Mutagenetix > Incidental Mutation

Incidental Mutation 'R7058:BC028528'

548040

Institutional Source

Beutler Lab

Gene Symbol

BC028528

Ensembl Gene

ENSMUSG00000038543

Gene Name

cDNA sequence BC028528

Synonyms

L259

MMRRC Submission

045155-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.076) question?

Stock #

R7058 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

95791266-95799317 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 95792323 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Isoleucine at position 137 (L137I)

Ref Sequence

ENSEMBL: ENSMUSP00000127666 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000036360] [ENSMUST00000036418] [ENSMUST00000090476] [ENSMUST00000159739] [ENSMUST00000159863] [ENSMUST00000161866] [ENSMUST00000161867] [ENSMUST00000161994] [ENSMUST00000171519]

AlphaFold

no structure available at present

Predicted Effect

possibly damaging
Transcript: ENSMUST00000036360
AA Change: L136I

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000046810
Gene: ENSMUSG00000038543
AA Change: L136I

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	145	3.6e-64	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000036418

SMART Domains

Protein: ENSMUSP00000049308
Gene: ENSMUSG00000038550

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	52	61	N/A	INTRINSIC
low complexity region	300	315	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090476
AA Change: L137I

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000102749
Gene: ENSMUSG00000038543
AA Change: L137I

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.8e-65	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159739

SMART Domains

Protein: ENSMUSP00000124943
Gene: ENSMUSG00000038550

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	52	61	N/A	INTRINSIC
Pfam:DUF4664	85	361	3.3e-170	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000159863

Predicted Effect

probably benign
Transcript: ENSMUST00000161866

SMART Domains

Protein: ENSMUSP00000135072
Gene: ENSMUSG00000038550

Domain	Start	End	E-Value	Type
low complexity region	166	181	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000161867

Predicted Effect

probably benign
Transcript: ENSMUST00000161994

SMART Domains

Protein: ENSMUSP00000124125
Gene: ENSMUSG00000038550

Domain	Start	End	E-Value	Type
low complexity region	2	33	N/A	INTRINSIC
low complexity region	52	61	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000171519
AA Change: L137I

PolyPhen 2 Score 0.843 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127666
Gene: ENSMUSG00000038543
AA Change: L137I

Domain	Start	End	E-Value	Type
Pfam:DUF4634	1	146	1.5e-65	PFAM

Coding Region Coverage

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

Validation Efficiency

100% (87/87)

