Mutagenetix > Incidental Mutation

Incidental Mutation 'R2190:Gm44511'

238029

Institutional Source

Beutler Lab

Gene Symbol

Gm44511

Ensembl Gene

ENSMUSG00000107872

Gene Name

predicted gene 44511

Synonyms

MMRRC Submission

040192-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.284) question?

Stock #

R2190 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128757248-128803278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 128803163 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 16 (I16T)

Ref Sequence

ENSEMBL: ENSMUSP00000134022 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000032472] [ENSMUST00000172887] [ENSMUST00000174544] [ENSMUST00000204394] [ENSMUST00000204423] [ENSMUST00000204677] [ENSMUST00000204756] [ENSMUST00000205130]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000032472
AA Change: I16T

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

SMART Domains

Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: I16T

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	2.04e-25	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000172887
AA Change: I16T

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

SMART Domains

Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
AA Change: I16T

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
PDB:3M9Z\|A	89	138	1e-25	PDB
SCOP:d1e87a_	94	137	2e-10	SMART
Blast:CLECT	94	138	2e-25	BLAST

Predicted Effect

possibly damaging
Transcript: ENSMUST00000174544
AA Change: I16T

PolyPhen 2 Score 0.462 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298
AA Change: I16T

Domain	Start	End	E-Value	Type
low complexity region	23	40	N/A	INTRINSIC
PDB:3M9Z\|A	56	97	8e-21	PDB
Blast:CLECT	61	97	1e-20	BLAST
SCOP:d1e87a_	61	97	8e-9	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204394
AA Change: I16T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: I16T

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.5e-28	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204423
AA Change: I16T

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: I16T

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	94	211	8.7e-27	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000204677
AA Change: I16T

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

SMART Domains

Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
AA Change: I16T

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
PDB:3M9Z\|A	89	144	2e-30	PDB
SCOP:d1e87a_	94	143	2e-12	SMART
Blast:CLECT	94	144	3e-30	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000204756
AA Change: I7T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: I7T

Domain	Start	End	E-Value	Type
transmembrane domain	35	57	N/A	INTRINSIC
CLECT	85	185	1e-14	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000205130
AA Change: I16T

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

SMART Domains

Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: I16T

Domain	Start	End	E-Value	Type
transmembrane domain	44	66	N/A	INTRINSIC
CLECT	75	187	1.5e-18	SMART

