Mutagenetix > Incidental Mutation

Incidental Mutation 'R2967:Gm15448'

263286

Institutional Source

Beutler Lab

Gene Symbol

Gm15448

Ensembl Gene

ENSMUSG00000074419

Gene Name

predicted gene 15448

Synonyms

ENSMUSG00000074419

MMRRC Submission

040523-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R2967 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

3816781-3825687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 3822687 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 394 (R394S)

Ref Sequence

ENSEMBL: ENSMUSP00000104260 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094911] [ENSMUST00000108619] [ENSMUST00000108620] [ENSMUST00000153846] [ENSMUST00000189095]

AlphaFold

F6PZL4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094911
AA Change: R394S

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

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419
AA Change: R394S

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000108619
AA Change: R394S

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: R394S

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG_like	429	517	6.02e0	SMART
IG	529	618	8.01e-3	SMART
low complexity region	637	646	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000108620
AA Change: R394S

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

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419
AA Change: R394S

Domain	Start	End	E-Value	Type
IG_like	40	105	3.26e0	SMART
IG	129	315	1.37e-1	SMART
IG_like	237	302	2.2e-1	SMART
IG	328	415	6.31e-1	SMART
IG	430	519	8.01e-3	SMART
low complexity region	538	547	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000153846
AA Change: R394S

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: R394S

Domain	Start	End	E-Value	Type
IG	7	96	8.01e-3	SMART
low complexity region	132	141	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000189095
AA Change: R394S

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

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: R394S

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
IG_like	40	105	1.3e-2	SMART
IG	129	315	5.7e-4	SMART
IG_like	237	302	9e-4	SMART
IG	328	415	2.6e-3	SMART
IG_like	429	517	2.4e-2	SMART
IG	529	618	3.3e-5	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 24 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	A	G	5: 114,166,070 (GRCm38)	S185G	possibly damaging	Het
Adgra1	G	A	7: 139,875,685 (GRCm38)	E410K	possibly damaging	Het
Aox2	A	T	1: 58,322,834 (GRCm38)	N733I	probably damaging	Het
Bola3	T	A	6: 83,349,298 (GRCm38)	Y24N	probably benign	Het
Cntn6	G	A	6: 104,726,237 (GRCm38)	V135I	probably benign	Het
Eif2s3y	A	T	Y: 1,020,030 (GRCm38)	M353L	probably benign	Het
Ercc8	C	A	13: 108,160,714 (GRCm38)	P53T	probably damaging	Het
Gan	A	G	8: 117,183,526 (GRCm38)	K65E	probably damaging	Het
Gm1110	T	C	9: 26,881,043 (GRCm38)	E597G	probably benign	Het
Gsdmc4	T	A	15: 63,902,060 (GRCm38)	H81L	probably benign	Het
Hs2st1	T	A	3: 144,465,138 (GRCm38)	N91I	probably damaging	Het
Olfr391-ps	A	G	11: 73,799,107 (GRCm38)	S217P	possibly damaging	Het
Olfr57	A	T	10: 79,035,053 (GRCm38)	I86F	probably damaging	Het
Pgr	T	C	9: 8,901,818 (GRCm38)	S451P	possibly damaging	Het
Pwp2	A	G	10: 78,182,698 (GRCm38)	L84S	possibly damaging	Het
Rab1a	T	A	11: 20,223,068 (GRCm38)		probably null	Het
Secisbp2	T	C	13: 51,670,879 (GRCm38)	S388P	probably benign	Het
Sh3rf1	C	T	8: 61,226,287 (GRCm38)	P121L	probably benign	Het
Sybu	T	C	15: 44,746,356 (GRCm38)	K172R	probably damaging	Het
Topbp1	C	T	9: 103,342,140 (GRCm38)	A1197V	probably benign	Het
Ttf1	T	A	2: 29,065,383 (GRCm38)	V253D	possibly damaging	Het
Ugt2a2	A	T	5: 87,474,629 (GRCm38)	V160E	probably damaging	Het
Vmn1r81	G	T	7: 12,260,037 (GRCm38)	Q215K	probably damaging	Het
Zfp653	A	G	9: 22,065,730 (GRCm38)	L147P	probably damaging	Het

