Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01449:Gm21985'

84543

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Gm21985

Ensembl Gene

ENSMUSG00000096764

Gene Name

predicted gene 21985

Synonyms

Accession Numbers

Essential gene?

Not available question?

Stock #

IGL01449

Quality Score

Status

Chromosome

Chromosomal Location

112096659-112236664 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 112169741 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 292 (F292L)

Ref Sequence

ENSEMBL: ENSMUSP00000051490 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000028549] [ENSMUST00000053666] [ENSMUST00000110987] [ENSMUST00000110991] [ENSMUST00000141047]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000028549
AA Change: F343L

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000028549
Gene: ENSMUSG00000027130
AA Change: F343L

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	114	171	8e-3	SMART
Pfam:AA_permease	190	384	4.1e-25	PFAM
Pfam:AA_permease	453	761	2.3e-43	PFAM
Pfam:SLC12	773	897	7.1e-20	PFAM
Pfam:SLC12	892	1150	3.9e-32	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000053666
AA Change: F292L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000051490
Gene: ENSMUSG00000027130
AA Change: F292L

Domain	Start	End	E-Value	Type
Pfam:AA_permease	139	333	2.3e-25	PFAM
Pfam:AA_permease_2	385	668	1.5e-19	PFAM
Pfam:AA_permease	391	710	4.5e-41	PFAM
low complexity region	828	842	N/A	INTRINSIC
Pfam:KCl_Cotrans_1	967	996	2.2e-23	PFAM
low complexity region	1079	1091	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110987
AA Change: F328L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106615
Gene: ENSMUSG00000027130
AA Change: F328L

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	4e-3	SMART
Pfam:AA_permease	175	369	3.9e-25	PFAM
Pfam:AA_permease_2	421	704	3.2e-19	PFAM
Pfam:AA_permease	426	746	5.8e-41	PFAM
low complexity region	864	878	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000110991
AA Change: F343L

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000106619
Gene: ENSMUSG00000027130
AA Change: F343L

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	114	171	7e-3	SMART
Pfam:AA_permease	190	384	4.2e-25	PFAM
Pfam:AA_permease_2	436	719	2.9e-19	PFAM
Pfam:AA_permease	442	761	8.2e-41	PFAM
low complexity region	879	893	N/A	INTRINSIC
Pfam:KCl_Cotrans_1	1018	1047	2.7e-23	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000141047
AA Change: F328L

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000124314
Gene: ENSMUSG00000096764
AA Change: F328L

Domain	Start	End	E-Value	Type
low complexity region	28	53	N/A	INTRINSIC
SCOP:d1qqea_	99	156	8e-3	SMART
Pfam:AA_permease	175	369	6.6e-25	PFAM
Pfam:AA_permease	438	746	3.6e-43	PFAM
Pfam:SLC12	758	884	6.8e-20	PFAM
Pfam:SLC12	877	1033	5.9e-20	PFAM

