Mutagenetix > Incidental Mutation

Incidental Mutation 'R3605:Gm5814'

269070

Institutional Source

Beutler Lab

Gene Symbol

Gm5814

Ensembl Gene

ENSMUSG00000096361

Gene Name

predicted pseudogene 5814

Synonyms

MMRRC Submission

040670-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.134) question?

Stock #

R3605 (G1)

Quality Score

171

Status

Validated

Chromosome

Chromosomal Location

47721288-47721662 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 47721430 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Leucine at position 48 (R48L)

Ref Sequence

ENSEMBL: ENSMUSP00000137136 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061885] [ENSMUST00000073143] [ENSMUST00000177586]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000061885

SMART Domains

Protein: ENSMUSP00000050873
Gene: ENSMUSG00000047150

Domain	Start	End	E-Value	Type
low complexity region	74	86	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000073143

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125507

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160678

Predicted Effect

probably damaging
Transcript: ENSMUST00000177586
AA Change: R48L

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

SMART Domains

Protein: ENSMUSP00000137136
Gene: ENSMUSG00000096361
AA Change: R48L

Domain	Start	End	E-Value	Type
Pfam:MRFAP1	1	125	1.1e-46	PFAM

Meta Mutation Damage Score

0.4351

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.8%
20x: 93.3%

Validation Efficiency

95% (40/42)

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankrd35	C	T	3: 96,589,497 (GRCm39)	Q239*	probably null	Het
Arid4b	T	C	13: 14,294,826 (GRCm39)	V36A	probably damaging	Het
Art2b	T	A	7: 101,229,152 (GRCm39)	N249I	probably benign	Het
Bpifb1	T	A	2: 154,053,485 (GRCm39)	N242K	possibly damaging	Het
Cd200r1	A	G	16: 44,609,939 (GRCm39)	T53A	possibly damaging	Het
Cracr2b	C	T	7: 141,046,059 (GRCm39)	P370S	possibly damaging	Het
Crb1	T	A	1: 139,165,077 (GRCm39)	T1016S	probably damaging	Het
Esrrg	A	G	1: 187,943,299 (GRCm39)	H424R	possibly damaging	Het
Fgfrl1	C	A	5: 108,853,289 (GRCm39)	T213K	probably damaging	Het
Flrt3	T	A	2: 140,503,287 (GRCm39)	N114Y	probably damaging	Het
Fsip2	T	C	2: 82,815,253 (GRCm39)	V3662A	probably benign	Het
Gabra6	T	A	11: 42,205,777 (GRCm39)	I359F	probably benign	Het
Gal	A	G	19: 3,464,026 (GRCm39)		probably null	Het
Gm10801	G	C	2: 98,494,352 (GRCm39)	R143T	possibly damaging	Het
Hcn1	G	A	13: 118,111,788 (GRCm39)	G584D	unknown	Het
Iqgap1	T	C	7: 80,373,537 (GRCm39)	D1484G	probably benign	Het
Kmt2a	G	A	9: 44,760,493 (GRCm39)	T485M	probably damaging	Het
Kprp	C	A	3: 92,731,588 (GRCm39)	Q487H	unknown	Het
Lctl	T	C	9: 64,040,475 (GRCm39)	Y473H	probably damaging	Het
Lrrc8d	G	A	5: 105,974,873 (GRCm39)	C93Y	unknown	Het
Mnt	T	A	11: 74,727,746 (GRCm39)	S211T	possibly damaging	Het
Mtdh	T	A	15: 34,114,258 (GRCm39)		probably benign	Het
Nxt1	T	C	2: 148,517,399 (GRCm39)	W47R	probably damaging	Het
Or4f59	T	A	2: 111,873,168 (GRCm39)	I70F	probably benign	Het
Or5k3	T	C	16: 58,969,846 (GRCm39)	I211T	probably damaging	Het
Plekha7	T	C	7: 115,763,477 (GRCm39)	D313G	possibly damaging	Het
Ranbp10	A	G	8: 106,502,667 (GRCm39)	S300P	probably benign	Het
Rbl1	A	T	2: 157,019,153 (GRCm39)	F531I	probably damaging	Het
Rpap2	A	G	5: 107,768,395 (GRCm39)	D411G	probably damaging	Het
Sapcd1	A	G	17: 35,246,781 (GRCm39)	F36L	probably damaging	Het
Svep1	A	T	4: 58,066,542 (GRCm39)	S3181T	probably benign	Het
Tgfbr2	G	A	9: 115,938,960 (GRCm39)	T314I	probably benign	Het
Thbs4	G	T	13: 92,894,467 (GRCm39)	C685*	probably null	Het
Tk2	A	G	8: 104,957,803 (GRCm39)	V181A	possibly damaging	Het
Traf2	T	C	2: 25,420,427 (GRCm39)	T141A	probably benign	Het
Ttn	C	T	2: 76,661,788 (GRCm39)		probably null	Het
Ube3c	A	G	5: 29,803,936 (GRCm39)	T180A	possibly damaging	Het
Yif1b	C	T	7: 28,937,835 (GRCm39)	A7V	possibly damaging	Het
Zfp738	A	T	13: 67,819,508 (GRCm39)	L151*	probably null	Het

Other mutations in Gm5814

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1973:Gm5814	UTSW	17	47,721,474 (GRCm39)	missense	probably benign	0.00
R4665:Gm5814	UTSW	17	47,721,288 (GRCm39)	start codon destroyed	probably null
R6903:Gm5814	UTSW	17	47,721,352 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- AAGTTTTGAGGACTCGGCC -3'
(R):5'- TCAACCAGAATCCATTGGCTG -3'

Sequencing Primer
(F):5'- CGAGCTCGGTCCGTGAG -3'
(R):5'- ATTGGCTGGAAACCGCG -3'

Posted On

2015-02-19