Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:Gm1110'

602567

Institutional Source

Beutler Lab

Gene Symbol

Gm1110

Ensembl Gene

ENSMUSG00000079644

Gene Name

predicted gene 1110

Synonyms

LOC382064

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

RF002 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

26879567-26923111 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 26920640 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 72 (Y72H)

Ref Sequence

ENSEMBL: ENSMUSP00000110916 (fasta)

Gene Model

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

AlphaFold

F6Y113

Predicted Effect

probably damaging
Transcript: ENSMUST00000115261
AA Change: Y72H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000110916
Gene: ENSMUSG00000079644
AA Change: Y72H

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AI837181	CGG	CGGTGG	19: 5,425,234		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,235		probably benign	Het
Angptl1	A	T	1: 156,857,224	Q321L	possibly damaging	Het
AY358078	T	TAGGATAATGC	14: 51,805,593		probably null	Het
Blm	CCTCCTCCTCCTCCTCCTCCTCCT	CCTCCTCCTCCTGCTCCTCCTCCTCCTCCTCCTCCT	7: 80,512,905		probably benign	Het
Blm	CTC	CTCATCCTCCTCATC	7: 80,512,927		probably benign	Het
Car13	T	C	3: 14,654,914	Y129H	probably damaging	Het
Cd109	TTATTTATTTAT	TTATTTATTTATGTATTTATTTAT	9: 78,712,523		probably benign	Het
Cd109	TATTTAT	TATTTATTTATTCATTTAT	9: 78,712,528		probably benign	Het
Cdh26	T	C	2: 178,466,631	C341R	probably damaging	Het
Chga	GCA	GCACCA	12: 102,561,421		probably benign	Het
Col11a1	A	T	3: 114,217,001	I1689L	unknown	Het
Dnah6	T	G	6: 73,101,889	S2364R	probably benign	Het
E4f1	CCG	CCGACG	17: 24,455,186		probably benign	Het
Fah	A	C	7: 84,589,628	N336K	probably damaging	Het
Fam71e1	CCTGGGTCTGAGGGAGGA	CCTGGGTCTGAGGGAGGAAGGCTGGATCCTGGATAACTGGGTCTGAGGGAGGA	7: 44,500,520		probably null	Het
Fbxo11	A	T	17: 87,996,053	I664K		Het
Fcgbp	A	G	7: 28,089,755	D582G	probably benign	Het
Gabre	C	CCGGCTA	X: 72,270,057		probably null	Het
Gm14025	A	G	2: 129,038,794	F404S		Het
Inpp5e	C	T	2: 26,408,377	A71T	possibly damaging	Het
Iqcm	C	T	8: 75,577,899	T96I	probably benign	Het
Lce1m	TGCCACCGCTGC	TGCCACCGCTGCCGCCACCGCTGC	3: 93,018,283		probably benign	Het
Lce1m	AC	ACCGCCGCTGCCCC	3: 93,018,299		probably benign	Het
Lrch1	TTGGTGGTGCTGGTGG	TTGGTGG	14: 74,947,574		probably benign	Het
Lyst	A	G	13: 13,634,363	D206G	probably benign	Het
Map4k5	A	T	12: 69,856,856	D58E	probably damaging	Het
Mapkapk2	A	G	1: 131,056,513	S251P	probably damaging	Het
Mcph1	CCTG	CCTGCTG	8: 18,652,529		probably benign	Het
Men1	T	C	19: 6,340,116	S600P	probably damaging	Het
Mllt1	C	T	17: 56,896,300	V394M	probably benign	Het
Mllt1	C	A	17: 56,896,301	M393I	possibly damaging	Het
Nacc1	T	C	8: 84,676,219	E315G	possibly damaging	Het
Nefh	GGGGACTTGGCCTC	GGGGACTTGGCCTCACCTAGGGACTTGGCCTC	11: 4,941,047		probably benign	Het
Nefh	GACTTGGCCTC	GACTTGGCCTCACCTGGGGACTTGGCCTC	11: 4,941,050		probably benign	Het
Nid2	TAACACCGCCA	TA	14: 19,751,366		probably benign	Het
Olfr1484	T	A	19: 13,586,051	I206N	probably damaging	Het
Parp2	A	G	14: 50,817,386	E262G	probably damaging	Het
Pdik1l	TTT	TTTGTTTTTGTGTT	4: 134,279,375		probably null	Het
Pop1	G	A	15: 34,502,437	G90D	probably damaging	Het
Ppp3cc	T	C	14: 70,267,339	T73A	possibly damaging	Het
Prdm15	C	T	16: 97,799,629	D810N	probably damaging	Het
Prpf4b	T	A	13: 34,884,236	S349R	unknown	Het
Rassf6	TCCTGTAGAGCAATGGGGATTC	TCCTGTAGAGCAATGGGGATTCTGCCTCACTCATGGGCCTGTAGAGCAATGGGGATTC	5: 90,608,921		probably benign	Het
Rassf6	GTAGAGCAATGGGGATTC	GTAGAGCAATGGGGATTCTGCCTCACTCATGGTCCTTTAGAGCAATGGGGATTC	5: 90,608,925		probably null	Het
Sdk2	T	C	11: 113,885,252	E208G	probably benign	Het
Smurf2	G	T	11: 106,852,587	P211Q	probably benign	Het
Snx25	C	A	8: 46,116,181		probably null	Het
Spata6	T	A	4: 111,828,305	M469K	probably benign	Het
Spta1	G	T	1: 174,231,360	A1954S	possibly damaging	Het
Sry	CTGGTCGTGGAACTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGGTGGTGGTCATGGAACTGCTG	CTGGTCATGGAACTGCTG	Y: 2,662,564		probably benign	Het
Stard8	GAG	GAGTAG	X: 99,066,515		probably null	Het
Tfeb	AGC	AGCGGC	17: 47,786,102		probably benign	Het
Tlcd1	T	A	11: 78,180,194	L203Q	probably benign	Het
Tlr11	T	C	14: 50,361,225	F223L	possibly damaging	Het
Usp48	T	A	4: 137,605,795	V100D	probably damaging	Het
Vmn2r56	G	A	7: 12,694,830	T503I	probably benign	Het
Vps18	T	C	2: 119,297,390	L898P	probably damaging	Het
Zfp384	GCCCAGGCCCAGGCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAGGCCCAGGCCCAG	6: 125,036,471		probably benign	Het
Zfp706	T	A	15: 37,003,705	Y39F	probably benign	Het
Zhx3	T	A	2: 160,781,806	N147I	probably damaging	Het