Allele List at MGI

Other mutations in this stock

Total: 87 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	T	C	7: 41,275,554 (GRCm39)	I419T	possibly damaging	Het
Afap1	T	C	5: 36,119,604 (GRCm39)	V294A	probably benign	Het
Amotl1	T	A	9: 14,486,532 (GRCm39)	Q454L	possibly damaging	Het
Ap2a1	T	C	7: 44,550,215 (GRCm39)	S961G	probably damaging	Het
Asxl3	A	G	18: 22,650,731 (GRCm39)	K907E	probably damaging	Het
Cand1	A	T	10: 119,047,659 (GRCm39)	N610K	probably benign	Het
Cat	A	G	2: 103,304,698 (GRCm39)	I109T	probably benign	Het
Ccdc18	T	C	5: 108,341,664 (GRCm39)	V853A	probably benign	Het
Chd4	C	A	6: 125,085,405 (GRCm39)	D805E	possibly damaging	Het
Cnih1	A	C	14: 47,017,652 (GRCm39)	F77V	probably damaging	Het
Cntd1	A	T	11: 101,178,252 (GRCm39)	I284F	probably damaging	Het
Col6a3	C	A	1: 90,755,759 (GRCm39)	E177*	probably null	Het
Cpxm2	T	A	7: 131,745,408 (GRCm39)	D139V	probably benign	Het
Cyp1a2	G	T	9: 57,584,525 (GRCm39)	R510S	probably damaging	Het
D2hgdh	T	C	1: 93,763,096 (GRCm39)	S294P	probably damaging	Het
Dchs1	A	G	7: 105,406,228 (GRCm39)	C2335R	probably benign	Het
Disc1	G	T	8: 125,977,724 (GRCm39)	C719F	probably damaging	Het
Dnah14	A	C	1: 181,525,614 (GRCm39)	D2180A	probably benign	Het
Dop1b	G	A	16: 93,573,878 (GRCm39)	R1582Q	probably benign	Het
Dsg2	A	T	18: 20,725,332 (GRCm39)	H481L	probably benign	Het
Epha6	A	G	16: 59,503,013 (GRCm39)	S965P	probably damaging	Het
Esrrg	G	T	1: 187,882,503 (GRCm39)	L253F	probably damaging	Het
Exoc6b	T	C	6: 84,831,704 (GRCm39)	K438R	probably damaging	Het
Fam98a	C	A	17: 75,845,384 (GRCm39)	R454L	unknown	Het
Fam98c	A	T	7: 28,855,308 (GRCm39)		probably null	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Galnt13	A	G	2: 54,988,587 (GRCm39)	T470A	probably damaging	Het
Ggt7	A	T	2: 155,345,015 (GRCm39)		probably null	Het
Golim4	T	C	3: 75,785,957 (GRCm39)	E606G	probably damaging	Het
Gpd2	G	A	2: 57,197,112 (GRCm39)		probably null	Het
Grin2b	T	C	6: 135,757,304 (GRCm39)	M386V	probably damaging	Het
Hfm1	A	T	5: 107,059,306 (GRCm39)	S239T	probably benign	Het
Hmcn1	G	A	1: 150,649,641 (GRCm39)	T615I	probably benign	Het
Hook2	G	A	8: 85,724,040 (GRCm39)	E446K	possibly damaging	Het
Hsd3b1	C	T	3: 98,765,131 (GRCm39)		probably null	Het
Igsf9b	A	G	9: 27,234,150 (GRCm39)	Y421C	probably damaging	Het
Il21	A	G	3: 37,286,629 (GRCm39)	L29P	probably damaging	Het
Ildr1	A	G	16: 36,542,730 (GRCm39)	S421G	probably benign	Het
Kat2b	C	A	17: 53,972,894 (GRCm39)	T736K	probably benign	Het
Kcng1	A	G	2: 168,104,529 (GRCm39)	V439A	probably damaging	Het
Kif21a	A	T	15: 90,833,106 (GRCm39)		probably null	Het
Lat	A	G	7: 125,968,318 (GRCm39)		probably null	Het
Mastl	T	A	2: 23,023,425 (GRCm39)	K433*	probably null	Het
