Mutagenetix > Incidental Mutation

Incidental Mutation 'R1916:Gm1110'

214872

Institutional Source

Beutler Lab

Gene Symbol

Gm1110

Ensembl Gene

ENSMUSG00000079644

Gene Name

predicted gene 1110

Synonyms

LOC382064

MMRRC Submission

039934-MU

Accession Numbers

Essential gene?

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

Stock #

R1916 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26790863-26834407 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 26800934 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 420 (V420E)

Ref Sequence

ENSEMBL: ENSMUSP00000110916 (fasta)

Gene Model

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

AlphaFold

F6Y113

Predicted Effect

probably damaging
Transcript: ENSMUST00000115261
AA Change: V420E

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

SMART Domains

Protein: ENSMUSP00000110916
Gene: ENSMUSG00000079644
AA Change: V420E

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: ENSMUST00000214847

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217197

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.5%

Validation Efficiency

99% (97/98)

Allele List at MGI

Other mutations in this stock

Total: 88 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm2	A	G	3: 59,652,924 (GRCm39)	K121R	possibly damaging	Het
Abca13	G	T	11: 9,484,456 (GRCm39)	W4342L	probably damaging	Het
Abcg8	A	T	17: 84,995,958 (GRCm39)		probably null	Het
Acaa1b	A	G	9: 118,985,730 (GRCm39)	L65P	probably damaging	Het
Adam6a	G	T	12: 113,509,556 (GRCm39)	R643L	probably benign	Het
Agbl2	A	T	2: 90,645,785 (GRCm39)	R839S	possibly damaging	Het
Ambra1	A	T	2: 91,741,806 (GRCm39)	N967I	probably damaging	Het
Ankrd17	T	A	5: 90,408,000 (GRCm39)	N1406Y	probably damaging	Het
Armh4	T	C	14: 50,005,932 (GRCm39)	T588A	probably damaging	Het
Bbx	G	T	16: 50,086,608 (GRCm39)	S96Y	probably damaging	Het
Cdh12	T	A	15: 21,520,336 (GRCm39)		probably null	Het
Cdh9	A	C	15: 16,823,361 (GRCm39)	R114S	probably benign	Het
Cenpo	T	G	12: 4,266,683 (GRCm39)	I142L	probably benign	Het
Cfap69	T	C	5: 5,713,970 (GRCm39)	K21E	probably damaging	Het
Chmp4c	A	T	3: 10,454,996 (GRCm39)	D221V	probably benign	Het
Cstf3	T	A	2: 104,486,101 (GRCm39)	V447D	possibly damaging	Het
Cwc22	A	T	2: 77,735,819 (GRCm39)	C566S	probably benign	Het
Dgkh	A	G	14: 78,832,663 (GRCm39)	M798T	probably damaging	Het
Dnai2	T	C	11: 114,623,749 (GRCm39)	V4A	possibly damaging	Het
Dnai7	A	C	6: 145,121,926 (GRCm39)	V631G	probably benign	Het
Dnmbp	T	G	19: 43,890,007 (GRCm39)	I587L	possibly damaging	Het
Dock6	A	T	9: 21,724,387 (GRCm39)	M301K	probably damaging	Het
Dock8	T	C	19: 25,038,521 (GRCm39)	M69T	probably benign	Het
Ears2	T	C	7: 121,643,801 (GRCm39)	S386G	probably benign	Het
Ecsit	T	C	9: 21,983,817 (GRCm39)	I371V	probably benign	Het
Eif4a3	T	C	11: 119,184,737 (GRCm39)	I216V	probably benign	Het
Emp1	A	G	6: 135,357,128 (GRCm39)	I69V	probably damaging	Het
Epg5	A	G	18: 78,008,236 (GRCm39)	D788G	probably benign	Het
Eps15	A	G	4: 109,226,171 (GRCm39)	K324E	probably damaging	Het
Extl3	A	G	14: 65,315,071 (GRCm39)	F37S	probably benign	Het
Fam83g	A	G	11: 61,585,994 (GRCm39)	D194G	probably damaging	Het
Gcc2	A	G	10: 58,112,485 (GRCm39)	D1005G	probably damaging	Het
Gm10226	T	A	17: 21,910,916 (GRCm39)	H50Q	possibly damaging	Het
Gm16503	A	G	4: 147,625,667 (GRCm39)	R54G	unknown	Het
Grin3b	T	C	10: 79,810,432 (GRCm39)	M646T	probably damaging	Het
Grm8	T	C	6: 27,363,583 (GRCm39)	D644G	probably benign	Het
