Mutagenetix > Incidental Mutation

Incidental Mutation 'RF002:AI837181'

602594

Institutional Source

Beutler Lab

Gene Symbol

AI837181

Ensembl Gene

ENSMUSG00000047423

Gene Name

expressed sequence AI837181

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

RF002 (G1)

Quality Score

156.468

Status

Not validated

Chromosome

Chromosomal Location

5425157-5427313 bp(+) (GRCm38)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GGC to GGCTGC at 5425235 bp (GRCm38)

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
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
Gm1110	A	G	9: 26,920,640	Y72H	probably damaging	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 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
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
RF021:AI837181	UTSW	19	5425234	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