Mettl2	A	G	11: 105,019,719 (GRCm39)	R119G	probably benign	Het
Mia2	C	T	12: 59,231,021 (GRCm39)	P1223L	possibly damaging	Het
Mkrn2os	G	T	6: 115,563,635 (GRCm39)	D133E	probably benign	Het
Mslnl	A	G	17: 25,962,186 (GRCm39)	T195A	probably benign	Het
Muc16	T	G	9: 18,551,051 (GRCm39)	T5081P	probably benign	Het
Mylpf	G	C	7: 126,813,139 (GRCm39)	R110P	probably damaging	Het
Myo19	G	T	11: 84,798,194 (GRCm39)	C738F	possibly damaging	Het
Nat8f4	T	A	6: 85,878,271 (GRCm39)	N84I	possibly damaging	Het
Nol8	C	T	13: 49,829,862 (GRCm39)	R1104C	probably damaging	Het
Notch1	A	T	2: 26,353,830 (GRCm39)	D1932E	probably benign	Het
Nsun3	A	T	16: 62,596,663 (GRCm39)	C152S	possibly damaging	Het
Opcml	G	A	9: 28,586,507 (GRCm39)	W75*	probably null	Het
Or14j10	A	G	17: 37,934,597 (GRCm39)	F310L	probably benign	Het
Pcdh7	G	A	5: 57,879,582 (GRCm39)	E1046K	probably damaging	Het
Pcdhb9	T	A	18: 37,536,334 (GRCm39)	V776D	probably benign	Het
Pla2g4a	A	G	1: 149,727,103 (GRCm39)	L551S	probably damaging	Het
Plaa	G	A	4: 94,458,060 (GRCm39)	Q637*	probably null	Het
Plekhh1	A	T	12: 79,122,204 (GRCm39)	E1099V	probably damaging	Het
Ppp4r1	A	T	17: 66,136,495 (GRCm39)	N551Y	probably benign	Het
R3hdm2	T	C	10: 127,320,382 (GRCm39)	V554A	probably damaging	Het
Rab44	A	G	17: 29,357,150 (GRCm39)		probably null	Het
Rab5c	G	A	11: 100,610,789 (GRCm39)	R40C	probably damaging	Het
Rasgrf2	T	C	13: 92,034,521 (GRCm39)	T1119A	probably damaging	Het
Rims2	A	G	15: 39,449,044 (GRCm39)	D1194G	probably damaging	Het
Scarb1	A	T	5: 125,374,294 (GRCm39)	C280S	probably damaging	Het
Sde2	T	C	1: 180,693,827 (GRCm39)	F439S	probably damaging	Het
Setd5	T	C	6: 113,092,532 (GRCm39)	I304T	probably benign	Het
Sipa1l1	A	G	12: 82,449,896 (GRCm39)	E1106G	probably benign	Het
Sis	T	G	3: 72,810,940 (GRCm39)	S1694R	probably damaging	Het
Smad9	T	A	3: 54,693,614 (GRCm39)	F181Y	probably benign	Het
Smg1	A	G	7: 117,797,502 (GRCm39)		probably benign	Het
Sspo	T	C	6: 48,425,516 (GRCm39)	Y46H	probably damaging	Het
Tdrd12	A	G	7: 35,177,534 (GRCm39)	M940T	unknown	Het
Tmem44	G	T	16: 30,366,213 (GRCm39)	T71K	possibly damaging	Het
Tmf1	T	A	6: 97,133,911 (GRCm39)	E1009V	probably damaging	Het
Ttc39a	C	T	4: 109,288,763 (GRCm39)	R288W	probably damaging	Het
Ttc9c	G	A	19: 8,796,191 (GRCm39)		probably benign	Het
Usp28	T	A	9: 48,950,456 (GRCm39)	Y634N	probably damaging	Het
Vmn1r211	C	T	13: 23,036,063 (GRCm39)	M201I	probably benign	Het
Vmn2r54	T	A	7: 12,349,722 (GRCm39)	Q620L	possibly damaging	Het
Vps13c	T	C	9: 67,831,110 (GRCm39)	L1580P	probably benign	Het
Vrk3	C	A	7: 44,417,890 (GRCm39)	F308L	probably damaging	Het
Zdbf2	T	A	1: 63,346,563 (GRCm39)	H1647Q	possibly damaging	Het
Zfp984	A	T	4: 147,840,002 (GRCm39)	M283K	probably benign	Het

