Mutagenetix > Incidental Mutation

Incidental Mutation 'R7006:AW146154'

544720

Institutional Source

Beutler Lab

Gene Symbol

AW146154

Ensembl Gene

ENSMUSG00000074166

Gene Name

expressed sequence AW146154

Synonyms

MMRRC Submission

045011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.093) question?

Stock #

R7006 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41128298-41149314 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41130648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 156 (E156G)

Ref Sequence

ENSEMBL: ENSMUSP00000096109 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094532] [ENSMUST00000098509]

AlphaFold

Q3TPQ7

Predicted Effect

probably benign
Transcript: ENSMUST00000094532

Predicted Effect

possibly damaging
Transcript: ENSMUST00000098509
AA Change: E156G

PolyPhen 2 Score 0.503 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000096109
Gene: ENSMUSG00000074166
AA Change: E156G

Domain	Start	End	E-Value	Type
KRAB	4	66	9.86e-14	SMART
ZnF_C2H2	75	97	9.08e1	SMART
ZnF_C2H2	131	153	7.78e-3	SMART
ZnF_C2H2	159	181	4.72e-2	SMART
ZnF_C2H2	187	209	3.63e-3	SMART
ZnF_C2H2	215	237	8.47e-4	SMART
ZnF_C2H2	243	265	4.24e-4	SMART
ZnF_C2H2	271	293	5.81e-2	SMART
ZnF_C2H2	299	321	2.61e-4	SMART
ZnF_C2H2	327	349	2.12e-4	SMART
ZnF_C2H2	355	377	1.6e-4	SMART
ZnF_C2H2	383	405	8.47e-4	SMART
ZnF_C2H2	411	433	6.88e-4	SMART
ZnF_C2H2	439	461	1.6e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	A	G	4: 144,447,853 (GRCm39)	V41A	probably benign	Het
Adcy2	G	A	13: 69,036,139 (GRCm39)	T174M	probably damaging	Het
Ankfy1	T	A	11: 72,631,290 (GRCm39)	I412N	probably benign	Het
B4galnt1	T	C	10: 127,005,700 (GRCm39)	L267P	probably benign	Het
Bod1l	T	C	5: 41,989,895 (GRCm39)	E276G	probably damaging	Het
Ccdc187	T	C	2: 26,171,102 (GRCm39)	T459A	probably benign	Het
Ccdc196	T	A	12: 78,255,702 (GRCm39)	*177R	probably null	Het
Cep72	G	A	13: 74,198,427 (GRCm39)	Q311*	probably null	Het
Cir1	T	C	2: 73,140,834 (GRCm39)	Q45R	probably damaging	Het
Ciz1	T	C	2: 32,261,127 (GRCm39)		probably null	Het
Crtap	G	T	9: 114,215,391 (GRCm39)	A166E	probably damaging	Het
Dipk1a	A	G	5: 108,058,027 (GRCm39)	V132A	probably benign	Het
Dmp1	A	G	5: 104,360,188 (GRCm39)	D288G	probably benign	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmnl2	C	A	2: 52,998,266 (GRCm39)	Q544K	probably benign	Het
Gpsm1	T	C	2: 26,212,572 (GRCm39)	L72P	probably damaging	Het
Gys1	G	A	7: 45,089,437 (GRCm39)	A199T	probably damaging	Het
Kcnq3	A	C	15: 65,892,165 (GRCm39)	Y403*	probably null	Het
Kcp	A	C	6: 29,499,169 (GRCm39)	Y298D	probably damaging	Het
Kif5c	T	C	2: 49,625,526 (GRCm39)	S599P	probably damaging	Het
Krt20	A	T	11: 99,328,587 (GRCm39)	Y113N	probably benign	Het
Mcm8	T	G	2: 132,665,181 (GRCm39)	V191G	probably damaging	Het
Msr1	T	A	8: 40,042,423 (GRCm39)	D384V	probably damaging	Het
Mtpap	A	C	18: 4,380,873 (GRCm39)	S184R	possibly damaging	Het
Npc1l1	G	A	11: 6,167,731 (GRCm39)	T1020M	probably benign	Het
Nphp4	A	G	4: 152,573,259 (GRCm39)	T66A	probably benign	Het
Or1o3	T	A	17: 37,573,625 (GRCm39)	*310L	probably null	Het
Or4f14	C	A	2: 111,742,601 (GRCm39)	V225L	probably benign	Het
Or8h10	G	A	2: 86,808,303 (GRCm39)	T279I	probably damaging	Het
Or8k18	T	A	2: 86,085,572 (GRCm39)	Q155L	probably benign	Het
Phf11d	G	T	14: 59,590,823 (GRCm39)	T178K	probably benign	Het
Ppm1d	A	G	11: 85,227,977 (GRCm39)	K298E	possibly damaging	Het
Rab2b	A	T	14: 52,503,690 (GRCm39)	I144K	probably benign	Het
Stoml1	A	G	9: 58,167,523 (GRCm39)	D5G	probably damaging	Het
Styxl2	T	C	1: 165,926,663 (GRCm39)	N983S	probably benign	Het
Tanc1	T	C	2: 59,626,188 (GRCm39)	V515A	probably damaging	Het
Tas1r3	A	G	4: 155,947,361 (GRCm39)	V108A	possibly damaging	Het
Tifab	T	C	13: 56,324,059 (GRCm39)	Y128C	probably benign	Het
Tmc6	G	T	11: 117,665,083 (GRCm39)	R397S	probably damaging	Het
Tnpo3	C	T	6: 29,589,162 (GRCm39)	A63T	probably damaging	Het
Trgc4	T	A	13: 19,528,995 (GRCm39)		probably benign	Het
Usp16	G	T	16: 87,268,724 (GRCm39)	C284F	probably damaging	Het
Wipf1	T	C	2: 73,267,441 (GRCm39)	D319G	probably damaging	Het
Xpnpep3	T	A	15: 81,326,649 (GRCm39)	W347R	probably damaging	Het
Zfp180	G	T	7: 23,804,537 (GRCm39)	E319*	probably null	Het