Other mutations in Gm15448

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Gm15448	APN	7	3,823,089 (GRCm38)	missense	probably damaging	1.00
IGL01675:Gm15448	APN	7	3,822,608 (GRCm38)	splice site	probably benign
IGL02040:Gm15448	APN	7	3,821,517 (GRCm38)	splice site	probably benign
IGL02547:Gm15448	APN	7	3,821,661 (GRCm38)	missense	probably damaging	0.98
IGL02749:Gm15448	APN	7	3,822,625 (GRCm38)	missense	probably damaging	1.00
IGL02822:Gm15448	APN	7	3,816,918 (GRCm38)	missense	possibly damaging	0.50
IGL02883:Gm15448	APN	7	3,822,180 (GRCm38)	missense	possibly damaging	0.95
IGL03140:Gm15448	APN	7	3,823,248 (GRCm38)	missense	probably benign	0.00
IGL03185:Gm15448	APN	7	3,823,230 (GRCm38)	missense	probably damaging	1.00
IGL03212:Gm15448	APN	7	3,823,133 (GRCm38)	missense	probably benign	0.00
R0347:Gm15448	UTSW	7	3,822,874 (GRCm38)	missense	probably damaging	1.00
R0652:Gm15448	UTSW	7	3,822,763 (GRCm38)	missense	probably benign	0.02
R0668:Gm15448	UTSW	7	3,822,700 (GRCm38)	missense	probably damaging	0.99
R0724:Gm15448	UTSW	7	3,816,872 (GRCm38)	missense	possibly damaging	0.83
R0735:Gm15448	UTSW	7	3,821,782 (GRCm38)	missense	possibly damaging	0.79
R1074:Gm15448	UTSW	7	3,823,070 (GRCm38)	missense	probably damaging	1.00
R1339:Gm15448	UTSW	7	3,822,156 (GRCm38)	missense	probably damaging	1.00
R1541:Gm15448	UTSW	7	3,816,989 (GRCm38)	missense	probably damaging	1.00
R1570:Gm15448	UTSW	7	3,823,061 (GRCm38)	missense	probably benign	0.45
R1880:Gm15448	UTSW	7	3,824,951 (GRCm38)	critical splice donor site	probably null
R1892:Gm15448	UTSW	7	3,824,574 (GRCm38)	missense	probably benign	0.15
R1909:Gm15448	UTSW	7	3,822,919 (GRCm38)	missense	probably benign	0.31
R2881:Gm15448	UTSW	7	3,825,641 (GRCm38)	start codon destroyed	probably null	0.98
R2983:Gm15448	UTSW	7	3,821,575 (GRCm38)	missense	probably damaging	1.00
R4213:Gm15448	UTSW	7	3,821,554 (GRCm38)	missense	probably damaging	1.00
R4319:Gm15448	UTSW	7	3,822,755 (GRCm38)	missense	possibly damaging	0.46
R4320:Gm15448	UTSW	7	3,822,755 (GRCm38)	missense	possibly damaging	0.46
R4321:Gm15448	UTSW	7	3,822,755 (GRCm38)	missense	possibly damaging	0.46
R4322:Gm15448	UTSW	7	3,822,755 (GRCm38)	missense	possibly damaging	0.46
R4323:Gm15448	UTSW	7	3,822,755 (GRCm38)	missense	possibly damaging	0.46
R4536:Gm15448	UTSW	7	3,822,252 (GRCm38)	missense	probably benign	0.00
R4597:Gm15448	UTSW	7	3,822,155 (GRCm38)	missense	possibly damaging	0.81
R4713:Gm15448	UTSW	7	3,822,681 (GRCm38)	nonsense	probably null
R4725:Gm15448	UTSW	7	3,821,548 (GRCm38)	missense	probably benign
R4934:Gm15448	UTSW	7	3,822,677 (GRCm38)	missense	probably damaging	1.00
