Mutagenetix > Incidental Mutation

Incidental Mutation 'R9244:Gm15448'

701152

Institutional Source

Beutler Lab

Gene Symbol

Gm15448

Ensembl Gene

ENSMUSG00000074419

Gene Name

predicted gene 15448

Synonyms

ENSMUSG00000074419

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.048) question?

Stock #

R9244 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3816781-3825687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 3822227 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 472 (D472G)

Ref Sequence

ENSEMBL: ENSMUSP00000121707 (fasta)

Gene Model

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

AlphaFold

F6PZL4

Predicted Effect

probably benign
Transcript: ENSMUST00000094911

SMART Domains

Protein: ENSMUSP00000092515
Gene: ENSMUSG00000074419

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

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: D472G

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 benign
Transcript: ENSMUST00000108620

SMART Domains

Protein: ENSMUSP00000104260
Gene: ENSMUSG00000074419

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: D472G

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: D472G

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

Predicted Effect

probably benign
Transcript: ENSMUST00000189095
AA Change: D472G

PolyPhen 2 Score 0.415 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: D472G

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: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330182L06Rik	A	G	5: 9,410,700	Y207C	probably damaging	Het
Abca13	A	G	11: 9,291,577	I1147V	probably benign	Het
Adcy10	A	G	1: 165,543,110	T653A	probably benign	Het
App	A	G	16: 84,962,741	I656T	probably damaging	Het
Arnt	T	A	3: 95,490,568	I574N	possibly damaging	Het
Cdc42	T	C	4: 137,329,080	T75A	probably benign	Het
Cdh23	C	A	10: 60,413,663	K822N	possibly damaging	Het
Chrnb3	T	A	8: 27,394,566	L444I	unknown	Het
Ctnnbl1	G	T	2: 157,836,663	K395N	possibly damaging	Het
Dmxl1	T	A	18: 49,893,249	I1808K	probably benign	Het
Dnajb8	C	A	6: 88,222,902	P140Q	probably damaging	Het
Dock5	G	A	14: 67,759,114	R1727W	probably damaging	Het
Dscam	G	A	16: 96,685,229	T1082I	possibly damaging	Het
Enpp3	T	C	10: 24,778,791	D663G	probably damaging	Het
Epha5	A	G	5: 84,117,582	V451A	probably benign	Het
Erap1	G	A	13: 74,673,784		probably null	Het
Esco2	A	G	14: 65,821,639	W530R	probably damaging	Het
Fam160a2	A	G	7: 105,389,663	V123A	possibly damaging	Het
Fhod3	T	C	18: 25,115,865	I1367T	probably damaging	Het
Gm42669	A	G	5: 107,508,504	T295A	possibly damaging	Het
Harbi1	A	G	2: 91,712,695	N167S	probably damaging	Het
Hfm1	A	C	5: 106,874,900	N945K	probably damaging	Het
Hook3	A	G	8: 26,071,056		probably null	Het
Htr1f	G	T	16: 64,926,494	T145K	probably benign	Het
Igf2bp2	A	C	16: 22,068,151	S453A	possibly damaging	Het
Ipo4	A	T	14: 55,634,342	W116R	probably damaging	Het
Jak1	T	C	4: 101,157,843	H917R	probably benign	Het
Klrb1b	A	T	6: 128,815,282	C189*	probably null	Het
Lrrn2	A	G	1: 132,937,320	Y41C	probably damaging	Het
Lrrn2	T	C	1: 132,937,499	S101P	probably damaging	Het
Mcmdc2	C	T	1: 9,915,610	T127I	probably damaging	Het
Ndufb5	C	A	3: 32,741,757	Q33K	probably null	Het
Nufip2	T	C	11: 77,692,649	V463A	probably damaging	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,595,266		probably benign	Het
Olfr1062	A	T	2: 86,423,079	V199E	probably damaging	Het
Olfr212	G	A	6: 116,515,821	V15I	probably benign	Het
Olfr457	T	A	6: 42,471,603	I192F	possibly damaging	Het
Olfr486	A	G	7: 108,172,645	I33T	probably benign	Het
Ppip5k1	A	C	2: 121,334,451	S972A	probably benign	Het
Prl8a2	A	T	13: 27,350,999	M86L	probably benign	Het
Prorsd1	T	C	11: 29,513,271	I164V	probably benign	Het
Ptgs1	A	G	2: 36,240,712	T208A	probably damaging	Het
Ptpn3	A	T	4: 57,254,915		probably null	Het
Reln	T	C	5: 21,915,153	R2834G	probably damaging	Het
Shc4	G	T	2: 125,655,669	Y373*	probably null	Het
Skor1	A	T	9: 63,142,242		probably null	Het
Slc9a4	T	C	1: 40,619,089	S591P	probably damaging	Het
Stat2	A	G	10: 128,282,765	E389G	possibly damaging	Het
Trav14n-3	C	A	14: 53,370,547	D111E	probably damaging	Het
Unc5c	A	G	3: 141,827,609	S873G	probably benign	Het
Vmn1r210	T	C	13: 22,827,919	I66V	probably benign	Het
Vmn2r117	T	A	17: 23,477,615	I273F	probably damaging	Het
Vmn2r95	T	A	17: 18,451,927	M714K	possibly damaging	Het
Wrb	A	G	16: 96,154,183	T147A	probably benign	Het
Zfp235	A	G	7: 24,140,494	T113A	probably benign	Het
Zranb1	T	G	7: 132,983,911	L696R	probably damaging	Het

