Mutagenetix > Incidental Mutation

Incidental Mutation 'RF008:AI837181'

603020

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 #

RF008 (G1)

Quality Score

133.467

Status

Not validated

Chromosome

Chromosomal Location

5475172-5477341 bp(+) (GRCm39)

Type of Mutation

small insertion (1 aa in frame mutation)

DNA Base Change (assembly)

G to GGCT at 5475266 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: 99.4%
20x: 98.7%

Validation Efficiency

100% (45/45)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abi3bp	CCACGACC	CCACGACCACGACC	16: 56,447,952 (GRCm39)		probably benign	Het
Acan	T	G	7: 78,742,148 (GRCm39)	V515G	possibly damaging	Het
Acap3	TGG	TGGACTGCTGCATCCAGG	4: 155,989,555 (GRCm39)		probably benign	Het
Ankhd1	GGCGGC	GGCGGCAGCGGC	18: 36,693,977 (GRCm39)		probably benign	Het
Anks1b	G	A	10: 89,869,087 (GRCm39)	G49D	probably damaging	Het
Arid1b	GCG	GCGACG	17: 5,045,869 (GRCm39)		probably benign	Het
Arid1b	CGG	CGGAGG	17: 5,045,870 (GRCm39)		probably benign	Het
Begain	G	GCCGCCC	12: 108,999,363 (GRCm39)		probably null	Het
Cacna1e	A	G	1: 154,317,882 (GRCm39)	M1500T	probably damaging	Het
Casp16	C	A	17: 23,774,201 (GRCm39)		probably benign	Het
Ccdc174	T	C	6: 91,876,347 (GRCm39)	S395P	possibly damaging	Het
Ccdc7a	T	G	8: 129,691,434 (GRCm39)	Q396H	probably damaging	Het
Ccdc85c	CC	CCGGC	12: 108,240,887 (GRCm39)		probably benign	Het
Cemip	T	C	7: 83,610,843 (GRCm39)	T704A	probably damaging	Het
Cfap68	C	T	9: 50,677,067 (GRCm39)	R8H	probably benign	Het
Col7a1	C	T	9: 108,793,547 (GRCm39)	P1370S	unknown	Het
Cts8	T	C	13: 61,397,102 (GRCm39)	I273V	probably benign	Het
Cyp2c50	T	A	19: 40,078,268 (GRCm39)	I42N	probably damaging	Het
Dbt	T	G	3: 116,341,717 (GRCm39)	Y439*	probably null	Het
Dennd1b	T	A	1: 138,981,135 (GRCm39)	D116E	probably damaging	Het
Dkk2	T	A	3: 131,883,863 (GRCm39)	H254Q	probably damaging	Het
Dpy30	C	A	17: 74,622,902 (GRCm39)	V27F	possibly damaging	Het
Efhd2	GCCGCC	GCCGCCCCCGCC	4: 141,602,069 (GRCm39)		probably benign	Het
Eif4g3	A	T	4: 137,903,235 (GRCm39)	E1020V	probably damaging	Het
Elmo1	T	A	13: 20,458,706 (GRCm39)	S156T	probably benign	Het
Fancd2os	T	C	6: 113,574,881 (GRCm39)	T42A	probably damaging	Het
Fbrsl1	TGTGC	TGTGCGGGTGTGGGTGC	5: 110,525,984 (GRCm39)		probably benign	Het
Fsip2	T	C	2: 82,808,184 (GRCm39)	V1501A	probably benign	Het
Gabrb2	A	G	11: 42,517,705 (GRCm39)	Y509C	probably damaging	Het
Gm8369	GTGT	GTGTTTGT	19: 11,489,118 (GRCm39)		probably null	Het
Gpr139	T	C	7: 118,744,090 (GRCm39)	D165G	probably benign	Het
Grik2	T	C	10: 49,120,480 (GRCm39)	E603G	probably damaging	Het
H13	G	A	2: 152,511,589 (GRCm39)	E30K	probably damaging	Het
Ifitm10	T	A	7: 141,882,330 (GRCm39)	M147L	unknown	Het
Itpkb	C	T	1: 180,160,887 (GRCm39)	R338W	probably damaging	Het
Kif1b	T	A	4: 149,336,195 (GRCm39)		probably null	Het
