Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02883:Gm15448'

362862

Institutional Source

Australian Phenomics Network (link to record)

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 #

IGL02883

Quality Score

Status

Chromosome

Chromosomal Location

3816781-3825687 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 3822180 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 488 (S488P)

Ref Sequence

ENSEMBL: ENSMUSP00000140974 (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

unknown
Transcript: ENSMUST00000108619
AA Change: S488P

SMART Domains

Protein: ENSMUSP00000104259
Gene: ENSMUSG00000074419
AA Change: S488P

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: S488P

SMART Domains

Protein: ENSMUSP00000121707
Gene: ENSMUSG00000074419
AA Change: S488P

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000189095
AA Change: S488P

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000140974
Gene: ENSMUSG00000074419
AA Change: S488P

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810055G02Rik	C	A	19: 3,716,972	S186R	possibly damaging	Het
Acap2	A	G	16: 31,096,345		probably benign	Het
Cacna1h	G	T	17: 25,380,532	R1726S	probably damaging	Het
Cdca2	T	C	14: 67,707,497	S133G	probably damaging	Het
Cep295nl	A	T	11: 118,333,909	S36R	probably benign	Het
Crispld1	A	G	1: 17,746,789	N190S	possibly damaging	Het
Crtam	A	G	9: 40,994,501	V44A	probably benign	Het
Crtc1	C	T	8: 70,406,125	G112S	probably benign	Het
Cyp17a1	T	C	19: 46,669,351	N254S	probably benign	Het
Dmrta1	T	C	4: 89,688,774	S156P	probably benign	Het
Eno2	A	C	6: 124,766,209	V188G	probably damaging	Het
Fam20a	A	T	11: 109,675,127	I427N	probably damaging	Het
Fat2	T	C	11: 55,256,618	K3933E	probably benign	Het
Igkv8-30	T	C	6: 70,117,617	M1V	probably null	Het
Ist1	G	A	8: 109,683,668		probably benign	Het
Kank4	T	C	4: 98,773,453	E765G	possibly damaging	Het
Kat14	T	C	2: 144,393,529	L92S	probably damaging	Het
Kcnu1	G	A	8: 25,849,827	V58I	probably benign	Het
Lrba	T	A	3: 86,445,413	I1956N	probably damaging	Het
Lrba	T	A	3: 86,354,206	V1489E	probably damaging	Het
Mdn1	G	A	4: 32,763,199	V5100I	probably benign	Het
Mkrn2os	C	A	6: 115,586,709	G122*	probably null	Het
Nme3	T	C	17: 24,896,906	Y78H	probably benign	Het
Pkd1l2	G	A	8: 117,065,745	T436I	probably benign	Het
Ppp2r5c	T	G	12: 110,522,563	V56G	possibly damaging	Het
Pramef25	T	C	4: 143,949,848	T229A	possibly damaging	Het
Prdm10	G	A	9: 31,327,348	V179M	probably damaging	Het
Rab11fip2	A	G	19: 59,906,998	V344A	probably damaging	Het
Selp	G	A	1: 164,130,102	A267T	probably benign	Het
Sf3a1	T	A	11: 4,179,192	W718R	probably damaging	Het
Taar9	T	C	10: 24,109,480	N19D	probably benign	Het
Tas2r113	T	G	6: 132,893,419	S137A	probably damaging	Het
Traf4	A	T	11: 78,161,621	I66N	possibly damaging	Het
Ucp3	A	T	7: 100,480,642	T164S	probably benign	Het
Uggt1	A	T	1: 36,177,615	N96K	probably benign	Het
Uqcc1	T	A	2: 155,911,829	Q42L	possibly damaging	Het
Vmn1r128	A	G	7: 21,349,515	K48R	probably benign	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
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
R9244:Gm15448	UTSW	7	3822227	missense	unknown
R9271:Gm15448	UTSW	7	3816998	missense	unknown
R9328:Gm15448	UTSW	7	3824581	missense	unknown

Posted On

2015-12-18