Mutagenetix > Incidental Mutation

Incidental Mutation 'R7947:AW209491'

649428

Institutional Source

Beutler Lab

Gene Symbol

AW209491

Ensembl Gene

ENSMUSG00000039182

Gene Name

expressed sequence AW209491

Synonyms

MMRRC Submission

045992-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.288) question?

Stock #

R7947 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

14804830-14812787 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 14811447 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Valine at position 100 (E100V)

Ref Sequence

ENSEMBL: ENSMUSP00000041523 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038690] [ENSMUST00000178289] [ENSMUST00000221168] [ENSMUST00000222052]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000038690
AA Change: E100V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000041523
Gene: ENSMUSG00000039182
AA Change: E100V

Domain	Start	End	E-Value	Type
Pfam:DUF1308	38	401	2.2e-115	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000178289
AA Change: E100V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000136376
Gene: ENSMUSG00000039182
AA Change: E100V

Domain	Start	End	E-Value	Type
Pfam:DUF1308	37	401	1.1e-121	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000221168

Predicted Effect

probably benign
Transcript: ENSMUST00000222052
AA Change: E100V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (60/61)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310034C09Rik	A	G	16: 88,555,938 (GRCm39)	T51A	probably benign	Het
Abcc8	A	G	7: 45,754,886 (GRCm39)		probably null	Het
Accs	A	T	2: 93,674,602 (GRCm39)	M123K	probably damaging	Het
Ace	G	A	11: 105,863,880 (GRCm39)	G443S	possibly damaging	Het
Adprhl1	C	T	8: 13,298,682 (GRCm39)	V83I	probably damaging	Het
Arhgap25	T	C	6: 87,440,069 (GRCm39)	D526G	probably benign	Het
Arhgef18	T	C	8: 3,482,775 (GRCm39)	L160P	probably damaging	Het
Arnt	T	G	3: 95,381,837 (GRCm39)		probably null	Het
Art3	A	G	5: 92,540,359 (GRCm39)	N34S	possibly damaging	Het
Avl9	A	T	6: 56,700,526 (GRCm39)	E53D	possibly damaging	Het
Axin2	T	C	11: 108,814,529 (GRCm39)	I139T	probably damaging	Het
Birc7	G	T	2: 180,575,103 (GRCm39)	V280L	probably damaging	Het
Bmal1	T	C	7: 112,886,353 (GRCm39)	Y137H	probably damaging	Het
C1ra	A	G	6: 124,494,338 (GRCm39)	N262D	probably benign	Het
Cacna1g	A	G	11: 94,348,001 (GRCm39)	F696L	probably benign	Het
Casp14	T	A	10: 78,550,079 (GRCm39)		probably null	Het
Ciao2a	A	G	9: 66,045,684 (GRCm39)	I151V	probably benign	Het
Crlf1	T	C	8: 70,951,862 (GRCm39)	Y176H	probably damaging	Het
Dnajb4	A	T	3: 151,892,468 (GRCm39)	S122T	probably benign	Het
Dthd1	G	A	5: 62,971,653 (GRCm39)	D159N	possibly damaging	Het
Erich6	A	T	3: 58,528,699 (GRCm39)	I517N	possibly damaging	Het
Fam118b	T	A	9: 35,129,239 (GRCm39)	H343L	probably benign	Het
Fat2	T	A	11: 55,178,560 (GRCm39)	D1500V	probably damaging	Het
Fcgbp	T	C	7: 27,803,595 (GRCm39)		probably null	Het
Fgfrl1	A	G	5: 108,853,142 (GRCm39)	D255G	probably damaging	Het
Gm9611	G	A	14: 42,118,087 (GRCm39)	Q82*	probably null	Het
Ifit3	G	T	19: 34,565,359 (GRCm39)	E302*	probably null	Het
Igkv3-9	G	A	6: 70,565,737 (GRCm39)	C112Y	probably damaging	Het
Ints4	A	G	7: 97,148,792 (GRCm39)	T233A	probably benign	Het
Khnyn	A	T	14: 56,125,059 (GRCm39)	S438C	probably damaging	Het
Kifc1	T	C	17: 34,102,849 (GRCm39)	R192G	probably benign	Het
Kntc1	T	C	5: 123,919,951 (GRCm39)	S98P	unknown	Het
Krt1c	A	T	15: 101,724,769 (GRCm39)	D280E	probably damaging	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Macf1	T	C	4: 123,295,200 (GRCm39)	I5344V	probably damaging	Het
Mcf2l	A	T	8: 13,053,529 (GRCm39)		probably null	Het
Mms22l	A	C	4: 24,505,373 (GRCm39)	H211P	probably damaging	Het
Nipsnap1	A	G	11: 4,839,145 (GRCm39)	R163G	possibly damaging	Het
Nusap1	A	G	2: 119,477,616 (GRCm39)	N375S	possibly damaging	Het
Or51t4	A	G	7: 102,598,278 (GRCm39)	Y202C	probably damaging	Het
Or52e19b	A	T	7: 103,032,735 (GRCm39)	V158D	possibly damaging	Het
Or8g17	A	G	9: 38,930,747 (GRCm39)	L30P	probably damaging	Het
Phf14	G	A	6: 11,933,306 (GRCm39)	G56D	unknown	Het
Phykpl	G	A	11: 51,477,408 (GRCm39)	V67M	probably damaging	Het
Pigk	A	G	3: 152,453,404 (GRCm39)	D374G	probably benign	Het
Pirb	A	G	7: 3,722,857 (GRCm39)	V45A	probably damaging	Het
Prm3	CTCTTCTTCTTCTTC	CTCTTCTTCTTC	16: 10,608,565 (GRCm39)		probably benign	Het
Rb1cc1	T	C	1: 6,318,786 (GRCm39)	V735A	probably damaging	Het
Rcor2	A	G	19: 7,251,225 (GRCm39)	T333A	possibly damaging	Het
Ret	A	G	6: 118,151,305 (GRCm39)	V593A	probably benign	Het
Scgb1b10	A	T	7: 31,800,570 (GRCm39)	D53V	probably damaging	Het
Sec61a2	G	A	2: 5,881,794 (GRCm39)	A212V	probably damaging	Het
Sgpl1	A	T	10: 60,942,121 (GRCm39)	F245I	probably damaging	Het
Sh2d4b	A	C	14: 40,542,723 (GRCm39)	V351G	probably damaging	Het
Shld2	C	T	14: 33,990,436 (GRCm39)	V157I	probably benign	Het
Slc22a1	T	A	17: 12,871,310 (GRCm39)	M484L	probably benign	Het
Slit1	C	G	19: 41,599,247 (GRCm39)	G1066R	probably damaging	Het
Slit1	A	T	19: 41,599,248 (GRCm39)	D1065E	probably benign	Het
Spg11	G	A	2: 121,922,803 (GRCm39)	A882V	probably damaging	Het
Stab2	A	C	10: 86,681,897 (GRCm39)	F2501L	probably benign	Het
Stim2	A	T	5: 54,275,671 (GRCm39)	K607N	probably damaging	Het
Syde1	C	T	10: 78,425,916 (GRCm39)	V84M	probably damaging	Het
Tepsin	A	T	11: 119,985,061 (GRCm39)	N202K	probably benign	Het
Tmem207	T	A	16: 26,335,495 (GRCm39)	I81F	possibly damaging	Het
Tnc	C	A	4: 63,935,580 (GRCm39)	G452V	probably damaging	Het
Tshz1	G	T	18: 84,033,782 (GRCm39)	Q209K	probably damaging	Het
Ttn	A	T	2: 76,773,696 (GRCm39)	N2308K	unknown	Het
Zfp266	A	G	9: 20,410,548 (GRCm39)	I543T	probably benign	Het
Zfp777	G	T	6: 48,001,645 (GRCm39)	P815Q	probably damaging	Het
Zhx3	A	G	2: 160,623,015 (GRCm39)	I384T	probably damaging	Het

