Mutagenetix > Incidental Mutation

Incidental Mutation 'R1394:Gm44511'

162743

Institutional Source

Beutler Lab

Gene Symbol

Gm44511

Ensembl Gene

ENSMUSG00000107872

Gene Name

predicted gene 44511

Synonyms

MMRRC Submission

039456-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.248) question?

Stock #

R1394 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

128757248-128803278 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 128797293 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Leucine at position 32 (S32L)

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: S65L

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

SMART Domains

Protein: ENSMUSP00000032472
Gene: ENSMUSG00000079298
AA Change: S65L

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: S65L

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

SMART Domains

Protein: ENSMUSP00000134637
Gene: ENSMUSG00000079298
AA Change: S65L

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: S32L

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000134022
Gene: ENSMUSG00000079298
AA Change: S32L

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: S65L

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

SMART Domains

Protein: ENSMUSP00000145481
Gene: ENSMUSG00000107872
AA Change: S65L

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: S65L

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

SMART Domains

Protein: ENSMUSP00000145327
Gene: ENSMUSG00000107872
AA Change: S65L

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: S65L

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

SMART Domains

Protein: ENSMUSP00000145287
Gene: ENSMUSG00000107872
AA Change: S65L

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: S56L

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

SMART Domains

Protein: ENSMUSP00000144777
Gene: ENSMUSG00000107872
AA Change: S56L

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: S65L

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

SMART Domains

Protein: ENSMUSP00000144964
Gene: ENSMUSG00000079298
AA Change: S65L

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: 98.9%
3x: 98.0%
10x: 95.3%
20x: 89.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2900026A02Rik	A	G	5: 113,249,362 (GRCm39)	Y122H	probably damaging	Het
Ankrd27	T	C	7: 35,315,294 (GRCm39)	F481S	possibly damaging	Het
Casd1	T	G	6: 4,624,117 (GRCm39)	C303W	probably damaging	Het
Cep128	C	T	12: 91,233,754 (GRCm39)	R438Q	probably benign	Het
Cep192	A	G	18: 67,991,992 (GRCm39)	T1957A	probably damaging	Het
Cep290	T	C	10: 100,373,391 (GRCm39)	S1224P	possibly damaging	Het
Col5a2	A	G	1: 45,442,579 (GRCm39)		probably null	Het
Cwc22	G	A	2: 77,759,823 (GRCm39)	R75C	possibly damaging	Het
Cyp4a30b	A	T	4: 115,328,089 (GRCm39)		probably null	Het
Dnah11	T	C	12: 117,936,099 (GRCm39)	D3298G	possibly damaging	Het
Drc3	T	C	11: 60,284,545 (GRCm39)	I450T	possibly damaging	Het
Dst	T	C	1: 34,204,236 (GRCm39)		probably null	Het
Dync1h1	G	A	12: 110,602,943 (GRCm39)	E2195K	probably benign	Het
Emilin2	G	T	17: 71,560,066 (GRCm39)	D970E	possibly damaging	Het
Fcgbp	A	G	7: 27,792,804 (GRCm39)	H936R	probably damaging	Het
Fkbp15	T	A	4: 62,246,109 (GRCm39)	M440L	probably benign	Het
Fryl	T	C	5: 73,230,255 (GRCm39)	H1634R	probably damaging	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Ift81	G	T	5: 122,706,986 (GRCm39)	D485E	probably benign	Het
Ipp	T	A	4: 116,395,109 (GRCm39)	L548*	probably null	Het
Itm2a	C	T	X: 106,441,807 (GRCm39)	V200I	possibly damaging	Het
Kank1	A	G	19: 25,405,528 (GRCm39)	N1182S	probably damaging	Het
Mkks	C	T	2: 136,722,882 (GRCm39)	G92S	probably damaging	Het
Mybbp1a	C	T	11: 72,334,474 (GRCm39)	P243L	probably damaging	Het
Myo1f	A	G	17: 33,802,714 (GRCm39)	D386G	probably damaging	Het
Obsl1	T	C	1: 75,469,309 (GRCm39)	S109G	probably damaging	Het
Or6z6	T	A	7: 6,491,361 (GRCm39)	T171S	probably damaging	Het
Or9s13	T	A	1: 92,548,267 (GRCm39)	I213N	probably benign	Het
Pcdh12	A	G	18: 38,414,242 (GRCm39)		probably null	Het
Phlpp1	T	C	1: 106,278,348 (GRCm39)	V920A	possibly damaging	Het
Phlpp2	T	A	8: 110,603,662 (GRCm39)	C109*	probably null	Het
Prickle2	T	A	6: 92,353,363 (GRCm39)	H701L	possibly damaging	Het
Psen1	G	A	12: 83,771,346 (GRCm39)	G209R	probably damaging	Het
Psg19	T	C	7: 18,530,983 (GRCm39)	N57S	probably damaging	Het
Rdh12	A	G	12: 79,255,839 (GRCm39)	T9A	probably benign	Het
Rgma	G	T	7: 73,067,542 (GRCm39)	A360S	probably benign	Het
Scyl2	T	A	10: 89,476,827 (GRCm39)	K766M	possibly damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
Spata31e5	T	C	1: 28,815,890 (GRCm39)	E714G	possibly damaging	Het
Spata46	A	G	1: 170,139,573 (GRCm39)	T191A	probably benign	Het
Spin1	T	C	13: 51,298,517 (GRCm39)	Y179H	probably damaging	Het
Tecpr1	T	C	5: 144,143,357 (GRCm39)	T673A	possibly damaging	Het
Tenm3	T	A	8: 48,729,435 (GRCm39)	M1508L	probably benign	Het
Vasn	C	T	16: 4,467,576 (GRCm39)	R508*	probably null	Het
Vmn2r15	T	A	5: 109,442,014 (GRCm39)	I140L	probably benign	Het
Wdr44	T	G	X: 23,662,298 (GRCm39)	C645G	probably damaging	Het
Zfand1	G	T	3: 10,411,269 (GRCm39)	T62K	probably benign	Het
Zfy1	C	T	Y: 725,957 (GRCm39)	V603I	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
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
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'- TTCAGTGAAGTGTCCTGCACCATC -3'
(R):5'- TGTAGCCTGACAGCCCTGTGAATC -3'

Sequencing Primer
(F):5'- CAGGTCACATGACTTTTGACAAG -3'
(R):5'- GCCCTGTGAATCAAAATGATCCTG -3'

Posted On

2014-03-17