Other mutations in BC028528

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01686:BC028528	APN	3	95,796,212 (GRCm39)	missense	probably damaging	1.00
R0157:BC028528	UTSW	3	95,792,280 (GRCm39)	critical splice donor site	probably null
R0164:BC028528	UTSW	3	95,794,646 (GRCm39)	intron	probably benign
R0306:BC028528	UTSW	3	95,797,132 (GRCm39)	unclassified	probably benign
R1478:BC028528	UTSW	3	95,799,271 (GRCm39)	splice site	probably null
R4204:BC028528	UTSW	3	95,797,057 (GRCm39)	nonsense	probably null
R4649:BC028528	UTSW	3	95,795,577 (GRCm39)	missense	probably damaging	0.99
R5022:BC028528	UTSW	3	95,796,135 (GRCm39)	intron	probably benign
R6541:BC028528	UTSW	3	95,795,530 (GRCm39)	missense	probably benign	0.00
R6683:BC028528	UTSW	3	95,795,539 (GRCm39)	missense	probably damaging	1.00
R6980:BC028528	UTSW	3	95,795,480 (GRCm39)	small insertion	probably benign
R6980:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R6980:BC028528	UTSW	3	95,795,451 (GRCm39)	small insertion	probably benign
R7180:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7308:BC028528	UTSW	3	95,795,481 (GRCm39)	small insertion	probably benign
R7308:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7308:BC028528	UTSW	3	95,795,464 (GRCm39)	small insertion	probably benign
R7310:BC028528	UTSW	3	95,795,460 (GRCm39)	small insertion	probably benign
R7310:BC028528	UTSW	3	95,795,485 (GRCm39)	small insertion	probably benign
R7310:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7310:BC028528	UTSW	3	95,795,451 (GRCm39)	small insertion	probably benign
R7356:BC028528	UTSW	3	95,795,470 (GRCm39)	small insertion	probably benign
R7356:BC028528	UTSW	3	95,795,477 (GRCm39)	small insertion	probably benign
R7356:BC028528	UTSW	3	95,795,487 (GRCm39)	small insertion	probably benign
R7356:BC028528	UTSW	3	95,795,495 (GRCm39)	small insertion	probably benign
R7356:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7356:BC028528	UTSW	3	95,795,453 (GRCm39)	small insertion	probably benign
R7376:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7430:BC028528	UTSW	3	95,795,481 (GRCm39)	small insertion	probably benign
R7430:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7490:BC028528	UTSW	3	95,795,498 (GRCm39)	small insertion	probably benign
R7490:BC028528	UTSW	3	95,795,478 (GRCm39)	small insertion	probably benign
R7490:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7491:BC028528	UTSW	3	95,795,450 (GRCm39)	small insertion	probably benign
R7491:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7565:BC028528	UTSW	3	95,795,456 (GRCm39)	small insertion	probably benign
R7565:BC028528	UTSW	3	95,795,450 (GRCm39)	small insertion	probably benign
R7565:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7568:BC028528	UTSW	3	95,795,484 (GRCm39)	small insertion	probably benign
R7568:BC028528	UTSW	3	95,795,463 (GRCm39)	small insertion	probably benign
R7568:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7635:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7672:BC028528	UTSW	3	95,795,487 (GRCm39)	small insertion	probably benign
R7672:BC028528	UTSW	3	95,795,455 (GRCm39)	small insertion	probably benign
R7672:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7909:BC028528	UTSW	3	95,795,476 (GRCm39)	small insertion	probably benign
R7909:BC028528	UTSW	3	95,795,475 (GRCm39)	small insertion	probably benign
R7909:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7909:BC028528	UTSW	3	95,795,489 (GRCm39)	small insertion	probably benign
R7909:BC028528	UTSW	3	95,795,480 (GRCm39)	small insertion	probably benign
R7912:BC028528	UTSW	3	95,795,448 (GRCm39)	small insertion	probably benign
R7912:BC028528	UTSW	3	95,795,483 (GRCm39)	small insertion	probably benign
R7912:BC028528	UTSW	3	95,795,466 (GRCm39)	small insertion	probably benign
R7912:BC028528	UTSW	3	95,795,456 (GRCm39)	small insertion	probably benign
R7912:BC028528	UTSW	3	95,795,454 (GRCm39)	small insertion	probably benign
R7912:BC028528	UTSW	3	95,795,452 (GRCm39)	small insertion	probably benign
R7912:BC028528	UTSW	3	95,795,450 (GRCm39)	small insertion	probably benign
R7958:BC028528	UTSW	3	95,796,224 (GRCm39)	missense	probably benign	0.01
R8337:BC028528	UTSW	3	95,792,298 (GRCm39)	missense	probably benign	0.03
R9288:BC028528	UTSW	3	95,799,227 (GRCm39)	missense	probably benign	0.00
R9454:BC028528	UTSW	3	95,797,082 (GRCm39)	missense	possibly damaging	0.95

Predicted Primers

PCR Primer
(F):5'- ATTTCTAAAGGTGATCCTGCTTCC -3'
(R):5'- AGTTGTGGCCTCCCAAGTAG -3'

Sequencing Primer
(F):5'- GCTTCCTTCTTTTCGTATGAGAATTG -3'
(R):5'- TCTCCTTTGAGACCACAGGTAAAG -3'

Posted On

2019-05-13