Mutagenetix > Incidental Mutation

Incidental Mutation 'R6836:AU018091'

534564

Institutional Source

Beutler Lab

Gene Symbol

AU018091

Ensembl Gene

ENSMUSG00000054753

Gene Name

expressed sequence AU018091

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.206) question?

Stock #

R6836 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

3154658-3169203 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 3164156 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 77 (D77A)

Ref Sequence

ENSEMBL: ENSMUSP00000144796 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000171749] [ENSMUST00000203937]

AlphaFold

E9PWS4

Predicted Effect

probably damaging
Transcript: ENSMUST00000171749
AA Change: D86A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000126800
Gene: ENSMUSG00000054753
AA Change: D86A

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	82	504	2.9e-47	PFAM
Pfam:AA_permease	86	481	3.5e-31	PFAM
transmembrane domain	541	563	N/A	INTRINSIC
transmembrane domain	573	593	N/A	INTRINSIC
Pfam:AA_permease_C	604	654	9.4e-28	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203937
AA Change: D77A

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

SMART Domains

Protein: ENSMUSP00000144796
Gene: ENSMUSG00000054753
AA Change: D77A

Domain	Start	End	E-Value	Type
Pfam:AA_permease_2	73	177	7.9e-11	PFAM
Pfam:AA_permease	77	176	3.1e-8	PFAM

Meta Mutation Damage Score

0.9038

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

100% (62/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
5430419D17Rik	A	T	7: 131,196,504	I81F	possibly damaging	Het
Adamtsl2	T	C	2: 27,081,706	M1T	probably null	Het
Aim2	C	G	1: 173,463,980	T317R	probably damaging	Het
Alox8	T	C	11: 69,186,505	Y473C	probably damaging	Het
Alox8	T	C	11: 69,189,889	R209G	possibly damaging	Het
Asb5	A	G	8: 54,585,071	M210V	probably benign	Het
Atp2c2	T	A	8: 119,734,415	L249Q	probably damaging	Het
Bahcc1	A	T	11: 120,271,757	K294*	probably null	Het
Baz2b	C	T	2: 59,917,425	R1298Q	probably damaging	Het
Bivm	T	A	1: 44,143,136	N501K	possibly damaging	Het
Bpifb5	T	A	2: 154,228,065	I145N	probably benign	Het
Casq2	A	T	3: 102,086,760	N41I	probably damaging	Het
Ccdc18	T	C	5: 108,197,967	L993P	probably damaging	Het
Cfap44	A	G	16: 44,404,079	D50G	probably damaging	Het
Clca3a2	T	A	3: 144,806,383	I91F	probably damaging	Het
Crebbp	T	A	16: 4,180,022	H66L	possibly damaging	Het
Cyfip2	T	C	11: 46,272,640	T321A	probably benign	Het
Dido1	A	G	2: 180,662,307	V1268A	probably benign	Het
E030030I06Rik	A	C	10: 22,148,492	V174G	probably damaging	Het
Gm20730	G	T	6: 43,081,833		probably null	Het
Gm36176	T	C	10: 77,847,142		probably benign	Het
Gper1	T	A	5: 139,426,680	M260K	probably damaging	Het
Igfbp2	T	C	1: 72,849,658	L89P	probably damaging	Het
Katnal1	T	C	5: 148,894,164	N200S	probably damaging	Het
Kcnk13	G	T	12: 100,061,689	R341L	probably damaging	Het
Klhl20	T	A	1: 161,105,406	E277D	probably benign	Het
Lingo1	T	C	9: 56,619,772	Y517C	probably damaging	Het
Lrrk1	C	T	7: 66,342,779	E82K	probably benign	Het
Mtor	T	A	4: 148,489,498	V1275D	possibly damaging	Het
Ncan	C	T	8: 70,100,315	S1089N	possibly damaging	Het
Notch4	C	T	17: 34,586,100	T1643I	probably damaging	Het
Olfr1258	T	C	2: 89,930,339	C177R	probably damaging	Het
Olfr1357	A	G	10: 78,612,590	L17P	probably damaging	Het
Olfr1387	A	T	11: 49,460,077	T133S	possibly damaging	Het
Olfr539	A	C	7: 140,668,180	I298L	possibly damaging	Het
Pcdhgb6	T	C	18: 37,742,962	V241A	probably benign	Het
Phf11b	T	A	14: 59,328,123	T102S	possibly damaging	Het
Pkd1	T	A	17: 24,581,259	V2998E	probably damaging	Het
Ppp1r13b	T	C	12: 111,835,195	S352G	probably benign	Het
Ptprh	C	T	7: 4,551,135	V778M	probably damaging	Het
Ptprz1	C	T	6: 23,030,665	Q1008*	probably null	Het
Ralgapa1	A	T	12: 55,604,273		probably null	Het
Rbm20	G	A	19: 53,814,069	G336E	probably damaging	Het
Sdsl	T	C	5: 120,462,102	I77V	probably benign	Het
Serpina3b	G	A	12: 104,134,082	E308K	probably benign	Het
Sfrp5	G	A	19: 42,201,710	T101I	probably damaging	Het
Slc2a13	C	T	15: 91,321,632	V451I	probably benign	Het
Slc6a9	C	T	4: 117,867,886	A559V	possibly damaging	Het
Spg11	C	T	2: 122,059,535	A2109T	probably damaging	Het
Stard9	C	T	2: 120,699,843	R2194C	probably benign	Het
Tfeb	T	C	17: 47,786,198		probably null	Het
Tiam2	T	A	17: 3,414,380	I128N	probably benign	Het
Tmem161b	C	A	13: 84,222,418		probably benign	Het
Tpr	T	G	1: 150,436,673		probably null	Het
Traf3ip1	T	C	1: 91,521,000	I456T	probably benign	Het
Ttll4	T	A	1: 74,689,413	D892E	probably damaging	Het
Ubr1	T	A	2: 120,896,675		probably null	Het
Vmn2r74	T	A	7: 85,957,422	I239F	probably benign	Het
Wdfy3	C	T	5: 101,952,999	V251M	probably damaging	Het
Xylb	T	A	9: 119,391,754	L531H	probably damaging	Het
Zfp960	T	A	17: 17,088,172	C383S	probably damaging	Het