Other mutations in Gm15448

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Gm15448	APN	7	3823089	missense	probably damaging	1.00
IGL01675:Gm15448	APN	7	3822608	splice site	probably benign
IGL02040:Gm15448	APN	7	3821517	splice site	probably benign
IGL02547:Gm15448	APN	7	3821661	missense	probably damaging	0.98
IGL02749:Gm15448	APN	7	3822625	missense	probably damaging	1.00
IGL02822:Gm15448	APN	7	3816918	missense	possibly damaging	0.50
IGL02883:Gm15448	APN	7	3822180	missense	possibly damaging	0.95
IGL03140:Gm15448	APN	7	3823248	missense	probably benign	0.00
IGL03185:Gm15448	APN	7	3823230	missense	probably damaging	1.00
IGL03212:Gm15448	APN	7	3823133	missense	probably benign	0.00
R0347:Gm15448	UTSW	7	3822874	missense	probably damaging	1.00
R0652:Gm15448	UTSW	7	3822763	missense	probably benign	0.02
R0668:Gm15448	UTSW	7	3822700	missense	probably damaging	0.99
R0724:Gm15448	UTSW	7	3816872	missense	possibly damaging	0.83
R0735:Gm15448	UTSW	7	3821782	missense	possibly damaging	0.79
R1074:Gm15448	UTSW	7	3823070	missense	probably damaging	1.00
R1339:Gm15448	UTSW	7	3822156	missense	probably damaging	1.00
R1541:Gm15448	UTSW	7	3816989	missense	probably damaging	1.00
R1570:Gm15448	UTSW	7	3823061	missense	probably benign	0.45
R1880:Gm15448	UTSW	7	3824951	critical splice donor site	probably null
R1892:Gm15448	UTSW	7	3824574	missense	probably benign	0.15
R1909:Gm15448	UTSW	7	3822919	missense	probably benign	0.31
R2881:Gm15448	UTSW	7	3825641	start codon destroyed	probably null	0.98
R2967:Gm15448	UTSW	7	3822687	missense	probably damaging	1.00
R2983:Gm15448	UTSW	7	3821575	missense	probably damaging	1.00
R4213:Gm15448	UTSW	7	3821554	missense	probably damaging	1.00
R4319:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4320:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4321:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4322:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4323:Gm15448	UTSW	7	3822755	missense	possibly damaging	0.46
R4536:Gm15448	UTSW	7	3822252	missense	probably benign	0.00
R4597:Gm15448	UTSW	7	3822155	missense	possibly damaging	0.81
R4713:Gm15448	UTSW	7	3822681	nonsense	probably null
R4725:Gm15448	UTSW	7	3821548	missense	probably benign
R4934:Gm15448	UTSW	7	3822677	missense	probably damaging	1.00
R4971:Gm15448	UTSW	7	3822806	missense	probably benign	0.00
R5138:Gm15448	UTSW	7	3824557	nonsense	probably null
R5805:Gm15448	UTSW	7	3822623	missense	probably benign	0.15
R5824:Gm15448	UTSW	7	3824754	missense	probably damaging	1.00
R5841:Gm15448	UTSW	7	3822899	nonsense	probably null
R6027:Gm15448	UTSW	7	3824639	missense	possibly damaging	0.94
R6214:Gm15448	UTSW	7	3821718	missense	probably damaging	0.99
R6329:Gm15448	UTSW	7	3822851	missense	probably damaging	1.00
R6429:Gm15448	UTSW	7	3822346	missense	possibly damaging	0.63
R6650:Gm15448	UTSW	7	3816899	missense	possibly damaging	0.83
R6681:Gm15448	UTSW	7	3822252	missense	probably benign	0.00
R6961:Gm15448	UTSW	7	3825125	missense	probably damaging	1.00
R6989:Gm15448	UTSW	7	3822164	missense	possibly damaging	0.95
R7025:Gm15448	UTSW	7	3821262	nonsense	probably null
R7071:Gm15448	UTSW	7	3821668	missense	unknown
R7194:Gm15448	UTSW	7	3824793	missense
R7215:Gm15448	UTSW	7	3822311	missense	unknown
R7580:Gm15448	UTSW	7	3824612	missense	unknown
R7776:Gm15448	UTSW	7	3823247	missense	unknown
R7863:Gm15448	UTSW	7	3824802	critical splice acceptor site	probably null
R7909:Gm15448	UTSW	7	3821709	missense	unknown
R8131:Gm15448	UTSW	7	3822162	nonsense	probably null
R8178:Gm15448	UTSW	7	3821261	missense	unknown
R8188:Gm15448	UTSW	7	3823127	missense	unknown
R8220:Gm15448	UTSW	7	3822904	missense	unknown
R8226:Gm15448	UTSW	7	3825110	missense
R8441:Gm15448	UTSW	7	3823302	nonsense	probably null
R8739:Gm15448	UTSW	7	3825189	missense
R8785:Gm15448	UTSW	7	3816929	missense	unknown
R8912:Gm15448	UTSW	7	3822819	missense	unknown
R8941:Gm15448	UTSW	7	3822381	missense	probably damaging	1.00
R8990:Gm15448	UTSW	7	3821274	missense	unknown
R9049:Gm15448	UTSW	7	3816891	missense	unknown
R9090:Gm15448	UTSW	7	3816998	missense	unknown
R9134:Gm15448	UTSW	7	3822183	missense
R9136:Gm15448	UTSW	7	3823286	missense
R9271:Gm15448	UTSW	7	3816998	missense	unknown
R9328:Gm15448	UTSW	7	3824581	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TCCTGACAGAGTCTGTTAAGC -3'
(R):5'- TCGAACACAGCCCTGATTGG -3'

Sequencing Primer
(F):5'- GTTAAGCTACTCACCTGGGATCAG -3'
(R):5'- AAACCTCAGTCTCTAGCTGTCAC -3'

Posted On

2022-03-25