Other mutations in Gm1110

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00591:Gm1110	APN	9	26880874	nonsense	probably null
IGL01089:Gm1110	APN	9	26881860	missense	probably benign
IGL01631:Gm1110	APN	9	26897916	critical splice donor site	probably null
IGL02008:Gm1110	APN	9	26883230	missense	probably benign	0.09
IGL02331:Gm1110	APN	9	26913287	critical splice donor site	probably null
IGL02335:Gm1110	APN	9	26881763	missense	probably benign	0.00
IGL02550:Gm1110	APN	9	26881834	missense	probably benign	0.09
IGL02614:Gm1110	APN	9	26920714	missense	probably benign	0.11
IGL03409:Gm1110	APN	9	26896620	missense	probably benign	0.21
PIT4458001:Gm1110	UTSW	9	26880828	missense	probably benign	0.00
R0189:Gm1110	UTSW	9	26883218	missense	probably null	0.99
R0271:Gm1110	UTSW	9	26920666	missense	probably damaging	1.00
R1034:Gm1110	UTSW	9	26921350	missense	probably damaging	1.00
R1229:Gm1110	UTSW	9	26881806	missense	probably benign
R1355:Gm1110	UTSW	9	26883761	missense	probably benign	0.01
R1566:Gm1110	UTSW	9	26880870	missense	probably damaging	1.00
R1574:Gm1110	UTSW	9	26881126	splice site	probably benign
R1916:Gm1110	UTSW	9	26889638	missense	probably damaging	1.00
R2011:Gm1110	UTSW	9	26894258	missense	probably benign	0.01
R2214:Gm1110	UTSW	9	26902490	missense	probably benign	0.37
R2567:Gm1110	UTSW	9	26920696	missense	probably benign
R2967:Gm1110	UTSW	9	26881043	missense	probably benign	0.05
R4271:Gm1110	UTSW	9	26895648	critical splice donor site	probably null
R4683:Gm1110	UTSW	9	26920594	missense	probably damaging	0.99
R4945:Gm1110	UTSW	9	26920595	missense	possibly damaging	0.46
R5015:Gm1110	UTSW	9	26881866	missense	probably benign	0.01
R5089:Gm1110	UTSW	9	26882387	missense	probably damaging	0.96
R5225:Gm1110	UTSW	9	26902478	missense	probably damaging	1.00
R5239:Gm1110	UTSW	9	26893570	missense	probably benign	0.00
R5395:Gm1110	UTSW	9	26889632	missense	probably benign
R5783:Gm1110	UTSW	9	26882336	missense	probably benign
R6045:Gm1110	UTSW	9	26883209	critical splice donor site	probably null
R6245:Gm1110	UTSW	9	26920747	missense	probably benign	0.04
R6357:Gm1110	UTSW	9	26914128	splice site	probably null
R6863:Gm1110	UTSW	9	26881064	missense	probably damaging	1.00
R7336:Gm1110	UTSW	9	26914357	missense	probably damaging	0.99
R7454:Gm1110	UTSW	9	26920649	missense	probably benign
R7555:Gm1110	UTSW	9	26893628	missense	probably benign	0.05
R7579:Gm1110	UTSW	9	26883826	missense	possibly damaging	0.93
R7990:Gm1110	UTSW	9	26880841	missense	possibly damaging	0.66
R8062:Gm1110	UTSW	9	26881821	missense	probably damaging	0.99
R8108:Gm1110	UTSW	9	26920661	missense	probably damaging	1.00
R8323:Gm1110	UTSW	9	26902423	critical splice donor site	probably null
R8354:Gm1110	UTSW	9	26883280	missense	probably benign	0.01
R8354:Gm1110	UTSW	9	26883281	missense	probably benign	0.00
R8454:Gm1110	UTSW	9	26883280	missense	probably benign	0.01
R8454:Gm1110	UTSW	9	26883281	missense	probably benign	0.00
R8494:Gm1110	UTSW	9	26880858	missense	probably benign	0.04
R8978:Gm1110	UTSW	9	26895799	splice site	probably benign
R9321:Gm1110	UTSW	9	26920595	missense	probably benign	0.00
R9513:Gm1110	UTSW	9	26883787	missense	possibly damaging	0.95
R9545:Gm1110	UTSW	9	26889681	missense	probably benign	0.00
R9758:Gm1110	UTSW	9	26889598	nonsense	probably null
X0063:Gm1110	UTSW	9	26894280	missense	probably benign	0.01
Z1088:Gm1110	UTSW	9	26913310	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTTGGCTAACAAAGATCTTTCTTAA -3'
(R):5'- ACCTTGAAATCTTCAGTTTTCCTG -3'

Sequencing Primer
(F):5'- CTCAGCTAGGAATTCAGTTG -3'
(R):5'- CCTGAGCCTTGCTGAACAC -3'

Posted On

2019-12-04