Krtap28-10	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	ACCACAGCCACAGCCACCACAGCCACAGCCACCACAGCCACAGCCACCACAGC	1: 83,019,974 (GRCm39)		probably benign	Het
Krtap28-10	AGCCACCACAGC	AGCCACCACAGCCACCGCCACCACAGC	1: 83,020,000 (GRCm39)		probably benign	Het
Krtap28-10	CAGCCA	CAGCCATAGCCA	1: 83,019,849 (GRCm39)		probably benign	Het
Krtap28-10	AGCCAC	AGCCACCGCCAC	1: 83,019,856 (GRCm39)		probably benign	Het
Las1l	AGTGG	AGTGGTGG	X: 94,984,422 (GRCm39)		probably benign	Het
Mical2	T	C	7: 111,922,833 (GRCm39)	Y613H	probably damaging	Het
Mlf2	C	A	6: 124,911,259 (GRCm39)	H91Q	probably benign	Het
Nat9	A	T	11: 115,074,212 (GRCm39)	I152N	probably damaging	Het
Or10d4c	T	C	9: 39,558,559 (GRCm39)	M179T	probably benign	Het
Or4a75	A	T	2: 89,447,711 (GRCm39)	I275N	possibly damaging	Het
Pdik1l	CACCAC	CACCACAACCAC	4: 134,006,822 (GRCm39)		probably benign	Het
Phldb2	T	C	16: 45,583,337 (GRCm39)	S1054G	probably damaging	Het
Pkhd1l1	TTTT	TTTTTTTTTTGTTT	15: 44,421,901 (GRCm39)		probably benign	Het
Plcg2	T	A	8: 118,300,263 (GRCm39)		probably null	Het
Polr1has	CACCACCACCACCACCAC	CACCACCACCACCACCACCACAACCACCACCACCACCAC	17: 37,275,946 (GRCm39)		probably benign	Het
Prdm16	T	A	4: 154,426,452 (GRCm39)	R444S	probably damaging	Het
Rgs6	T	C	12: 83,110,223 (GRCm39)	F163L	probably damaging	Het
Rnaseh2a	A	T	8: 85,686,687 (GRCm39)	L154*	probably null	Het
Rpp38	A	G	2: 3,330,072 (GRCm39)	S277P	unknown	Het
Setd1a	GGTAGTGGT	GGTAGTGGTTGTAGTGGT	7: 127,384,486 (GRCm39)		probably benign	Het
Shisa6	CGACAGCAGCAGAG	CG	11: 66,416,749 (GRCm39)		probably benign	Het
Slc27a2	T	A	2: 126,395,175 (GRCm39)	L34Q	possibly damaging	Het
Slc7a6	G	A	8: 106,922,030 (GRCm39)	V386I	probably benign	Het
Spry1	C	T	3: 37,697,264 (GRCm39)	T169I	possibly damaging	Het
Sry	TGCTGCTGCTG	TGCTGCTGCTGCTG	Y: 2,662,826 (GRCm39)		probably benign	Het
Stk24	A	T	14: 121,532,172 (GRCm39)	I275N	probably benign	Het
Strn	TC	TCCGTGCTCCCTTACCCCAGTCCGTGCTCCCTTACCCCAGGC	17: 78,984,716 (GRCm39)		probably null	Het
Tcp11l2	C	A	10: 84,449,388 (GRCm39)	P451Q	probably damaging	Het
Tfeb	AGC	AGCTGC	17: 48,097,027 (GRCm39)		probably benign	Het
Trappc9	TGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	TGCTGCTGCTGCTGCGGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCTGCT	15: 72,673,138 (GRCm39)		probably benign	Het
V1ra8	A	G	6: 90,180,591 (GRCm39)	T265A	probably benign	Het
Zfp106	CTCCTGGCAGT	CT	2: 120,355,026 (GRCm39)		probably benign	Het
Zfp612	C	A	8: 110,816,193 (GRCm39)	H467N	probably damaging	Het
Zfp777	A	T	6: 48,018,982 (GRCm39)	Y317*	probably null	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
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
RF030:AI837181	UTSW	19	5,475,254 (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'- AGTACGAACGTTAGCTCCGC -3'
(R):5'- ACTCGAACCAGATAGGACCAGG -3'

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

Posted On

2019-12-04