Mutagenetix > Incidental Mutations

Incidental Mutation 'RF021:AI837181'

603910

Institutional Source

Beutler Lab

Gene Symbol

AI837181

Ensembl Gene

ENSMUSG00000047423

Gene Name

expressed sequence AI837181

Synonyms

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF021 (G1)

Quality Score

128.469

Status

Not validated

Chromosome

Chromosomal Location

5425157-5427313 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

CGG to CGGTGG at 5425234 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000125651 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000025853] [ENSMUST00000113673] [ENSMUST00000113674] [ENSMUST00000136579] [ENSMUST00000148219] [ENSMUST00000159759]

AlphaFold

Q8VD62

Predicted Effect

probably benign
Transcript: ENSMUST00000025853

SMART Domains

Protein: ENSMUSP00000025853
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:Histone	4	76	2.1e-8	PFAM
Pfam:CBFD_NFYB_HMF	10	74	1e-20	PFAM
low complexity region	103	123	N/A	INTRINSIC
low complexity region	134	155	N/A	INTRINSIC
low complexity region	172	194	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113673

SMART Domains

Protein: ENSMUSP00000109303
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	1	54	6.7e-14	PFAM
Pfam:Histone	1	56	1.8e-6	PFAM
low complexity region	83	103	N/A	INTRINSIC
low complexity region	114	135	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000113674

SMART Domains

Protein: ENSMUSP00000109304
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	10	74	5e-22	PFAM
low complexity region	114	130	N/A	INTRINSIC
low complexity region	141	162	N/A	INTRINSIC
low complexity region	179	201	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136579

SMART Domains

Protein: ENSMUSP00000133692
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:CBFD_NFYB_HMF	1	54	8.7e-14	PFAM
Pfam:Histone	1	56	2.3e-6	PFAM
low complexity region	83	103	N/A	INTRINSIC
low complexity region	114	135	N/A	INTRINSIC
low complexity region	152	174	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000148219

SMART Domains

Protein: ENSMUSP00000121162
Gene: ENSMUSG00000024914

Domain	Start	End	E-Value	Type
Pfam:Histone	4	76	9.4e-10	PFAM
Pfam:CBFD_NFYB_HMF	10	74	4.5e-22	PFAM
low complexity region	103	123	N/A	INTRINSIC
low complexity region	134	155	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000159759

SMART Domains

Protein: ENSMUSP00000125651
Gene: ENSMUSG00000047423

Domain	Start	End	E-Value	Type
low complexity region	2	25	N/A	INTRINSIC
low complexity region	44	64	N/A	INTRINSIC
low complexity region	69	82	N/A	INTRINSIC
Pfam:DUF1917	139	259	6.1e-19	PFAM