Other mutations in AU018091

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00899:AU018091	APN	7	3158763	missense	probably benign	0.01
IGL01063:AU018091	APN	7	3162313	missense	possibly damaging	0.62
IGL01598:AU018091	APN	7	3162270	missense	possibly damaging	0.71
IGL03253:AU018091	APN	7	3164172	missense	probably damaging	1.00
IGL03386:AU018091	APN	7	3161267	missense	probably damaging	1.00
IGL02835:AU018091	UTSW	7	3169071	missense	unknown
R0070:AU018091	UTSW	7	3158898	splice site	probably null
R0070:AU018091	UTSW	7	3158898	splice site	probably null
R0733:AU018091	UTSW	7	3159161	missense	probably damaging	1.00
R1221:AU018091	UTSW	7	3158877	missense	probably damaging	1.00
R1467:AU018091	UTSW	7	3164259	missense	probably benign	0.01
R1467:AU018091	UTSW	7	3164259	missense	probably benign	0.01
R1708:AU018091	UTSW	7	3156344	missense	probably damaging	1.00
R1990:AU018091	UTSW	7	3162264	missense	probably benign	0.25
R4043:AU018091	UTSW	7	3159122	missense	probably damaging	1.00
R4369:AU018091	UTSW	7	3157975	nonsense	probably null
R4501:AU018091	UTSW	7	3159079	missense	probably benign	0.25
R4595:AU018091	UTSW	7	3158428	missense	possibly damaging	0.91
R4853:AU018091	UTSW	7	3156021	missense	probably damaging	1.00
R6834:AU018091	UTSW	7	3157955	missense	probably benign	0.06
R6941:AU018091	UTSW	7	3159427	critical splice donor site	probably null
R7153:AU018091	UTSW	7	3159513	missense	probably benign	0.01
R7196:AU018091	UTSW	7	3163958	missense	probably damaging	1.00
R7237:AU018091	UTSW	7	3159166	missense	probably benign	0.00
R7366:AU018091	UTSW	7	3156330	missense	probably damaging	1.00
R7956:AU018091	UTSW	7	3161255	missense	probably benign	0.02
R9421:AU018091	UTSW	7	3158245	missense	probably benign	0.12
R9492:AU018091	UTSW	7	3164193	missense	probably benign	0.02
R9700:AU018091	UTSW	7	3158325	missense	probably benign
R9720:AU018091	UTSW	7	3159432	missense	probably benign	0.12
R9796:AU018091	UTSW	7	3163955	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CTGTAGAGATATGCGGAACCC -3'
(R):5'- GCCCAAGTGCTTGAATTAAAGG -3'

Sequencing Primer
(F):5'- AACCCGAGCATGGTACCCTG -3'
(R):5'- ACCCTGTCAGGTGATTATTCAAG -3'

Posted On

2018-09-12