Mutagenetix > Incidental Mutation

Incidental Mutation 'R5627:Gm5150'

441871

Institutional Source

Beutler Lab

Gene Symbol

Gm5150

Ensembl Gene

ENSMUSG00000078780

Gene Name

predicted gene 5150

Synonyms

MMRRC Submission

043166-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.059) question?

Stock #

R5627 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

16001035-16060535 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 16017564 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 236 (Y236H)

Ref Sequence

ENSEMBL: ENSMUSP00000141397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108347] [ENSMUST00000194367]

AlphaFold

Q1AN92

Predicted Effect

probably damaging
Transcript: ENSMUST00000108347
AA Change: Y236H

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

SMART Domains

Protein: ENSMUSP00000103984
Gene: ENSMUSG00000078780
AA Change: Y236H

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	143	8.78e-9	SMART
IG	156	262	7.52e-8	SMART
transmembrane domain	272	294	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000194367
AA Change: Y236H

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

SMART Domains

Protein: ENSMUSP00000141397
Gene: ENSMUSG00000078780
AA Change: Y236H

Domain	Start	End	E-Value	Type
signal peptide	1	28	N/A	INTRINSIC
IG	37	143	8.78e-9	SMART
IG	156	262	7.52e-8	SMART
transmembrane domain	272	294	N/A	INTRINSIC

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.5%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb8	C	T	5: 24,605,137 (GRCm39)	R108C	possibly damaging	Het
Abl1	T	C	2: 31,690,595 (GRCm39)	W705R	probably benign	Het
Alpk1	A	T	3: 127,474,296 (GRCm39)	V569D	probably damaging	Het
Ano3	T	C	2: 110,587,298 (GRCm39)	N425S	possibly damaging	Het
Atad2b	A	G	12: 4,967,911 (GRCm39)	D68G	probably benign	Het
Cacna1e	A	G	1: 154,511,604 (GRCm39)	I173T	probably damaging	Het
Cenpe	G	T	3: 134,941,234 (GRCm39)	L716F	possibly damaging	Het
Cep85	A	T	4: 133,861,408 (GRCm39)	L622Q	probably damaging	Het
Cep97	A	G	16: 55,745,330 (GRCm39)		probably null	Het
Ces1f	A	T	8: 94,006,327 (GRCm39)	M1K	probably null	Het
Chil5	A	G	3: 105,926,951 (GRCm39)	L228P	probably damaging	Het
Col22a1	T	C	15: 71,853,767 (GRCm39)	E265G	probably damaging	Het
Col3a1	T	C	1: 45,370,720 (GRCm39)		probably benign	Het
Cyp3a59	T	A	5: 146,049,664 (GRCm39)	D497E	probably benign	Het
Egfem1	G	T	3: 29,722,548 (GRCm39)	E175*	probably null	Het
Eif4g2	A	G	7: 110,673,446 (GRCm39)	Y778H	probably benign	Het
Fam98b	T	C	2: 117,098,414 (GRCm39)	C295R	probably damaging	Het
Gm3149	A	T	14: 15,702,790 (GRCm39)	I246L	probably benign	Het
Gm5134	A	G	10: 75,821,942 (GRCm39)	T259A	possibly damaging	Het
Golga2	C	A	2: 32,196,059 (GRCm39)	Y864*	probably null	Het
Inpp4a	A	G	1: 37,406,854 (GRCm39)	D199G	probably damaging	Het
Inpp4b	T	C	8: 82,470,445 (GRCm39)		probably benign	Het
Kremen1	T	C	11: 5,149,709 (GRCm39)	T321A	probably benign	Het
Map3k3	A	G	11: 106,039,428 (GRCm39)	S250G	probably benign	Het
Mtmr10	A	T	7: 63,986,500 (GRCm39)	K526M	probably damaging	Het
Nbea	C	T	3: 55,899,766 (GRCm39)	C1461Y	probably damaging	Het
Nckap5l	A	T	15: 99,325,587 (GRCm39)	N305K	possibly damaging	Het
Nup210l	A	T	3: 90,051,557 (GRCm39)	Y567F	probably damaging	Het
Or11g26	A	G	14: 50,753,257 (GRCm39)	M199V	probably benign	Het
Or14c39	G	T	7: 86,344,347 (GRCm39)	V228F	possibly damaging	Het
Or4a70	A	T	2: 89,324,388 (GRCm39)	N89K	probably benign	Het
Or56b2	G	A	7: 104,337,377 (GRCm39)	V52M	probably benign	Het
Or5b96	T	A	19: 12,867,663 (GRCm39)	I93F	probably damaging	Het
Or5g25	T	A	2: 85,477,991 (GRCm39)	I225F	probably damaging	Het
Rcc1	T	C	4: 132,065,454 (GRCm39)	R57G	probably damaging	Het
Rfx7	C	T	9: 72,440,066 (GRCm39)		probably benign	Het
Saraf	T	A	8: 34,621,799 (GRCm39)	M1K	probably null	Het
Serpinb9d	C	T	13: 33,386,676 (GRCm39)	T248I	probably damaging	Het
Slc38a6	A	G	12: 73,390,457 (GRCm39)	I254M	possibly damaging	Het
Slc6a5	A	G	7: 49,561,522 (GRCm39)	D18G	possibly damaging	Het
Supt20	A	G	3: 54,620,611 (GRCm39)	D389G	possibly damaging	Het
Tecpr2	T	A	12: 110,907,916 (GRCm39)	I1001K	probably damaging	Het
Vcan	CAAAA	CAA	13: 89,839,254 (GRCm39)		probably null	Het
Wdr36	T	A	18: 32,994,691 (GRCm39)	D717E	possibly damaging	Het
Zfp318	T	C	17: 46,724,062 (GRCm39)	S2022P	probably damaging	Het