Other mutations in AW146154

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:AW146154	APN	7	41,129,883 (GRCm39)	missense	probably damaging	1.00
R1351:AW146154	UTSW	7	41,129,878 (GRCm39)	missense	probably damaging	1.00
R3763:AW146154	UTSW	7	41,129,794 (GRCm39)	missense	probably damaging	1.00
R4829:AW146154	UTSW	7	41,130,057 (GRCm39)	missense	possibly damaging	0.62
R4835:AW146154	UTSW	7	41,129,892 (GRCm39)	missense	probably damaging	1.00
R5326:AW146154	UTSW	7	41,130,801 (GRCm39)	missense	probably benign	0.00
R5542:AW146154	UTSW	7	41,130,801 (GRCm39)	missense	probably benign	0.00
R5976:AW146154	UTSW	7	41,129,721 (GRCm39)	missense	probably damaging	0.99
R6252:AW146154	UTSW	7	41,130,811 (GRCm39)	missense	probably benign	0.10
R7053:AW146154	UTSW	7	41,131,988 (GRCm39)	critical splice donor site	probably null
R7096:AW146154	UTSW	7	41,130,867 (GRCm39)	missense	probably benign	0.32
R7649:AW146154	UTSW	7	41,130,156 (GRCm39)	missense	probably benign	0.13
R8069:AW146154	UTSW	7	41,129,935 (GRCm39)	missense	probably benign	0.01
R8085:AW146154	UTSW	7	41,130,622 (GRCm39)	missense	probably damaging	1.00
R8085:AW146154	UTSW	7	41,130,621 (GRCm39)	missense	possibly damaging	0.61
R8266:AW146154	UTSW	7	41,130,592 (GRCm39)	nonsense	probably null
R8698:AW146154	UTSW	7	41,129,934 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCATTCATAGGGTTTCTCTCCAG -3'
(R):5'- TGGAAACAAAATGTGGAAACCTT -3'

Sequencing Primer
(F):5'- CCAGTATGTGTTCTTTCATGTAATCG -3'
(R):5'- GACATCATCGCATTCATACTGGAGAG -3'

Posted On

2019-05-13