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.3%
20x: 98.3%

Validation Efficiency

91% (50/55)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932438A13Rik	TTATTATTATTAT	TTATTATTATTATTAATATTATTATTAT	3: 37,050,748		probably benign	Het
A030005L19Rik	GTGGTGGCTG	GTGGTGGCTGTGGTGGCTG	1: 82,913,569		probably benign	Het
Ankrd44	T	C	1: 54,778,312	H79R	probably damaging	Het
Atg9a	T	A	1: 75,182,629	E826V	probably damaging	Het
Atrnl1	T	C	19: 57,642,473	V224A	probably benign	Het
Cpn2	G	A	16: 30,259,338	A515V	probably benign	Het
Cyp2a12	T	C	7: 27,035,360	F402S	possibly damaging	Het
Defb22	TGCGGCA	TGCGGCAGAGCTGGGCGTTGCGGCA	2: 152,485,832		probably benign	Het
Diexf	A	G	1: 193,120,666	F248L	probably benign	Het
Dnah10	G	T	5: 124,777,907	V2016F	probably damaging	Het
Dock10	T	C	1: 80,564,573		probably null	Het
Efhd2	GCC	GCCGCCCCC	4: 141,874,773		probably benign	Het
Fam131a	A	C	16: 20,694,940		probably benign	Het
Gm6614	A	T	6: 142,008,714	V31E	probably damaging	Het
Gm7247	AGACCAGACC	A	14: 51,364,324		probably benign	Het
Gna13	T	C	11: 109,392,392	V186A	probably benign	Het
Grk3	T	A	5: 112,941,688	I333L	probably benign	Het
Gstp1	A	T	19: 4,035,507	V200E	probably benign	Het
Gtf2h1	T	G	7: 46,803,865	V74G	possibly damaging	Het
Kcnh8	G	A	17: 52,978,239	R1079H	probably benign	Het
Kiz	A	G	2: 146,870,830	D138G	possibly damaging	Het
Kmt2b	TTCTCCT	TTCTCCTTCTCCT	7: 30,586,357		probably benign	Het
Lats1	A	G	10: 7,710,608	T912A	probably damaging	Het
Lce1m	GCTGCCACC	GCTGCCACCACTTCTGCCACC	3: 93,018,269		probably benign	Het
Lce1m	TGCC	TGCCGCCGCTGCCGCC	3: 93,018,295		probably benign	Het
Lrrc2	TTGATTCGGTTCACC	T	9: 110,981,676		probably null	Het
Med12l	T	C	3: 59,073,290	F359S	probably benign	Het
Mut	A	G	17: 40,951,758	I444V	probably benign	Het
Ncoa2	CTTAAAA	C	1: 13,149,109		probably benign	Het
Ngp	A	G	9: 110,421,756	T114A	possibly damaging	Het
Nlrc5	A	T	8: 94,476,888	T539S	probably benign	Het
Nxf1	A	G	19: 8,772,309	D190G	probably damaging	Het
Olfr229	A	T	9: 39,910,045	M81L	probably benign	Het
Olfr769	A	T	10: 129,112,342	F28I	probably damaging	Het
Pramef25	C	G	4: 143,948,908	Q449H	probably damaging	Het
Prdm15	G	A	16: 97,808,756	H563Y	probably damaging	Het
Rbm12	CAGG	CAGGGATTGCGGGACCTGGTATTGCGGGACCAGG	2: 156,096,106		probably benign	Het
Sema3g	C	T	14: 31,227,841	H660Y	probably damaging	Het
Smarca2	AGCAGCAGCAGCAGCAGCAGCA	AGCAGCAGCAGCAGCAGCAGCAGCAGCA	19: 26,630,997		probably benign	Het
Stpg2	A	T	3: 139,212,250		probably null	Het
Taar7f	C	T	10: 24,050,423	T305M	possibly damaging	Het
Tbcb	C	T	7: 30,224,346	V208M	probably damaging	Het
Tenm2	T	A	11: 36,024,203	Q2169L	possibly damaging	Het
Tln1	A	G	4: 43,555,890	V108A	probably damaging	Het
Tmc8	T	C	11: 117,783,234	M42T	probably benign	Het
Trdc	T	C	14: 54,144,203	V115A		Het
Ttbk2	A	G	2: 120,748,634	V669A	probably benign	Het
Tusc1	GCC	GCCACCACC	4: 93,335,316		probably benign	Het
Vps16	A	G	2: 130,438,209	H118R	probably benign	Het
Wdpcp	T	A	11: 21,711,587	C286*	probably null	Het
Zbed4	C	A	15: 88,781,236	Y502*	probably null	Het
Zdbf2	T	A	1: 63,302,652	N63K	possibly damaging	Het

Other mutations in AI837181

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:AI837181	UTSW	19	5425231	small insertion	probably benign
FR4548:AI837181	UTSW	19	5425237	small insertion	probably benign
FR4976:AI837181	UTSW	19	5425229	small insertion	probably benign
R0357:AI837181	UTSW	19	5426703	missense	possibly damaging	0.49
R1944:AI837181	UTSW	19	5426229	missense	probably damaging	0.96
R4846:AI837181	UTSW	19	5426301	missense	probably benign	0.23
R7269:AI837181	UTSW	19	5426434	missense	probably damaging	1.00
R7561:AI837181	UTSW	19	5426463	missense	probably damaging	1.00
R7761:AI837181	UTSW	19	5426291	missense	probably benign	0.03
R9057:AI837181	UTSW	19	5426702	missense	probably damaging	0.98
RF002:AI837181	UTSW	19	5425234	small insertion	probably benign
RF002:AI837181	UTSW	19	5425235	small insertion	probably benign
RF008:AI837181	UTSW	19	5425238	small insertion	probably benign
RF009:AI837181	UTSW	19	5425234	small insertion	probably benign
RF011:AI837181	UTSW	19	5425236	small insertion	probably benign
RF012:AI837181	UTSW	19	5425227	small insertion	probably benign
RF013:AI837181	UTSW	19	5425232	small insertion	probably benign
RF025:AI837181	UTSW	19	5425226	small insertion	probably benign
RF026:AI837181	UTSW	19	5425224	small insertion	probably benign
RF030:AI837181	UTSW	19	5425226	small insertion	probably benign
RF030:AI837181	UTSW	19	5425235	small insertion	probably benign
RF031:AI837181	UTSW	19	5425218	small insertion	probably benign
RF033:AI837181	UTSW	19	5425224	small insertion	probably benign
RF033:AI837181	UTSW	19	5425237	small insertion	probably benign
RF035:AI837181	UTSW	19	5425238	small insertion	probably benign
RF038:AI837181	UTSW	19	5425226	small insertion	probably benign
RF038:AI837181	UTSW	19	5425236	small insertion	probably benign
RF041:AI837181	UTSW	19	5425229	small insertion	probably benign
RF042:AI837181	UTSW	19	5425217	small insertion	probably benign
RF042:AI837181	UTSW	19	5425237	small insertion	probably benign
RF045:AI837181	UTSW	19	5425218	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTACGAACGTTAGCTCCGC -3'
(R):5'- TCGAACCAGATAGGACCAGG -3'

Sequencing Primer
(F):5'- TTAGCTCCGCCTCCCGAAG -3'
(R):5'- AGATAGGACCAGGCCTGC -3'

Posted On

2019-12-04