Mutagenetix > Incidental Mutation

Incidental Mutation 'R1221:Gm4952'

100165

Institutional Source

Beutler Lab

Gene Symbol

Gm4952

Ensembl Gene

ENSMUSG00000071633

Gene Name

predicted gene 4952

Synonyms

MMRRC Submission

039290-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.065) question?

Stock #

R1221 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

12577348-12604980 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 12601059 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 93 (D93V)

Ref Sequence

ENSEMBL: ENSMUSP00000090607 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000092931] [ENSMUST00000181868]

AlphaFold

Q5FW57

Predicted Effect

possibly damaging
Transcript: ENSMUST00000092931
AA Change: D93V

PolyPhen 2 Score 0.506 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000090607
Gene: ENSMUSG00000071633
AA Change: D93V

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	2.6e-90	PFAM
Pfam:Gly_acyl_tr_C	207	295	2.7e-46	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000181868
AA Change: D93V

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000137934
Gene: ENSMUSG00000071633
AA Change: D93V

Domain	Start	End	E-Value	Type
Pfam:Gly_acyl_tr_N	1	206	3.7e-112	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.7%
20x: 94.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	T	C	6: 86,942,460 (GRCm39)	S668P	unknown	Het
Anks1	A	G	17: 28,269,616 (GRCm39)	Q770R	possibly damaging	Het
Apc2	G	A	10: 80,142,214 (GRCm39)	V378I	probably damaging	Het
Apeh	A	G	9: 107,969,808 (GRCm39)	V184A	probably benign	Het
AU018091	A	G	7: 3,208,717 (GRCm39)	F404S	probably damaging	Het
Bap1	T	C	14: 30,979,608 (GRCm39)	L537P	probably damaging	Het
Bhlha15	A	G	5: 144,128,341 (GRCm39)	Y151C	probably damaging	Het
Bmp8b	A	T	4: 123,008,504 (GRCm39)	T157S	probably damaging	Het
Btbd1	G	T	7: 81,468,005 (GRCm39)	H172N	possibly damaging	Het
C1rl	A	G	6: 124,470,940 (GRCm39)	R83G	probably benign	Het
Cep104	A	G	4: 154,072,902 (GRCm39)	T387A	probably benign	Het
Cfi	A	T	3: 129,666,618 (GRCm39)	Q447L	probably damaging	Het
Cimap1a	G	T	7: 140,428,296 (GRCm39)	W10L	probably damaging	Het
Coq6	A	G	12: 84,418,301 (GRCm39)	E295G	possibly damaging	Het
Dclre1a	T	C	19: 56,519,700 (GRCm39)	T978A	possibly damaging	Het
Dlc1	T	C	8: 37,051,985 (GRCm39)	D582G	probably benign	Het
Dlgap2	A	G	8: 14,776,952 (GRCm39)	T65A	probably benign	Het
Dock5	G	A	14: 67,996,610 (GRCm39)	S1711L	probably benign	Het
Drc3	A	C	11: 60,275,052 (GRCm39)	I338L	probably benign	Het
Dsc1	A	T	18: 20,247,599 (GRCm39)	C5*	probably null	Het
F5	A	G	1: 163,989,368 (GRCm39)	Y90C	probably damaging	Het
Gdf10	G	A	14: 33,654,710 (GRCm39)	A406T	probably benign	Het
Gm136	G	T	4: 34,744,127 (GRCm39)	A239E	possibly damaging	Het
Gramd1c	T	C	16: 43,810,227 (GRCm39)	T454A	possibly damaging	Het
Gstm6	A	G	3: 107,848,418 (GRCm39)	I58T	probably damaging	Het
Kdm3b	C	T	18: 34,941,298 (GRCm39)	S263L	possibly damaging	Het
Kdm5b	G	C	1: 134,526,829 (GRCm39)	S317T	probably damaging	Het
Myo15b	A	G	11: 115,777,546 (GRCm39)	R71G	possibly damaging	Het
Nlrp1b	G	A	11: 71,072,290 (GRCm39)	P518S	probably benign	Het
Nme5	A	T	18: 34,704,575 (GRCm39)	I90N	probably damaging	Het
Nrxn1	T	A	17: 90,950,722 (GRCm39)	T478S	probably damaging	Het
Or8g22	A	C	9: 38,958,483 (GRCm39)	D77E	probably damaging	Het
Osmr	G	A	15: 6,853,042 (GRCm39)	Q617*	probably null	Het
Pcsk5	T	C	19: 17,814,512 (GRCm39)	D2G	possibly damaging	Het
Pdpn	G	A	4: 143,000,608 (GRCm39)	R75C	probably damaging	Het
Pidd1	A	T	7: 141,018,725 (GRCm39)	F842Y	probably damaging	Het
Resf1	T	A	6: 149,227,719 (GRCm39)	V255E	probably benign	Het
Sema3a	A	G	5: 13,566,190 (GRCm39)	Q158R	probably benign	Het
Setbp1	T	A	18: 78,899,798 (GRCm39)	R1290W	probably damaging	Het
Slc20a1	G	A	2: 129,050,324 (GRCm39)	G494D	probably benign	Het
Spag17	A	G	3: 99,889,584 (GRCm39)	E151G	possibly damaging	Het
Stt3b	A	G	9: 115,086,567 (GRCm39)	F351L	probably benign	Het
Tas1r2	A	G	4: 139,396,436 (GRCm39)	M592V	probably benign	Het
Tbcd	A	G	11: 121,387,909 (GRCm39)	T347A	probably benign	Het
Tmem109	C	A	19: 10,851,733 (GRCm39)	R37L	possibly damaging	Het
Tmem67	G	A	4: 12,045,871 (GRCm39)	S862L	possibly damaging	Het
Ttn	T	A	2: 76,781,857 (GRCm39)	D1017V	probably damaging	Het
Zfp646	G	A	7: 127,482,292 (GRCm39)	G1490S	probably benign	Het
Zfyve16	T	C	13: 92,644,813 (GRCm39)	S1130G	possibly damaging	Het

