Mutagenetix > Incidental Mutation

Incidental Mutation 'R5673:Gm14226'

442708

Institutional Source

Beutler Lab

Gene Symbol

Gm14226

Ensembl Gene

ENSMUSG00000084897

Gene Name

predicted gene 14226

Synonyms

MMRRC Submission

043175-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.192) question?

Stock #

R5673 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154860186-154869024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 154866842 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 266 (S266R)

Ref Sequence

ENSEMBL: ENSMUSP00000122157 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029123] [ENSMUST00000109697] [ENSMUST00000130870] [ENSMUST00000137333] [ENSMUST00000148402]

AlphaFold

Q3TZL0

Predicted Effect

probably benign
Transcript: ENSMUST00000029123

SMART Domains

Protein: ENSMUSP00000029123
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	127	3.98e-69	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109697

SMART Domains

Protein: ENSMUSP00000105319
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	127	3.98e-69	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000130870
AA Change: S266R

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000122157
Gene: ENSMUSG00000084897
AA Change: S266R

Domain	Start	End	E-Value	Type
Pfam:TLV_coat	14	627	1.4e-139	PFAM
low complexity region	649	662	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132342

Predicted Effect

probably benign
Transcript: ENSMUST00000137333

SMART Domains

Protein: ENSMUSP00000122261
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	70	2.53e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000148402

SMART Domains

Protein: ENSMUSP00000121072
Gene: ENSMUSG00000027596

Domain	Start	End	E-Value	Type
Agouti	6	75	2.32e-6	SMART

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.3%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abhd18	T	A	3: 40,877,886 (GRCm39)	M94K	probably damaging	Het
Adam2	A	G	14: 66,306,681 (GRCm39)	Y103H	probably benign	Het
Adamts17	T	C	7: 66,691,555 (GRCm39)	C580R	probably damaging	Het
Aqp5	G	A	15: 99,492,046 (GRCm39)	V98I	probably benign	Het
Brd2	A	G	17: 34,331,581 (GRCm39)		probably benign	Het
Cd177	T	C	7: 24,449,787 (GRCm39)	N566S	probably damaging	Het
Cdh23	C	T	10: 60,143,636 (GRCm39)	D2992N	probably damaging	Het
Cfap69	T	C	5: 5,646,027 (GRCm39)	T140A	possibly damaging	Het
Cfi	A	G	3: 129,648,658 (GRCm39)	I181V	probably benign	Het
Cnksr1	A	G	4: 133,962,499 (GRCm39)	L133P	probably damaging	Het
Col1a2	C	T	6: 4,539,622 (GRCm39)	L1297F	unknown	Het
Crot	T	C	5: 9,038,131 (GRCm39)	N132S	probably benign	Het
Dnah3	T	A	7: 119,550,812 (GRCm39)	Q3169L	possibly damaging	Het
Dnah8	T	A	17: 31,022,235 (GRCm39)	M3945K	probably damaging	Het
Fam186a	A	C	15: 99,839,628 (GRCm39)	H2205Q	possibly damaging	Het
Fam204a	T	C	19: 60,188,415 (GRCm39)	K216E	probably damaging	Het
Far2	A	T	6: 148,047,602 (GRCm39)	S94C	possibly damaging	Het
Gpr137	A	G	19: 6,916,466 (GRCm39)	F276L	probably damaging	Het
Lhx3	T	C	2: 26,093,006 (GRCm39)	Y148C	probably damaging	Het
Lrfn2	T	C	17: 49,403,625 (GRCm39)	S583P	probably benign	Het
Lrrc40	A	G	3: 157,754,035 (GRCm39)		probably null	Het
Mast4	A	T	13: 102,930,580 (GRCm39)	I224N	probably damaging	Het
Meis1	T	C	11: 18,962,812 (GRCm39)	K161E	probably damaging	Het
Mptx2	G	A	1: 173,102,414 (GRCm39)	L92F	probably benign	Het
Mrgprb2	A	T	7: 48,202,121 (GRCm39)	F201L	probably benign	Het
Mroh1	T	A	15: 76,314,381 (GRCm39)	L686Q	probably damaging	Het
Mybbp1a	G	A	11: 72,335,751 (GRCm39)	V421I	probably benign	Het
Nadk	G	A	4: 155,669,642 (GRCm39)	V143I	possibly damaging	Het
Nell1	A	T	7: 49,878,594 (GRCm39)	T272S	probably damaging	Het
Npnt	A	T	3: 132,623,258 (GRCm39)	C94S	probably damaging	Het
Olfml2b	T	A	1: 170,509,698 (GRCm39)	V682E	probably damaging	Het
Pacs2	G	A	12: 113,032,618 (GRCm39)	V655M	probably damaging	Het
Pcdha1	A	C	18: 37,063,726 (GRCm39)	N130T	probably damaging	Het
Resf1	C	T	6: 149,229,491 (GRCm39)	Q846*	probably null	Het
Rnf145	G	A	11: 44,422,120 (GRCm39)	V68M	possibly damaging	Het
Sh3pxd2a	A	G	19: 47,257,105 (GRCm39)	S566P	probably damaging	Het
Sirpa	T	G	2: 129,472,022 (GRCm39)	V483G	probably damaging	Het
Sox5	T	C	6: 144,062,206 (GRCm39)	R149G	probably damaging	Het
Tbc1d4	A	G	14: 101,692,444 (GRCm39)	S1007P	probably damaging	Het
Tnfrsf8	A	G	4: 145,011,905 (GRCm39)	F317L	probably benign	Het
Ttn	T	C	2: 76,547,389 (GRCm39)	K32219R	probably damaging	Het
Vmn1r170	A	T	7: 23,305,630 (GRCm39)	T11S	possibly damaging	Het
Vmn2r65	G	T	7: 84,596,615 (GRCm39)	L147I	probably benign	Het
Vmn2r77	C	T	7: 86,461,214 (GRCm39)	H847Y	probably benign	Het