Gtf2i	C	A	5: 134,275,702 (GRCm39)	V660F	probably damaging	Het
Heatr4	G	T	12: 84,002,591 (GRCm39)	Q808K	probably benign	Het
Hif3a	T	C	7: 16,773,581 (GRCm39)	S573G	possibly damaging	Het
Htr2b	C	T	1: 86,027,523 (GRCm39)	V328M	probably damaging	Het
Jph1	T	C	1: 17,162,279 (GRCm39)	T128A	probably damaging	Het
Kcnt1	T	C	2: 25,790,481 (GRCm39)	V481A	probably damaging	Het
Khk	A	G	5: 31,087,962 (GRCm39)	Y212C	probably damaging	Het
Lgi2	T	A	5: 52,703,974 (GRCm39)	Q219L	probably benign	Het
Lipf	T	A	19: 33,943,075 (GRCm39)	Y128N	probably benign	Het
Lipg	A	G	18: 75,094,008 (GRCm39)	V13A	probably benign	Het
Lrrc8e	T	C	8: 4,285,202 (GRCm39)	S476P	probably benign	Het
Map2k7	T	G	8: 4,295,795 (GRCm39)	V425G	probably benign	Het
Mycbp2	A	T	14: 103,422,319 (GRCm39)	S2451R	probably damaging	Het
Mylk3	A	G	8: 86,053,821 (GRCm39)	S629P	probably damaging	Het
Nrp2	A	T	1: 62,801,906 (GRCm39)	I450F	probably damaging	Het
Or4c126	T	C	2: 89,824,148 (GRCm39)	V137A	probably benign	Het
Or8g50	A	G	9: 39,648,918 (GRCm39)	D269G	probably benign	Het
Osbpl11	T	C	16: 33,006,213 (GRCm39)	S14P	probably benign	Het
Osbpl11	T	A	16: 33,030,465 (GRCm39)	V231D	possibly damaging	Het
Parg	T	A	14: 31,930,184 (GRCm39)		probably benign	Het
Pax9	G	T	12: 56,743,923 (GRCm39)	R190L	possibly damaging	Het
Prss12	G	A	3: 123,300,144 (GRCm39)	V752I	probably benign	Het
Pstpip2	A	G	18: 77,922,892 (GRCm39)	N34S	probably damaging	Het
Rarg	T	C	15: 102,160,880 (GRCm39)	D53G	probably benign	Het
Rbak	T	C	5: 143,161,871 (GRCm39)	K53R	probably damaging	Het
Scgn	A	T	13: 24,162,808 (GRCm39)	S107R	probably damaging	Het
Sema3c	A	G	5: 17,932,399 (GRCm39)	Q634R	probably benign	Het
Serpinh1	A	G	7: 98,998,288 (GRCm39)	L114P	probably damaging	Het
Slc35f4	T	C	14: 49,541,380 (GRCm39)		probably benign	Het
Sned1	A	T	1: 93,201,884 (GRCm39)	I617F	probably null	Het
Spata31	C	T	13: 65,070,359 (GRCm39)	R836*	probably null	Het
Spen	A	G	4: 141,199,909 (GRCm39)	L2883P	probably damaging	Het
Stmn3	A	T	2: 180,949,073 (GRCm39)	M140K	possibly damaging	Het
Syn3	A	G	10: 86,190,208 (GRCm39)		probably null	Het
Tamalin	T	C	15: 101,124,850 (GRCm39)		probably benign	Het
Tor4a	A	G	2: 25,085,414 (GRCm39)	V163A	possibly damaging	Het
Ttc12	A	G	9: 49,371,698 (GRCm39)	Y189H	probably damaging	Het
Ubxn7	T	G	16: 32,200,577 (GRCm39)		probably benign	Het
Unc5b	G	A	10: 60,614,027 (GRCm39)	T274I	probably damaging	Het
Upk1b	C	A	16: 38,596,548 (GRCm39)		probably null	Het
Usp18	A	G	6: 121,245,513 (GRCm39)	I296M	probably benign	Het
Usp42	A	G	5: 143,700,811 (GRCm39)	Y1071H	probably damaging	Het
Vil1	A	G	1: 74,457,684 (GRCm39)	T106A	probably benign	Het
Vmn1r42	T	A	6: 89,821,949 (GRCm39)	I207F	probably benign	Het
Vmn1r63	A	G	7: 5,806,225 (GRCm39)	F136L	probably damaging	Het
Vopp1	C	T	6: 57,731,572 (GRCm39)	V140I	probably benign	Het
Wdhd1	T	C	14: 47,496,034 (GRCm39)	D610G	possibly damaging	Het
Wdr48	T	A	9: 119,741,483 (GRCm39)	D142E	probably benign	Het
Whrn	A	G	4: 63,412,969 (GRCm39)	Y10H	probably damaging	Het
Zmat3	A	G	3: 32,397,497 (GRCm39)	V216A	probably benign	Het
Zmym2	C	T	14: 57,197,299 (GRCm39)	R1356W	probably damaging	Het
Zyg11b	A	T	4: 108,129,480 (GRCm39)	L44Q	probably damaging	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
R1034:Gm1110	UTSW	9	26,832,646 (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
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'- GCACTTAGACATTTACCTCAGTATC -3'
(R):5'- ATACGAGATTGGTTGGAAAGCC -3'

Sequencing Primer
(F):5'- ATGTGATGAGGCCTCCA -3'
(R):5'- AACATGATTGTCCTTGTGTAGTCC -3'

Posted On

2014-07-14