Mutagenetix > Incidental Mutation

Incidental Mutation 'R1185:Ac165356.1'

200857

Institutional Source

Beutler Lab

Gene Symbol

Ac165356.1

Ensembl Gene

Gene Name

Synonyms

MMRRC Submission

039257-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.310) question?

Stock #

R1185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

(GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 105682686 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 190 (A190T)

Gene Model

predicted gene model for transcript(s):

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176647

Predicted Effect

probably benign
Transcript: ENSMUST00000180034
AA Change: A190T

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137556
Gene: ENSMUSG00000095649
AA Change: A190T

Domain	Start	End	E-Value	Type
low complexity region	104	116	N/A	INTRINSIC
low complexity region	414	425	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000183386

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.4%
20x: 92.9%

Validation Efficiency

96% (45/47)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aimp2	A	G	5: 143,841,509 (GRCm39)	S110P	possibly damaging	Het
Akap9	A	G	5: 3,998,783 (GRCm39)	T51A	probably benign	Het
Arhgef25	A	G	10: 127,019,650 (GRCm39)	F430L	possibly damaging	Het
Brap	T	C	5: 121,813,342 (GRCm39)	V235A	probably damaging	Het
Cd69	C	T	6: 129,247,148 (GRCm39)	G23D	probably damaging	Het
Cecr2	C	T	6: 120,735,166 (GRCm39)	R24*	probably null	Het
Celsr2	T	C	3: 108,307,025 (GRCm39)	D1974G	possibly damaging	Het
Cps1	A	G	1: 67,234,358 (GRCm39)	K915R	probably benign	Het
Csmd1	T	C	8: 16,408,362 (GRCm39)	D401G	probably damaging	Het
Dusp13b	A	G	14: 21,785,086 (GRCm39)	F141S	probably damaging	Het
Eif1ad19	A	G	12: 87,740,478 (GRCm39)	V27A	probably benign	Het
Fam162b	A	G	10: 51,466,439 (GRCm39)	W27R	probably benign	Het
Focad	A	G	4: 88,096,424 (GRCm39)	T269A	probably benign	Het
Ghr	T	A	15: 3,357,544 (GRCm39)	R241S	possibly damaging	Het
Hirip3	AAGAG	AAG	7: 126,462,832 (GRCm39)		probably null	Het
Ift70a1	A	T	2: 75,810,696 (GRCm39)	N462K	probably damaging	Het
Itgb2l	A	G	16: 96,230,240 (GRCm39)	Y357H	possibly damaging	Het
Jrkl	T	C	9: 13,244,938 (GRCm39)	D241G	possibly damaging	Het
Lmod1	A	G	1: 135,291,967 (GRCm39)	D274G	probably benign	Het
Lrrn2	A	G	1: 132,866,959 (GRCm39)	S675G	probably benign	Het
Ltbp4	G	C	7: 27,009,960 (GRCm39)	P1200R	probably damaging	Het
Mdn1	T	C	4: 32,735,576 (GRCm39)	L3414P	possibly damaging	Het
Muc19	A	G	15: 91,762,743 (GRCm39)		noncoding transcript	Het
Myo16	T	A	8: 10,683,624 (GRCm39)	S1856T	probably damaging	Het
Neb	A	G	2: 52,186,310 (GRCm39)	Y921H	probably damaging	Het
Or2n1c	T	A	17: 38,520,074 (GRCm39)	*313R	probably null	Het
Pgap3	T	C	11: 98,281,960 (GRCm39)	D117G	probably damaging	Het
Ppp1r9b	T	C	11: 94,892,812 (GRCm39)	F671L	possibly damaging	Het
Purg	T	G	8: 33,876,897 (GRCm39)	Y178*	probably null	Het
Rsph10b	G	A	5: 143,903,280 (GRCm39)		probably benign	Het
Sorbs1	T	A	19: 40,371,050 (GRCm39)	D79V	probably damaging	Het
Tcaf3	T	C	6: 42,568,368 (GRCm39)	T663A	probably damaging	Het
Timd4	C	A	11: 46,708,475 (GRCm39)	T167K	probably damaging	Het
Tjp2	A	G	19: 24,108,527 (GRCm39)	L195P	possibly damaging	Het
Tnr	G	A	1: 159,679,856 (GRCm39)	A277T	probably benign	Het
Trpm3	G	A	19: 22,891,781 (GRCm39)		probably benign	Het
Unc13a	C	T	8: 72,114,477 (GRCm39)	G181D	probably benign	Het
Vmn1r11	T	A	6: 57,114,492 (GRCm39)	L52Q	possibly damaging	Het
Zfp27	T	C	7: 29,595,254 (GRCm39)	D237G	possibly damaging	Het
Zfp39	T	C	11: 58,793,670 (GRCm39)	T23A	possibly damaging	Het
Zfp459	T	G	13: 67,556,600 (GRCm39)	N161T	probably benign	Het

Other mutations in Ac165356.1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1185:Ac165356.1	UTSW	7	105,682,686 (GRCm39)	missense	probably benign	0.39

Predicted Primers

PCR Primer
(F):5'- GCCTGTCTGTTTTGACCCATACCAG -3'
(R):5'- CTGAGACAAGCAATGGAGATCCCTG -3'

Sequencing Primer
(F):5'- CGCCTTTAACCAAGGAAGTTG -3'
(R):5'- AGATCCCTGAGGAGTGCTG -3'

Posted On

2014-05-23