Other mutations in Gm5150

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02188:Gm5150	APN	3	16,017,826 (GRCm39)	missense	possibly damaging	0.95
IGL02485:Gm5150	APN	3	16,044,916 (GRCm39)	missense	probably damaging	1.00
IGL02507:Gm5150	APN	3	16,017,485 (GRCm39)	missense	probably damaging	0.97
R1760:Gm5150	UTSW	3	16,060,468 (GRCm39)	missense	probably benign	0.00
R2081:Gm5150	UTSW	3	16,045,109 (GRCm39)	missense	probably benign	0.29
R3080:Gm5150	UTSW	3	16,045,085 (GRCm39)	missense	possibly damaging	0.93
R3149:Gm5150	UTSW	3	16,060,479 (GRCm39)	missense	probably damaging	0.99
R5329:Gm5150	UTSW	3	16,017,588 (GRCm39)	missense	probably benign	0.35
R6052:Gm5150	UTSW	3	16,044,917 (GRCm39)	missense	probably damaging	1.00
R6455:Gm5150	UTSW	3	16,044,815 (GRCm39)	missense	probably damaging	1.00
R6963:Gm5150	UTSW	3	16,060,555 (GRCm39)	start gained	probably benign
R7688:Gm5150	UTSW	3	16,017,747 (GRCm39)	missense	probably benign	0.07
R7872:Gm5150	UTSW	3	16,060,485 (GRCm39)	start codon destroyed	probably null	0.37
R8368:Gm5150	UTSW	3	16,044,902 (GRCm39)	missense	probably damaging	1.00
R9165:Gm5150	UTSW	3	16,045,060 (GRCm39)	missense	probably damaging	1.00
R9629:Gm5150	UTSW	3	16,044,829 (GRCm39)	missense	probably benign	0.16

Predicted Primers

PCR Primer
(F):5'- ATATTAGGGTCCCTTCTACATGGG -3'
(R):5'- TCTGAACTGCACAGTGACATCC -3'

Sequencing Primer
(F):5'- CCCTTCTACATGGGTGTATTAATTG -3'
(R):5'- TGCACAGTGACATCCCTCATC -3'

Posted On

2016-11-08