Mutagenetix > Incidental Mutation

Incidental Mutation 'R8423:Gm17175'

653321

Institutional Source

Beutler Lab

Gene Symbol

Gm17175

Ensembl Gene

ENSMUSG00000091142

Gene Name

predicted gene 17175

Synonyms

MMRRC Submission

067899-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.057) question?

Stock #

R8423 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51806349-51811520 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51809070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Phenylalanine at position 99 (I99F)

Ref Sequence

ENSEMBL: ENSMUSP00000127078 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000096170] [ENSMUST00000162998] [ENSMUST00000172117]

AlphaFold

E9Q528

Predicted Effect

probably benign
Transcript: ENSMUST00000096170

SMART Domains

Protein: ENSMUSP00000093884
Gene: ENSMUSG00000079244

Domain	Start	End	E-Value	Type
Pfam:Takusan	56	144	1.3e-21	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000162998

SMART Domains

Protein: ENSMUSP00000125409
Gene: ENSMUSG00000068399

Domain	Start	End	E-Value	Type
Pfam:Takusan	35	115	2.2e-25	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000172117
AA Change: I99F

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000127078
Gene: ENSMUSG00000091142
AA Change: I99F

Domain	Start	End	E-Value	Type
Pfam:Takusan	23	103	3.3e-26	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

98% (46/47)

Allele List at MGI

Other mutations in this stock

Total: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6b	A	G	12: 113,454,530 (GRCm39)	D449G	possibly damaging	Het
Ampd1	T	C	3: 102,988,305 (GRCm39)	S83P	probably benign	Het
Bub1	G	A	2: 127,649,750 (GRCm39)	L703F	probably benign	Het
C1rb	T	A	6: 124,551,617 (GRCm39)	D242E	probably damaging	Het
Carf	T	A	1: 60,189,752 (GRCm39)	L659Q	possibly damaging	Het
Carmil3	A	G	14: 55,736,522 (GRCm39)	N662S	probably damaging	Het
Ccno	A	G	13: 113,124,678 (GRCm39)	S83G	possibly damaging	Het
Chd3	A	T	11: 69,245,252 (GRCm39)	Y1155*	probably null	Het
Clec16a	A	G	16: 10,394,527 (GRCm39)	E295G	probably benign	Het
Clnk	A	G	5: 38,952,253 (GRCm39)		probably null	Het
Clvs2	T	C	10: 33,498,855 (GRCm39)	D25G	possibly damaging	Het
Cnr2	C	T	4: 135,644,827 (GRCm39)	R302W	probably damaging	Het
Col20a1	A	G	2: 180,640,498 (GRCm39)	T594A	probably damaging	Het
Dclk3	C	T	9: 111,297,787 (GRCm39)	R444W	possibly damaging	Het
Dmxl1	T	C	18: 49,998,183 (GRCm39)	V761A	probably damaging	Het
Dnah7a	C	A	1: 53,512,063 (GRCm39)	K2999N	possibly damaging	Het
Dusp28	T	C	1: 92,834,906 (GRCm39)	S44P	probably damaging	Het
Enpep	T	G	3: 129,102,774 (GRCm39)	N394T	probably damaging	Het
Fam135a	A	T	1: 24,060,998 (GRCm39)	F1343I	probably damaging	Het
Fbxl12	C	A	9: 20,550,160 (GRCm39)	R165L	possibly damaging	Het
Fbxo40	A	T	16: 36,790,947 (GRCm39)	H54Q	probably damaging	Het
Galnt9	A	G	5: 110,744,111 (GRCm39)	D315G	probably benign	Het
Gbp4	T	A	5: 105,267,800 (GRCm39)	D482V	probably damaging	Het
Heatr4	A	G	12: 84,027,104 (GRCm39)	F51S	probably benign	Het
Herc1	T	C	9: 66,415,442 (GRCm39)	S4806P	probably damaging	Het
Hoxc11	G	A	15: 102,863,177 (GRCm39)	V73I	possibly damaging	Het
Knl1	T	G	2: 118,900,513 (GRCm39)	I738S	probably damaging	Het
Lcor	T	C	19: 41,573,888 (GRCm39)	I881T	possibly damaging	Het
Lipt2	T	C	7: 99,809,450 (GRCm39)	F179S	probably damaging	Het
Lrrc8b	G	A	5: 105,628,622 (GRCm39)	V323M	probably damaging	Het
Ltbp1	T	C	17: 75,599,852 (GRCm39)	S665P	probably benign	Het
Miga1	A	T	3: 152,028,045 (GRCm39)	D161E	probably benign	Het
Mynn	A	G	3: 30,657,933 (GRCm39)	T84A	probably benign	Het
Or13c7d	T	C	4: 43,770,598 (GRCm39)	S138G	possibly damaging	Het
Or3a1b	T	C	11: 74,012,492 (GRCm39)	F126L	probably benign	Het
Or4a75	A	T	2: 89,448,331 (GRCm39)	D68E	probably damaging	Het
Pik3r3	C	T	4: 116,079,572 (GRCm39)	S23L	probably benign	Het
Plat	G	T	8: 23,262,248 (GRCm39)	G91W	probably damaging	Het
Plscr4	C	T	9: 92,372,843 (GRCm39)	R322*	probably null	Het
Ralgapa1	A	G	12: 55,705,847 (GRCm39)	S1892P	probably damaging	Het
Slc6a18	T	A	13: 73,813,693 (GRCm39)	Q540L	probably benign	Het
Tfap2a	A	T	13: 40,872,706 (GRCm39)	N323K	possibly damaging	Het
Tgm1	A	T	14: 55,943,100 (GRCm39)	M580K	probably benign	Het
Tnrc6b	G	A	15: 80,813,619 (GRCm39)	G1792D	unknown	Het
Trim66	T	A	7: 109,074,599 (GRCm39)	Q554L	possibly damaging	Het
Ttc28	G	A	5: 111,381,207 (GRCm39)	D1240N	probably benign	Het
Vmn1r238	G	T	18: 3,123,365 (GRCm39)	C16*	probably null	Het
Vmn1r6	G	A	6: 56,979,495 (GRCm39)	M52I	probably benign	Het
Zfp61	A	G	7: 23,991,459 (GRCm39)	F231L	probably benign	Het

