Mutagenetix > Incidental Mutation

Incidental Mutation 'R6026:Gm44511'

480038

Institutional Source

Beutler Lab

Gene Symbol

Gm44511

Ensembl Gene

ENSMUSG00000107872

Gene Name

predicted gene 44511

Synonyms

MMRRC Submission

044198-MU

Accession Numbers

Essential gene?

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

Stock #

R6026 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

128757248-128803278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 128797240 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 83 (T83A)

Ref Sequence

ENSEMBL: ENSMUSP00000145287 (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: T83A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: T83A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172887
AA Change: T83A

PolyPhen 2 Score 0.716 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
AA Change: T83A

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: T50A

PolyPhen 2 Score 0.799 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298
AA Change: T50A

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: T83A

PolyPhen 2 Score 0.195 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: T83A

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: T83A

PolyPhen 2 Score 0.444 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: T83A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000204677
AA Change: T83A

PolyPhen 2 Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
AA Change: T83A

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: T74A

PolyPhen 2 Score 0.301 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: T74A

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000205130
AA Change: T83A

PolyPhen 2 Score 0.587 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: T83A

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

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.5%

Validation Efficiency

97% (73/75)

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810065E05Rik	A	G	11: 58,316,581 (GRCm39)	D187G	probably benign	Het
4933421I07Rik	A	T	7: 42,095,708 (GRCm39)	M180K	probably benign	Het
Aatk	T	C	11: 119,903,190 (GRCm39)	H345R	possibly damaging	Het
Abcc8	T	C	7: 45,816,424 (GRCm39)	T239A	probably benign	Het
Abcf3	A	G	16: 20,369,320 (GRCm39)	E234G	probably damaging	Het
Actrt2	T	C	4: 154,751,047 (GRCm39)	D363G	possibly damaging	Het
Adam1a	A	T	5: 121,657,425 (GRCm39)	C623S	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Ash1l	T	C	3: 88,892,326 (GRCm39)	Y1402H	probably damaging	Het
Barhl2	T	A	5: 106,603,474 (GRCm39)	K228N	probably benign	Het
Blvrb	A	G	7: 27,162,115 (GRCm39)	H153R	probably damaging	Het
Capn9	A	G	8: 125,332,601 (GRCm39)	D480G	probably damaging	Het
Cct3	T	C	3: 88,219,029 (GRCm39)	I182T	possibly damaging	Het
Clasp2	A	G	9: 113,740,646 (GRCm39)	N1208D	probably benign	Het
Col26a1	A	G	5: 136,876,354 (GRCm39)	C89R	probably damaging	Het
Cops4	T	A	5: 100,690,194 (GRCm39)		probably benign	Het
Cpox	T	A	16: 58,491,298 (GRCm39)	W170R	probably damaging	Het
Ddx27	A	G	2: 166,875,560 (GRCm39)	K656E	probably benign	Het
Eif4e	T	C	3: 138,256,661 (GRCm39)	I66T	probably damaging	Het
Ercc3	T	C	18: 32,378,974 (GRCm39)		probably null	Het
Esp38	G	A	17: 40,266,032 (GRCm39)	C47Y	probably damaging	Het
Fancd2	T	C	6: 113,528,731 (GRCm39)	V380A	possibly damaging	Het
Fbxw7	T	A	3: 84,859,948 (GRCm39)		probably null	Het
