Mutagenetix > Incidental Mutation

Incidental Mutation 'RF030:AI837181'

604341

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 #

RF030 (G1)

Quality Score

162.468

Status

Not validated

Chromosome

Chromosomal Location

5475172-5477341 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

GGC to GGCTGC at 5475254 bp (GRCm39)

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: 99.5%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Amfr	GCC	GCCGGCGCGAGCTCC	8: 94,738,920 (GRCm39)		probably benign	Het
Ankhd1	GCGGCG	GCGGCGCCGGCG	18: 36,693,966 (GRCm39)		probably benign	Het
Ankhd1	GGCGGCAGC	GGCGGCAGCGGCAGC	18: 36,693,980 (GRCm39)		probably benign	Het
AY761185	GGGCACTGTGG	GGG	8: 21,433,916 (GRCm39)		probably null	Het
B430218F22Rik	GG	GGTCGGCG	13: 118,523,384 (GRCm39)		probably benign	Het
Calhm1	CTGTGGCTGTGGCTGTGGCTGTGG	CTGTGGCTGTGGATGTGGCTGTGGCTGTGGCTGTGG	19: 47,129,692 (GRCm39)		probably benign	Het
Cox7a2l	GGA	GGATAGGGA	17: 83,810,151 (GRCm39)		probably benign	Het
Cul9	CCTC	CCTCCTC	17: 46,811,795 (GRCm39)		probably benign	Het
Cyb5r4	ACACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	ACACACTGCCCAGGGATGTGACAGCCACACTGCCCAGGGATGTGACAGACACACTGCCCAGGGA	9: 86,922,462 (GRCm39)		probably benign	Het
Cyb5r4	TGCCCAGGGATGTGACAGACACAC	TGCCCAGGGATGTGACAGACACACGGCCCAGGGATGTGACAGACACAC	9: 86,922,468 (GRCm39)		probably benign	Het
Dmkn	GTG	GTGTTGGAAGTGGTGGAAGTGGTGGAAATG	7: 30,466,607 (GRCm39)		probably benign	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Eed	C	A	7: 89,604,240 (GRCm39)	A411S	probably benign	Het
Fer1l4	GGTC	G	2: 155,887,449 (GRCm39)		probably benign	Het
Frem3	GATC	GATCATC	8: 81,341,867 (GRCm39)		probably benign	Het
Gab3	CTTTT	CT	X: 74,043,583 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,632 (GRCm39)		probably benign	Het
Gab3	TTC	TTCGTC	X: 74,043,631 (GRCm39)		probably benign	Het
Gab3	TCT	TCTCCT	X: 74,043,614 (GRCm39)		probably benign	Het
Gab3	TCT	TCTGCT	X: 74,043,611 (GRCm39)		probably benign	Het
Gm5475	GAAAGGTGGAAGGAAA	GAA	15: 100,325,037 (GRCm39)		probably null	Het
Gm572	TGGGGGGGGGGGG	TGGGGG	4: 148,755,850 (GRCm39)		probably null	Het
Gucy1b2	CACACACACACACACACTTAC	CAC	14: 62,646,090 (GRCm39)		probably benign	Het
Gucy2d	C	CTGGGGCCTG	7: 98,108,241 (GRCm39)		probably benign	Het
Hsdl2	CCACAGCTGCAG	CCACAGCTGCAGCAGCAGACACAGCTGCAG	4: 59,610,647 (GRCm39)		probably benign	Het
Idh2	GGTCCCAG	GG	7: 79,748,077 (GRCm39)		probably benign	Het
Il2	GTGG	GTGGGGCTTGAACTGG	3: 37,179,976 (GRCm39)		probably benign	Het
Il2	GG	GGGCTTGAAGTGTG	3: 37,179,991 (GRCm39)		probably benign	Het
Irag2	TG	TGAGCACATGG	6: 145,119,516 (GRCm39)		probably benign	Het
Irag2	ATTG	ATTGAGCACGTTG	6: 145,119,514 (GRCm39)		probably benign	Het
Kmt2b	CTCCTC	CTCCTCTTCCTC	7: 30,285,802 (GRCm39)		probably benign	Het
Lce1m	C	CGGCTGCTGCCAA	3: 92,925,448 (GRCm39)		probably benign	Het
Lce1m	GCTGCCAC	GCTGCCACAGCAACTTCTGCCAC	3: 92,925,651 (GRCm39)		probably benign	Het
Mamld1	CAG	CAGTAG	X: 70,162,434 (GRCm39)		probably null	Het
Map1a	CAGCTCCA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCTAGCTCCA	2: 121,136,792 (GRCm39)		probably benign	Het
Map1a	CA	CAGCTCCAGCTCCAGCTCCAGCTCCAGCTCAA	2: 121,136,798 (GRCm39)		probably benign	Het
Med12l	GCA	GCATCA	3: 59,183,410 (GRCm39)		probably benign	Het
Morn4	GCAGTGAG	GCAGTGAGTCAGTCAGTGAG	19: 42,064,550 (GRCm39)		probably null	Het
Pdik1l	C	CCACCAA	4: 134,006,827 (GRCm39)		probably benign	Het
Pkhd1l1	TTTTTTT	TTTTTTTTTGTTTTTT	15: 44,421,898 (GRCm39)		probably benign	Het
Rfx4	TCTCTCTCTCTCTCT	TCTCTCTCTCTCTCTCCCTCTCTCTCTCTCT	10: 84,694,344 (GRCm39)		probably benign	Het
Setd1a	TGGTGGTGG	TGGTGGTGGGGGTGGTGG	7: 127,384,473 (GRCm39)		probably benign	Het
Setd1a	GGTGGTAGT	GGTGGTAGTTGTGGTAGT	7: 127,384,483 (GRCm39)		probably benign	Het
Six5	CGGA	C	7: 18,828,725 (GRCm39)		probably benign	Het
Spmap2l	AGCGATCCTCCCCAGTCCCGCAAGGCC	AGCGATCCTCCCCTGTCCCGCAAGGCCGGCGATCCTCCCCAGTCCCGCAAGGCC	5: 77,164,248 (GRCm39)		probably benign	Het
Tcof1	CTGCTGCTGC	CTGCTGCTGCTGC	18: 60,968,795 (GRCm39)		probably benign	Het
Tcof1	CCAGA	CCAGACATCCCCTTGGCTGCTGAGCTGGGCACTTTCTCAGA	18: 60,966,640 (GRCm39)		probably benign	Het
Tcof1	ATCCCCTTGGC	ATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGAGGTCCCCTTGGC	18: 60,966,646 (GRCm39)		probably benign	Het
Tfeb	CAG	CAGAAG	17: 48,097,038 (GRCm39)		probably benign	Het
Tfeb	AGC	AGCCGC	17: 48,097,036 (GRCm39)		probably benign	Het
Tfeb	GCA	GCACCA	17: 48,097,037 (GRCm39)		probably benign	Het
Tgoln1	TGGGCTTG	TGGGCTTGTCAGAATCACCTCCTGCGGGCTTG	6: 72,593,019 (GRCm39)		probably benign	Het
Tgoln1	GCTTGCCAGAAT	GCTTGCCAGAATCACCTCCCGTGGTCTTGCCAGAAT	6: 72,593,046 (GRCm39)		probably benign	Het
Tomm5	GCATCTTCC	GCATCTTCCACATCTTCC	4: 45,107,973 (GRCm39)		probably benign	Het
Trappc9	TGCTGCT	TGCTGCTGCTGCTGCGGCTGCT	15: 72,673,174 (GRCm39)		probably benign	Het
Tsen2	GGA	GGACGA	6: 115,537,028 (GRCm39)		probably benign	Het
Wdr97	AGGAGGAGG	AG	15: 76,247,365 (GRCm39)		probably null	Het
Zfp384	GCCCAGGCCCAG	GCCCAGGCCCAGTCCCAGGCCCAG	6: 125,013,446 (GRCm39)		probably benign	Het