Other mutations in Gm4952

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00898:Gm4952	APN	19	12,595,772 (GRCm39)	missense	probably damaging	1.00
IGL00990:Gm4952	APN	19	12,600,987 (GRCm39)	missense	probably damaging	1.00
IGL01542:Gm4952	APN	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
IGL01714:Gm4952	APN	19	12,602,075 (GRCm39)	missense	probably benign	0.16
IGL02339:Gm4952	APN	19	12,604,275 (GRCm39)	missense	probably damaging	0.98
IGL03068:Gm4952	APN	19	12,601,068 (GRCm39)	missense	probably damaging	0.99
IGL03100:Gm4952	APN	19	12,602,083 (GRCm39)	critical splice donor site	probably null
IGL03274:Gm4952	APN	19	12,600,960 (GRCm39)	splice site	probably benign
IGL03295:Gm4952	APN	19	12,595,691 (GRCm39)	missense	probably benign	0.39
PIT4520001:Gm4952	UTSW	19	12,602,048 (GRCm39)	missense	probably benign	0.12
R0604:Gm4952	UTSW	19	12,602,036 (GRCm39)	missense	probably benign	0.07
R1513:Gm4952	UTSW	19	12,602,039 (GRCm39)	missense	probably damaging	0.99
R1514:Gm4952	UTSW	19	12,604,278 (GRCm39)	missense	probably damaging	1.00
R1804:Gm4952	UTSW	19	12,595,784 (GRCm39)	missense	probably damaging	0.98
R1928:Gm4952	UTSW	19	12,600,973 (GRCm39)	missense	probably damaging	0.99
R2447:Gm4952	UTSW	19	12,595,770 (GRCm39)	missense	possibly damaging	0.70
R4930:Gm4952	UTSW	19	12,604,376 (GRCm39)	missense	probably benign	0.00
R5360:Gm4952	UTSW	19	12,600,993 (GRCm39)	missense	probably benign	0.08
R5704:Gm4952	UTSW	19	12,604,275 (GRCm39)	missense	probably damaging	1.00
R7143:Gm4952	UTSW	19	12,595,771 (GRCm39)	missense	possibly damaging	0.76
R7332:Gm4952	UTSW	19	12,604,373 (GRCm39)	missense	probably damaging	1.00
R7420:Gm4952	UTSW	19	12,604,265 (GRCm39)	missense	probably damaging	1.00
R7702:Gm4952	UTSW	19	12,604,428 (GRCm39)	missense	probably benign	0.00
R9573:Gm4952	UTSW	19	12,604,090 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGAAGCTAACGGCTGCTGAGAGAC -3'
(R):5'- AAACAGGTCAGAGGTCAAGCCCTGTC -3'

Sequencing Primer
(F):5'- ggaggaattggagtgacagag -3'
(R):5'- CAGACCAAGGTATGTTCATTAGGTTG -3'

Posted On

2014-01-15