Fryl	T	G	5: 73,257,340 (GRCm39)	R736S	probably benign	Het
Gad2	G	A	2: 22,513,748 (GRCm39)	V62M	probably benign	Het
Gigyf2	A	G	1: 87,368,454 (GRCm39)	T1045A	probably damaging	Het
Gm13090	T	A	4: 151,175,157 (GRCm39)	L78*	probably null	Het
Gm19410	G	A	8: 36,279,580 (GRCm39)	S1815N	probably benign	Het
Gm28051	A	T	12: 102,686,444 (GRCm39)	L72Q	unknown	Het
Grk2	C	T	19: 4,340,811 (GRCm39)	V246I	probably damaging	Het
Grm7	C	T	6: 111,478,500 (GRCm39)	Q62*	probably null	Het
Gsdmc3	T	A	15: 63,738,600 (GRCm39)	E154V	probably damaging	Het
Gstz1	A	C	12: 87,206,948 (GRCm39)	Q114P	probably damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hhip	A	T	8: 80,699,069 (GRCm39)	C666S	probably damaging	Het
Hif1a	A	C	12: 73,979,055 (GRCm39)	H193P	probably damaging	Het
Hyal2	A	G	9: 107,449,398 (GRCm39)	T385A	probably benign	Het
Ihh	T	C	1: 74,985,886 (GRCm39)	T200A	probably benign	Het
Iqgap3	T	A	3: 87,997,478 (GRCm39)	V218E	probably damaging	Het
Lct	A	G	1: 128,227,755 (GRCm39)	I1246T	probably benign	Het
Lmo7	T	C	14: 102,118,426 (GRCm39)	V217A	probably benign	Het
Lrp1	C	T	10: 127,409,272 (GRCm39)	D1616N	probably damaging	Het
Lrrfip2	A	T	9: 111,043,239 (GRCm39)	T165S	probably damaging	Het
Morc2b	A	G	17: 33,356,957 (GRCm39)	Y272H	possibly damaging	Het
Muc16	A	G	9: 18,571,154 (GRCm39)	M455T	unknown	Het
Ncapg2	A	T	12: 116,406,641 (GRCm39)	D939V	possibly damaging	Het
Ncbp3	T	C	11: 72,958,548 (GRCm39)	V236A	probably benign	Het
Obscn	T	A	11: 58,957,916 (GRCm39)	T3595S	probably damaging	Het
Odf2l	T	C	3: 144,854,797 (GRCm39)	S545P	possibly damaging	Het
Or3a1	T	A	11: 74,225,914 (GRCm39)	I48F	probably damaging	Het
Or8b36	ATTGCTGTTT	ATTGCTGTTTGCTGTTT	9: 37,937,836 (GRCm39)		probably null	Het
Pdzrn3	A	C	6: 101,339,105 (GRCm39)	C269G	probably benign	Het
Pear1	T	A	3: 87,664,220 (GRCm39)	N278Y	probably damaging	Het
Phb1	C	T	11: 95,562,245 (GRCm39)	R41*	probably null	Het
Pikfyve	T	C	1: 65,311,856 (GRCm39)	V2031A	probably damaging	Het
Plxna2	A	G	1: 194,482,122 (GRCm39)	I1465V	probably damaging	Het
Ppp6r2	A	G	15: 89,167,113 (GRCm39)	N776S	probably benign	Het
Prkce	A	T	17: 86,800,658 (GRCm39)	E358V	probably benign	Het
Prl5a1	A	T	13: 28,335,247 (GRCm39)	I219F	probably benign	Het
Prss3	T	C	6: 41,354,488 (GRCm39)		probably null	Het
Ptprc	A	T	1: 137,998,987 (GRCm39)	M858K	probably damaging	Het
Retreg3	T	C	11: 100,997,226 (GRCm39)	T85A	probably damaging	Het
Rfc2	T	A	5: 134,624,185 (GRCm39)	C265S	probably damaging	Het
Smarcd1	G	T	15: 99,603,619 (GRCm39)	V256L	probably damaging	Het
Stat5a	T	C	11: 100,771,142 (GRCm39)	F574L	probably damaging	Het
Tcirg1	T	C	19: 3,947,487 (GRCm39)	H624R	probably benign	Het
Tcstv1a	C	A	13: 120,355,987 (GRCm39)		probably benign	Het
Tenm2	C	T	11: 35,963,556 (GRCm39)		probably null	Het
Tomm40	A	G	7: 19,444,889 (GRCm39)	V164A	probably benign	Het
Txnl4a	T	C	18: 80,250,482 (GRCm39)	V26A	probably damaging	Het
Ugt2a3	A	T	5: 87,484,336 (GRCm39)	F229L	probably benign	Het
Utp20	T	C	10: 88,604,541 (GRCm39)	T1785A	probably benign	Het
Vmn1r22	T	A	6: 57,877,390 (GRCm39)	I196L	probably benign	Het
Zfp652	T	G	11: 95,640,788 (GRCm39)	C238G	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
R2190:Gm44511	UTSW	6	128,803,163 (GRCm39)	missense	possibly damaging	0.46
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'- TTGCAGTCTGAGGAAGCATG -3'
(R):5'- CTGGCCATACTGAAGCTTGTGG -3'

Sequencing Primer
(F):5'- CCAGGTAGCTAAGATGCTAGATCTC -3'
(R):5'- CCATACTGAAGCTTGTGGAGATG -3'

Posted On

2017-06-26