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	A	T	8: 111,766,785 (GRCm39)	T56S	probably damaging	Het
Acbd6	A	T	1: 155,500,652 (GRCm39)	H204L	probably damaging	Het
Acnat2	T	A	4: 49,383,551 (GRCm39)	M1L	probably benign	Het
Adgrg5	A	T	8: 95,660,579 (GRCm39)	I73F	probably damaging	Het
Ankrd52	A	G	10: 128,219,487 (GRCm39)	T474A	probably benign	Het
Arid3a	A	G	10: 79,782,365 (GRCm39)	D252G	possibly damaging	Het
Aspg	G	T	12: 112,091,322 (GRCm39)	E501D	probably damaging	Het
Bicral	A	G	17: 47,136,049 (GRCm39)	I387T	probably damaging	Het
Bub1	T	C	2: 127,652,645 (GRCm39)	N574S	probably benign	Het
Casr	G	A	16: 36,315,778 (GRCm39)	T764M	probably damaging	Het
Ccdc60	A	G	5: 116,295,639 (GRCm39)	S259P	probably damaging	Het
Ccne2	A	T	4: 11,197,241 (GRCm39)	N181I	probably benign	Het
Chd4	A	G	6: 125,091,260 (GRCm39)	D89G	probably benign	Het
Col25a1	C	T	3: 130,378,364 (GRCm39)	P606S	probably damaging	Het
Dcc	A	G	18: 71,680,491 (GRCm39)	S582P	possibly damaging	Het
Dlg4	A	G	11: 69,933,430 (GRCm39)	D619G	probably damaging	Het
Elavl2	C	T	4: 91,152,331 (GRCm39)	V129I	probably benign	Het
Epha3	A	G	16: 63,366,552 (GRCm39)	I965T	probably benign	Het
Fbxw16	G	A	9: 109,265,739 (GRCm39)	S360L	probably damaging	Het
Fgf14	T	C	14: 124,221,330 (GRCm39)	Y158C	probably damaging	Het
Has2	C	A	15: 56,531,183 (GRCm39)	V511F	probably benign	Het
Heatr5b	G	A	17: 79,109,185 (GRCm39)	R1025C	probably damaging	Het
Hsd17b12	T	C	2: 93,864,408 (GRCm39)	Y233C	probably benign	Het
Il36rn	A	T	2: 24,170,831 (GRCm39)	I43F	probably damaging	Het
Inpp5b	T	A	4: 124,678,988 (GRCm39)	I465N	probably damaging	Het
Irak2	T	A	6: 113,663,904 (GRCm39)	N423K	probably damaging	Het
Itga2	C	A	13: 115,007,141 (GRCm39)	V396L	probably benign	Het
Itprid1	A	G	6: 55,874,685 (GRCm39)	T212A	possibly damaging	Het
Lipo2	A	T	19: 33,725,969 (GRCm39)	N94K	probably damaging	Het
Lrrc37a	T	C	11: 103,390,869 (GRCm39)	T1519A	possibly damaging	Het
Macf1	A	G	4: 123,353,005 (GRCm39)	V1558A	probably benign	Het
Mocos	C	A	18: 24,797,114 (GRCm39)	H91Q	probably benign	Het
Myh14	G	A	7: 44,310,487 (GRCm39)	T132I	probably damaging	Het
Nlrp2	A	T	7: 5,322,237 (GRCm39)	D803E	possibly damaging	Het
Ntsr2	T	A	12: 16,704,018 (GRCm39)	I173N	probably damaging	Het
Or14c43	A	G	7: 86,115,573 (GRCm39)	Y318C	possibly damaging	Het
Or5b105	T	G	19: 13,079,857 (GRCm39)	K270N	probably damaging	Het
Pitx3	T	C	19: 46,125,486 (GRCm39)	Y86C	probably damaging	Het
Pkp1	T	C	1: 135,807,709 (GRCm39)	S520G	probably benign	Het
Pygo1	C	T	9: 72,852,529 (GRCm39)	Q239*	probably null	Het
Rab13	A	G	3: 90,130,851 (GRCm39)	E68G	probably damaging	Het
Rfx7	A	G	9: 72,525,201 (GRCm39)	E797G	probably benign	Het
Slc5a1	T	C	5: 33,261,937 (GRCm39)		probably null	Het
Slco1c1	A	G	6: 141,508,893 (GRCm39)	T518A	probably benign	Het
Spint1	A	G	2: 119,068,661 (GRCm39)	I132V	probably benign	Het
Stard9	T	A	2: 120,544,601 (GRCm39)	I4514N	probably benign	Het
Tenm3	T	G	8: 48,848,579 (GRCm39)	S87R	probably damaging	Het
Thap4	G	T	1: 93,678,381 (GRCm39)	P135Q	probably damaging	Het
Tmed9	A	G	13: 55,741,156 (GRCm39)	E57G	probably benign	Het
Tnrc18	C	T	5: 142,761,644 (GRCm39)	V594I	unknown	Het
Trmt1	A	T	8: 85,416,470 (GRCm39)	K64*	probably null	Het
Usf2	A	G	7: 30,654,606 (GRCm39)	V198A	probably damaging	Het
Usp14	A	T	18: 10,007,835 (GRCm39)	C168S	probably damaging	Het
Vav3	C	A	3: 109,470,130 (GRCm39)	T525K	probably damaging	Het
Vmn1r52	A	G	6: 90,156,151 (GRCm39)	I152V	probably benign	Het
Vmn2r81	A	G	10: 79,104,085 (GRCm39)	D236G	possibly damaging	Het
Wdr19	G	A	5: 65,401,509 (GRCm39)	V975I	possibly damaging	Het

Other mutations in Gm44511

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03008:Gm44511	APN	6	128,761,059 (GRCm39)	splice site	probably benign
IGL03028:Gm44511	APN	6	128,757,358 (GRCm39)	missense	probably damaging	1.00
R1394:Gm44511	UTSW	6	128,797,293 (GRCm39)	missense	possibly damaging	0.66
R1395:Gm44511	UTSW	6	128,797,293 (GRCm39)	missense	possibly damaging	0.66
R1959:Gm44511	UTSW	6	128,797,234 (GRCm39)	missense	probably damaging	0.98
R6026:Gm44511	UTSW	6	128,797,240 (GRCm39)	missense	possibly damaging	0.89
R6633:Gm44511	UTSW	6	128,803,205 (GRCm39)	missense	probably damaging	1.00
R7769:Gm44511	UTSW	6	128,797,240 (GRCm39)	missense	probably benign	0.04
R8725:Gm44511	UTSW	6	128,797,997 (GRCm39)	missense	probably damaging	1.00
R8727:Gm44511	UTSW	6	128,797,997 (GRCm39)	missense	probably damaging	1.00
R9022:Gm44511	UTSW	6	128,797,271 (GRCm39)	missense	possibly damaging	0.79
R9285:Gm44511	UTSW	6	128,777,017 (GRCm39)	intron	probably benign
Z1177:Gm44511	UTSW	6	128,797,301 (GRCm39)	critical splice acceptor site	probably null

Predicted Primers

PCR Primer
(F):5'- AACTGTGGTTTTCTGCAGGC -3'
(R):5'- CACCAGGTCAATAGCTATGGAG -3'

Sequencing Primer
(F):5'- TTCTGCAGGCAGGATAGCTATAC -3'
(R):5'- GGTCAATAGCTATGGAGAAACCCTC -3'

Posted On

2014-10-02