Other mutations in AI837181

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
FR4548:AI837181	UTSW	19	5,475,265 (GRCm39)	small insertion	probably benign
FR4548:AI837181	UTSW	19	5,475,259 (GRCm39)	small insertion	probably benign
FR4976:AI837181	UTSW	19	5,475,257 (GRCm39)	small insertion	probably benign
R0357:AI837181	UTSW	19	5,476,731 (GRCm39)	missense	possibly damaging	0.49
R1944:AI837181	UTSW	19	5,476,257 (GRCm39)	missense	probably damaging	0.96
R4846:AI837181	UTSW	19	5,476,329 (GRCm39)	missense	probably benign	0.23
R7269:AI837181	UTSW	19	5,476,462 (GRCm39)	missense	probably damaging	1.00
R7561:AI837181	UTSW	19	5,476,491 (GRCm39)	missense	probably damaging	1.00
R7761:AI837181	UTSW	19	5,476,319 (GRCm39)	missense	probably benign	0.03
R9057:AI837181	UTSW	19	5,476,730 (GRCm39)	missense	probably damaging	0.98
RF002:AI837181	UTSW	19	5,475,263 (GRCm39)	small insertion	probably benign
RF002:AI837181	UTSW	19	5,475,262 (GRCm39)	small insertion	probably benign
RF008:AI837181	UTSW	19	5,475,266 (GRCm39)	small insertion	probably benign
RF009:AI837181	UTSW	19	5,475,262 (GRCm39)	small insertion	probably benign
RF011:AI837181	UTSW	19	5,475,264 (GRCm39)	small insertion	probably benign
RF012:AI837181	UTSW	19	5,475,255 (GRCm39)	small insertion	probably benign
RF013:AI837181	UTSW	19	5,475,260 (GRCm39)	small insertion	probably benign
RF021:AI837181	UTSW	19	5,475,262 (GRCm39)	small insertion	probably benign
RF025:AI837181	UTSW	19	5,475,254 (GRCm39)	small insertion	probably benign
RF026:AI837181	UTSW	19	5,475,252 (GRCm39)	small insertion	probably benign
RF030:AI837181	UTSW	19	5,475,263 (GRCm39)	small insertion	probably benign
RF031:AI837181	UTSW	19	5,475,246 (GRCm39)	small insertion	probably benign
RF033:AI837181	UTSW	19	5,475,265 (GRCm39)	small insertion	probably benign
RF033:AI837181	UTSW	19	5,475,252 (GRCm39)	small insertion	probably benign
RF035:AI837181	UTSW	19	5,475,266 (GRCm39)	small insertion	probably benign
RF038:AI837181	UTSW	19	5,475,264 (GRCm39)	small insertion	probably benign
RF038:AI837181	UTSW	19	5,475,254 (GRCm39)	small insertion	probably benign
RF041:AI837181	UTSW	19	5,475,257 (GRCm39)	small insertion	probably benign
RF042:AI837181	UTSW	19	5,475,265 (GRCm39)	small insertion	probably benign
RF042:AI837181	UTSW	19	5,475,245 (GRCm39)	small insertion	probably benign
RF045:AI837181	UTSW	19	5,475,246 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTACGAACGTTAGCTCCG -3'
(R):5'- ACTCGAACCAGATAGGACCAGG -3'

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

Posted On

2019-12-04