Other mutations in AW209491

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00924:AW209491	APN	13	14,811,660 (GRCm39)	missense	probably damaging	0.98
IGL02634:AW209491	APN	13	14,812,268 (GRCm39)	missense	probably damaging	0.99
IGL02635:AW209491	APN	13	14,811,852 (GRCm39)	missense	possibly damaging	0.46
IGL03401:AW209491	APN	13	14,812,041 (GRCm39)	missense	probably benign
R0067:AW209491	UTSW	13	14,812,328 (GRCm39)	missense	probably benign	0.24
R0067:AW209491	UTSW	13	14,812,328 (GRCm39)	missense	probably benign	0.24
R0536:AW209491	UTSW	13	14,811,558 (GRCm39)	missense	probably damaging	1.00
R0539:AW209491	UTSW	13	14,812,317 (GRCm39)	missense	probably damaging	1.00
R0845:AW209491	UTSW	13	14,811,607 (GRCm39)	missense	probably damaging	1.00
R1851:AW209491	UTSW	13	14,811,318 (GRCm39)	missense	possibly damaging	0.73
R4110:AW209491	UTSW	13	14,812,158 (GRCm39)	missense	probably damaging	1.00
R4379:AW209491	UTSW	13	14,812,412 (GRCm39)	makesense	probably null
R5153:AW209491	UTSW	13	14,811,764 (GRCm39)	missense	probably benign
R5987:AW209491	UTSW	13	14,812,365 (GRCm39)	missense	probably benign	0.00
R5988:AW209491	UTSW	13	14,812,365 (GRCm39)	missense	probably benign	0.00
R5990:AW209491	UTSW	13	14,812,365 (GRCm39)	missense	probably benign	0.00
R6019:AW209491	UTSW	13	14,812,365 (GRCm39)	missense	probably benign	0.00
R6021:AW209491	UTSW	13	14,812,365 (GRCm39)	missense	probably benign	0.00
R6022:AW209491	UTSW	13	14,812,365 (GRCm39)	missense	probably benign	0.00
R6160:AW209491	UTSW	13	14,811,306 (GRCm39)	missense	probably damaging	0.99
R6179:AW209491	UTSW	13	14,811,668 (GRCm39)	missense	possibly damaging	0.92
R6194:AW209491	UTSW	13	14,811,705 (GRCm39)	missense	possibly damaging	0.89
R7594:AW209491	UTSW	13	14,811,831 (GRCm39)	missense	probably benign
R8316:AW209491	UTSW	13	14,812,349 (GRCm39)	missense	probably damaging	0.99
R8425:AW209491	UTSW	13	14,811,921 (GRCm39)	missense	probably damaging	1.00
R9016:AW209491	UTSW	13	14,812,193 (GRCm39)	missense	probably damaging	0.98
R9635:AW209491	UTSW	13	14,811,957 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TCCCGAAAAGGTGGCATAG -3'
(R):5'- TTGCTGTACTGCACCGGTTG -3'

Sequencing Primer
(F):5'- TGGCATAGAAGGTGGCGC -3'
(R):5'- ACCGGTTGCTGTCGACTG -3'

Posted On

2020-09-15