Mutagenetix > Incidental Mutation

Incidental Mutation 'R5199:AW554918'

400638

Institutional Source

Beutler Lab

Gene Symbol

AW554918

Ensembl Gene

ENSMUSG00000033632

Gene Name

expressed sequence AW554918

Synonyms

MMRRC Submission

042775-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.063) question?

Stock #

R5199 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

25302056-25600378 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 25473356 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 387 (R387S)

Ref Sequence

ENSEMBL: ENSMUSP00000128437 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036619] [ENSMUST00000097643] [ENSMUST00000100131] [ENSMUST00000159605] [ENSMUST00000160530] [ENSMUST00000165400]

AlphaFold

Q6NZK5

Predicted Effect

probably damaging
Transcript: ENSMUST00000036619
AA Change: R387S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000046227
Gene: ENSMUSG00000033632
AA Change: R387S

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.4e-154	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000097643
AA Change: R387S

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000095248
Gene: ENSMUSG00000033632
AA Change: R387S

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	2.5e-154	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000100131
AA Change: R184S

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000097708
Gene: ENSMUSG00000033632
AA Change: R184S

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	1	211	9.6e-81	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159605

Predicted Effect

probably benign
Transcript: ENSMUST00000160530

Predicted Effect

probably damaging
Transcript: ENSMUST00000165400
AA Change: R387S

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

SMART Domains

Protein: ENSMUSP00000128437
Gene: ENSMUSG00000033632
AA Change: R387S

Domain	Start	End	E-Value	Type
Pfam:KIAA1328	92	414	1.6e-160	PFAM

Meta Mutation Damage Score

0.1481

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.7%

Validation Efficiency

100% (57/57)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl2fm1	T	C	3: 59,843,906 (GRCm39)	L200P	probably damaging	Het
Adam1a	T	C	5: 121,659,215 (GRCm39)	E26G	probably benign	Het
Adar	T	A	3: 89,653,251 (GRCm39)	M797K	probably damaging	Het
Amdhd1	A	T	10: 93,361,847 (GRCm39)	C352S	probably damaging	Het
Cabp1	A	G	5: 115,324,102 (GRCm39)	V5A	possibly damaging	Het
Carmil1	A	G	13: 24,295,853 (GRCm39)	L387P	probably damaging	Het
Cds2	T	A	2: 132,140,403 (GRCm39)	H200Q	probably damaging	Het
Cep170b	T	A	12: 112,710,581 (GRCm39)	L1470Q	probably damaging	Het
Cnnm1	A	G	19: 43,483,425 (GRCm39)	D956G	possibly damaging	Het
Cnot8	C	T	11: 58,006,100 (GRCm39)	Q210*	probably null	Het
Cpne8	G	A	15: 90,532,812 (GRCm39)	T65I	probably benign	Het
Crygn	A	G	5: 24,961,156 (GRCm39)	V50A	probably damaging	Het
Cxcr4	A	G	1: 128,517,283 (GRCm39)	V126A	probably damaging	Het
Cyp4f15	A	G	17: 32,921,346 (GRCm39)	D464G	probably benign	Het
Dapp1	C	T	3: 137,687,146 (GRCm39)	S12N	probably benign	Het
Dhps	G	A	8: 85,800,035 (GRCm39)	G162R	probably damaging	Het
Dsp	T	G	13: 38,376,878 (GRCm39)	Y1554*	probably null	Het
Etl4	G	T	2: 20,748,853 (GRCm39)	R397L	probably damaging	Het
Ezh2	C	T	6: 47,528,659 (GRCm39)	C291Y	probably benign	Het
Gbp9	T	C	5: 105,231,678 (GRCm39)	S303G	probably benign	Het
Gm11444	A	C	11: 85,738,845 (GRCm39)	S83A	unknown	Het
Gpat4	A	G	8: 23,672,712 (GRCm39)	V46A	possibly damaging	Het
Haus6	T	C	4: 86,501,222 (GRCm39)	D883G	possibly damaging	Het
Hinfp	T	C	9: 44,207,689 (GRCm39)	E439G	probably benign	Het
Ifna14	T	A	4: 88,489,599 (GRCm39)	Y146F	probably damaging	Het
Igkv3-3	A	T	6: 70,664,488 (GRCm39)	Y110F	probably damaging	Het
Kansl2-ps	A	G	7: 72,322,942 (GRCm39)		noncoding transcript	Het
Klrh1	T	A	6: 129,752,781 (GRCm39)	Y8F	possibly damaging	Het
Mcmdc2	T	C	1: 9,990,660 (GRCm39)	V279A	probably benign	Het
Mug2	T	A	6: 122,017,619 (GRCm39)	V452D	probably benign	Het
Ndufb3	C	G	1: 58,630,281 (GRCm39)		probably benign	Het
Oas1d	G	T	5: 121,057,208 (GRCm39)	K271N	probably benign	Het
Or4c110	T	A	2: 88,832,107 (GRCm39)	H175L	possibly damaging	Het
Or5ac21	T	A	16: 59,124,103 (GRCm39)	F196I	probably benign	Het
Or9g3	A	G	2: 85,590,558 (GRCm39)	L54P	probably damaging	Het
Otx1	C	A	11: 21,947,037 (GRCm39)	A91S	probably damaging	Het
Pcnt	T	A	10: 76,254,378 (GRCm39)	H817L	probably benign	Het
Per3	G	T	4: 151,097,352 (GRCm39)	S724R	probably benign	Het
Phlpp1	T	A	1: 106,101,124 (GRCm39)	V464E	probably damaging	Het
Psme4	A	G	11: 30,803,272 (GRCm39)	E38G	probably benign	Het
Qtrt2	T	C	16: 43,687,788 (GRCm39)	N264S	probably benign	Het
Ranbp2	G	A	10: 58,300,265 (GRCm39)	R557H	probably benign	Het
Rptor	T	A	11: 119,494,642 (GRCm39)	S3T	probably benign	Het
Saxo1	T	A	4: 86,406,019 (GRCm39)	Y60F	probably damaging	Het
St3gal1	A	G	15: 66,985,564 (GRCm39)	V30A	probably benign	Het
Tmem245	G	A	4: 56,925,149 (GRCm39)	S324L	probably benign	Het
Topbp1	A	G	9: 103,223,871 (GRCm39)		probably benign	Het
Urb1	T	C	16: 90,589,636 (GRCm39)	T382A	possibly damaging	Het
Vmn1r178	A	T	7: 23,593,814 (GRCm39)	L214F	probably benign	Het
Vmn2r82	G	A	10: 79,231,921 (GRCm39)	C640Y	probably damaging	Het
Vsx2	A	G	12: 84,639,984 (GRCm39)	D281G	probably benign	Het
Zfp804b	A	T	5: 6,820,013 (GRCm39)	C1017S	probably benign	Het