R4971:Gm15448	UTSW	7	3,822,806 (GRCm38)	missense	probably benign	0.00
R5138:Gm15448	UTSW	7	3,824,557 (GRCm38)	nonsense	probably null
R5805:Gm15448	UTSW	7	3,822,623 (GRCm38)	missense	probably benign	0.15
R5824:Gm15448	UTSW	7	3,824,754 (GRCm38)	missense	probably damaging	1.00
R5841:Gm15448	UTSW	7	3,822,899 (GRCm38)	nonsense	probably null
R6027:Gm15448	UTSW	7	3,824,639 (GRCm38)	missense	possibly damaging	0.94
R6214:Gm15448	UTSW	7	3,821,718 (GRCm38)	missense	probably damaging	0.99
R6329:Gm15448	UTSW	7	3,822,851 (GRCm38)	missense	probably damaging	1.00
R6429:Gm15448	UTSW	7	3,822,346 (GRCm38)	missense	possibly damaging	0.63
R6650:Gm15448	UTSW	7	3,816,899 (GRCm38)	missense	possibly damaging	0.83
R6681:Gm15448	UTSW	7	3,822,252 (GRCm38)	missense	probably benign	0.00
R6961:Gm15448	UTSW	7	3,825,125 (GRCm38)	missense	probably damaging	1.00
R6989:Gm15448	UTSW	7	3,822,164 (GRCm38)	missense	possibly damaging	0.95
R7025:Gm15448	UTSW	7	3,821,262 (GRCm38)	nonsense	probably null
R7071:Gm15448	UTSW	7	3,821,668 (GRCm38)	missense	unknown
R7194:Gm15448	UTSW	7	3,824,793 (GRCm38)	missense
R7215:Gm15448	UTSW	7	3,822,311 (GRCm38)	missense	unknown
R7580:Gm15448	UTSW	7	3,824,612 (GRCm38)	missense	unknown
R7776:Gm15448	UTSW	7	3,823,247 (GRCm38)	missense	unknown
R7863:Gm15448	UTSW	7	3,824,802 (GRCm38)	critical splice acceptor site	probably null
R7909:Gm15448	UTSW	7	3,821,709 (GRCm38)	missense	unknown
R8131:Gm15448	UTSW	7	3,822,162 (GRCm38)	nonsense	probably null
R8178:Gm15448	UTSW	7	3,821,261 (GRCm38)	missense	unknown
R8188:Gm15448	UTSW	7	3,823,127 (GRCm38)	missense	unknown
R8220:Gm15448	UTSW	7	3,822,904 (GRCm38)	missense	unknown
R8226:Gm15448	UTSW	7	3,825,110 (GRCm38)	missense
R8441:Gm15448	UTSW	7	3,823,302 (GRCm38)	nonsense	probably null
R8739:Gm15448	UTSW	7	3,825,189 (GRCm38)	missense
R8785:Gm15448	UTSW	7	3,816,929 (GRCm38)	missense	unknown
R8912:Gm15448	UTSW	7	3,822,819 (GRCm38)	missense	unknown
R8941:Gm15448	UTSW	7	3,822,381 (GRCm38)	missense	probably damaging	1.00
R8990:Gm15448	UTSW	7	3,821,274 (GRCm38)	missense	unknown
R9049:Gm15448	UTSW	7	3,816,891 (GRCm38)	missense	unknown
R9090:Gm15448	UTSW	7	3,816,998 (GRCm38)	missense	unknown
R9134:Gm15448	UTSW	7	3,822,183 (GRCm38)	missense
R9136:Gm15448	UTSW	7	3,823,286 (GRCm38)	missense
R9244:Gm15448	UTSW	7	3,822,227 (GRCm38)	missense	unknown
R9271:Gm15448	UTSW	7	3,816,998 (GRCm38)	missense	unknown
R9328:Gm15448	UTSW	7	3,824,581 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGAACACAGGCTCTCCATTTTGTC -3'
(R):5'- ACTCAGACTGTCAGCACTGC -3'

Sequencing Primer
(F):5'- GTCCTTCTCTACCTGCAACTCAG -3'
(R):5'- ACTGCCCAGCACTGTGGTG -3'

Posted On

2015-02-05