GRCm39)	missense	probably benign	0.00
R8354:Gm1110	UTSW	9	26,794,576 (GRCm39)	missense	probably benign	0.01
R8454:Gm1110	UTSW	9	26,794,577 (GRCm39)	missense	probably benign	0.00
R8454:Gm1110	UTSW	9	26,794,576 (GRCm39)	missense	probably benign	0.01
R8494:Gm1110	UTSW	9	26,792,154 (GRCm39)	missense	probably benign	0.04
R8978:Gm1110	UTSW	9	26,807,095 (GRCm39)	splice site	probably benign
R9321:Gm1110	UTSW	9	26,831,891 (GRCm39)	missense	probably benign	0.00
R9513:Gm1110	UTSW	9	26,795,083 (GRCm39)	missense	possibly damaging	0.95
R9545:Gm1110	UTSW	9	26,800,977 (GRCm39)	missense	probably benign	0.00
R9758:Gm1110	UTSW	9	26,800,894 (GRCm39)	nonsense	probably null
RF002:Gm1110	UTSW	9	26,831,936 (GRCm39)	missense	probably damaging	1.00
X0063:Gm1110	UTSW	9	26,805,576 (GRCm39)	missense	probably benign	0.01
Z1088:Gm1110	UTSW	9	26,824,606 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCAAGGTCAGCCTCAGATGCAAAG -3'
(R):5'- AGCAATTCCTCCTCCAGTCAGCAG -3'

Sequencing Primer
(F):5'- agggaaaggaaaagaaagaaagag -3'
(R):5'- TAGGAACAAATTCTGCTTTCCCAAC -3'

Posted On

2014-01-05