Other mutations in AW554918

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00499:AW554918	APN	18	25,553,122 (GRCm39)	nonsense	probably null
IGL01443:AW554918	APN	18	25,478,012 (GRCm39)	missense	probably damaging	1.00
IGL01973:AW554918	APN	18	25,553,056 (GRCm39)	missense	probably damaging	1.00
IGL02743:AW554918	APN	18	25,423,001 (GRCm39)	nonsense	probably null
PIT4802001:AW554918	UTSW	18	25,473,132 (GRCm39)	missense	possibly damaging	0.90
R0081:AW554918	UTSW	18	25,477,959 (GRCm39)	missense	probably benign	0.00
R0567:AW554918	UTSW	18	25,533,092 (GRCm39)	missense	possibly damaging	0.83
R0709:AW554918	UTSW	18	25,596,711 (GRCm39)	missense	probably damaging	1.00
R1052:AW554918	UTSW	18	25,553,067 (GRCm39)	missense	probably benign	0.05
R1418:AW554918	UTSW	18	25,472,756 (GRCm39)	splice site	probably null
R1530:AW554918	UTSW	18	25,533,161 (GRCm39)	missense	probably damaging	0.97
R2406:AW554918	UTSW	18	25,473,344 (GRCm39)	missense	possibly damaging	0.95
R3414:AW554918	UTSW	18	25,533,129 (GRCm39)	missense	possibly damaging	0.76
R3815:AW554918	UTSW	18	25,533,104 (GRCm39)	missense	probably benign	0.42
R4683:AW554918	UTSW	18	25,472,852 (GRCm39)	missense	probably benign	0.04
R4722:AW554918	UTSW	18	25,307,772 (GRCm39)	nonsense	probably null
R4843:AW554918	UTSW	18	25,473,057 (GRCm39)	missense	probably benign	0.00
R5279:AW554918	UTSW	18	25,308,488 (GRCm39)	missense	possibly damaging	0.95
R5580:AW554918	UTSW	18	25,472,922 (GRCm39)	missense	probably damaging	1.00
R7259:AW554918	UTSW	18	25,422,906 (GRCm39)	splice site	probably null
R7388:AW554918	UTSW	18	25,473,170 (GRCm39)	missense	probably benign	0.05
R7399:AW554918	UTSW	18	25,302,117 (GRCm39)	missense	possibly damaging	0.67
R8249:AW554918	UTSW	18	25,472,775 (GRCm39)	missense	probably benign	0.33
R8905:AW554918	UTSW	18	25,473,206 (GRCm39)	missense	probably damaging	1.00
R8916:AW554918	UTSW	18	25,423,049 (GRCm39)	missense	probably damaging	1.00
R9256:AW554918	UTSW	18	25,423,061 (GRCm39)	missense	probably damaging	1.00
R9794:AW554918	UTSW	18	25,337,031 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AAGTGGAGCTTATGTTCATGAGAAC -3'
(R):5'- CCTGTTCTCTAGCAAGTCAAGG -3'

Sequencing Primer
(F):5'- ATGGCCCCTCAATGTTGTAAGAC -3'
(R):5'- CAAGTCAAGGTGCTGAAAAATCTC -3'

Posted On

2016-07-06