Other mutations in Gm17175

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Gm17175	APN	14	51,810,526 (GRCm39)	missense	possibly damaging	0.77
IGL01347:Gm17175	APN	14	51,808,307 (GRCm39)	missense	probably damaging	0.99
IGL01553:Gm17175	APN	14	51,808,279 (GRCm39)	missense	probably benign	0.00
IGL02436:Gm17175	APN	14	51,807,108 (GRCm39)	utr 3 prime	probably benign
IGL02485:Gm17175	APN	14	51,807,068 (GRCm39)	utr 3 prime	probably benign
IGL03171:Gm17175	APN	14	51,809,065 (GRCm39)	missense	probably damaging	1.00
R4120:Gm17175	UTSW	14	51,810,534 (GRCm39)	missense	probably damaging	0.97
R4614:Gm17175	UTSW	14	51,809,042 (GRCm39)	missense	probably benign	0.28
R6496:Gm17175	UTSW	14	51,810,534 (GRCm39)	missense	probably benign	0.05
R6817:Gm17175	UTSW	14	51,810,478 (GRCm39)	missense	possibly damaging	0.91
R7000:Gm17175	UTSW	14	51,811,418 (GRCm39)	start codon destroyed	probably null
R7814:Gm17175	UTSW	14	51,811,492 (GRCm39)	start gained	probably benign
R8074:Gm17175	UTSW	14	51,809,080 (GRCm39)	missense	probably damaging	0.97
R9608:Gm17175	UTSW	14	51,809,099 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CATGGTGGAAACCTTTTCGATC -3'
(R):5'- CGACTGGCATATATGGGGTG -3'

Sequencing Primer
(F):5'- GGAAACCTTTTCGATCTTGAGGATAC -3'
(R):5'- TGGGGTAGTGCATAATTCAGC -3'

Posted On

2020-10-20