Other mutations in Gm14226

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00402:Gm14226	APN	2	154,867,078 (GRCm39)	missense	probably damaging	1.00
IGL02852:Gm14226	APN	2	154,866,841 (GRCm39)	missense	possibly damaging	0.91
R0279:Gm14226	UTSW	2	154,867,372 (GRCm39)	missense	possibly damaging	0.82
R1393:Gm14226	UTSW	2	154,866,111 (GRCm39)	missense	probably damaging	1.00
R1740:Gm14226	UTSW	2	154,866,851 (GRCm39)	intron	probably benign
R1758:Gm14226	UTSW	2	154,867,378 (GRCm39)	missense	probably damaging	1.00
R1816:Gm14226	UTSW	2	154,867,549 (GRCm39)	missense	probably damaging	1.00
R1837:Gm14226	UTSW	2	154,866,930 (GRCm39)	missense	probably benign	0.31
R1951:Gm14226	UTSW	2	154,866,255 (GRCm39)	missense	possibly damaging	0.92
R4485:Gm14226	UTSW	2	154,867,191 (GRCm39)	missense	probably benign	0.18
R4947:Gm14226	UTSW	2	154,866,879 (GRCm39)	missense	probably benign	0.21
R5061:Gm14226	UTSW	2	154,867,106 (GRCm39)	missense	probably benign	0.13
R5863:Gm14226	UTSW	2	154,866,211 (GRCm39)	missense	probably benign	0.19
R6525:Gm14226	UTSW	2	154,867,003 (GRCm39)	missense	possibly damaging	0.67
R6996:Gm14226	UTSW	2	154,866,357 (GRCm39)	missense	probably benign	0.00
R7546:Gm14226	UTSW	2	154,867,131 (GRCm39)	missense	probably damaging	0.96
R7593:Gm14226	UTSW	2	154,866,114 (GRCm39)	missense	unknown
R7775:Gm14226	UTSW	2	154,866,630 (GRCm39)	missense	possibly damaging	0.71
R7778:Gm14226	UTSW	2	154,866,630 (GRCm39)	missense	possibly damaging	0.71
R8254:Gm14226	UTSW	2	154,866,646 (GRCm39)	missense	possibly damaging	0.52
R8558:Gm14226	UTSW	2	154,866,909 (GRCm39)	missense	probably benign	0.03
R8712:Gm14226	UTSW	2	154,866,094 (GRCm39)	missense	unknown
R8815:Gm14226	UTSW	2	154,866,538 (GRCm39)	nonsense	probably null
R9149:Gm14226	UTSW	2	154,866,843 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CACCTATTGGAAACCCACTTCTG -3'
(R):5'- ACCTGACTTAAAGTGAGCCCAT -3'

Sequencing Primer
(F):5'- TCCTTTACTGACGCAGGAAG -3'
(R):5'- ACGACTGATCCGAATGTTGC -3'

Posted On

2016-11-09