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030K09Rik	A	T	8: 73,198,693 (GRCm39)	L33F	probably benign	Het
Actr8	T	C	14: 29,712,927 (GRCm39)		probably null	Het
Aldh16a1	C	A	7: 44,791,391 (GRCm39)	A105S	probably damaging	Het
Angpt2	T	C	8: 18,760,641 (GRCm39)	T154A	probably benign	Het
BC051665	A	G	13: 60,930,518 (GRCm39)	V278A	probably damaging	Het
Cap1	T	C	4: 122,753,980 (GRCm39)	T458A	probably damaging	Het
Clcn3	A	T	8: 61,387,632 (GRCm39)	S179T	probably damaging	Het
Cyp2a22	T	C	7: 26,632,978 (GRCm39)	D408G	probably benign	Het
Fam217b	T	A	2: 178,062,943 (GRCm39)	S302R	probably damaging	Het
Fcho2	A	T	13: 98,926,315 (GRCm39)	D89E	probably benign	Het
Fnip1	C	T	11: 54,390,334 (GRCm39)	R434C	probably damaging	Het
Gga3	G	A	11: 115,479,928 (GRCm39)	T261M	probably damaging	Het
Gm43638	A	T	5: 87,634,074 (GRCm39)	S178T	possibly damaging	Het
Igkv10-95	G	A	6: 68,657,748 (GRCm39)	G68E	probably damaging	Het
Katnip	T	A	7: 125,469,857 (GRCm39)	V1442D	probably damaging	Het
Lpcat2	G	A	8: 93,597,775 (GRCm39)	R180Q	possibly damaging	Het
Muc6	C	T	7: 141,218,527 (GRCm39)	A1984T	possibly damaging	Het
Npy4r	T	A	14: 33,868,322 (GRCm39)	Y322F	probably damaging	Het
Nwd2	T	A	5: 63,962,937 (GRCm39)	H840Q	probably damaging	Het
Or7g26	G	A	9: 19,230,529 (GRCm39)	G233D	probably damaging	Het
Osbpl2	G	T	2: 179,786,987 (GRCm39)		probably benign	Het
Pclo	T	A	5: 14,728,530 (GRCm39)		probably benign	Het
Pold4	T	C	19: 4,282,921 (GRCm39)		probably benign	Het
Ppp1r16a	A	G	15: 76,578,494 (GRCm39)		probably benign	Het
Pprc1	C	T	19: 46,053,671 (GRCm39)		probably benign	Het
Prkcg	A	G	7: 3,368,135 (GRCm39)	D343G	probably benign	Het
Scaf11	A	C	15: 96,317,007 (GRCm39)	S852R	probably benign	Het
Slc31a2	C	T	4: 62,210,933 (GRCm39)	T22I	probably damaging	Het
Sox30	T	A	11: 45,872,169 (GRCm39)	D341E	probably damaging	Het
Tle4	A	G	19: 14,442,704 (GRCm39)	S339P	probably benign	Het
Tsg101	A	T	7: 46,558,673 (GRCm39)	Y78N	probably damaging	Het
Ttc1	T	A	11: 43,629,630 (GRCm39)	S179C	probably damaging	Het
Txnrd3	T	A	6: 89,631,129 (GRCm39)	S142T	probably benign	Het
Ubr4	C	A	4: 139,140,047 (GRCm39)	A1210E	probably damaging	Het
Uroc1	C	A	6: 90,315,635 (GRCm39)	P172Q	probably damaging	Het
Usp12	T	C	5: 146,691,250 (GRCm39)	D168G	probably benign	Het
Vmn1r32	T	A	6: 66,529,916 (GRCm39)	M287L	probably benign	Het
Vwa8	C	T	14: 79,420,428 (GRCm39)	Q1710*	probably null	Het
Wdfy4	T	A	14: 32,825,994 (GRCm39)	Q1219L	probably damaging	Het
Zbtb17	A	G	4: 141,190,616 (GRCm39)	T145A	probably benign	Het
Zfp697	T	C	3: 98,334,846 (GRCm39)	C204R	probably damaging	Het

Other mutations in Gm21985

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00092:Gm21985	APN	2	112,181,679 (GRCm39)	missense	probably damaging	1.00
IGL00489:Gm21985	APN	2	112,168,342 (GRCm39)	splice site	probably benign
IGL02065:Gm21985	APN	2	112,187,929 (GRCm39)	missense	possibly damaging	0.89
IGL02937:Gm21985	APN	2	112,172,207 (GRCm39)	missense	probably benign	0.20
IGL03179:Gm21985	APN	2	112,188,900 (GRCm39)	missense	possibly damaging	0.95
IGL03216:Gm21985	APN	2	112,097,281 (GRCm39)	missense	probably damaging	0.97
IGL03220:Gm21985	APN	2	112,187,829 (GRCm39)	missense	possibly damaging	0.89

Posted On

2013-11-11