Mutagenetix > Incidental Mutation

Incidental Mutation 'R5863:Gm14226'

453997

Institutional Source

Beutler Lab

Gene Symbol

Gm14226

Ensembl Gene

ENSMUSG00000084897

Gene Name

predicted gene 14226

Synonyms

MMRRC Submission

043232-MU

Accession Numbers

Essential gene?

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

Stock #

R5863 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

154860186-154869024 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 154866211 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Asparagine at position 56 (T56N)

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

probably benign
Transcript: ENSMUST00000130870
AA Change: T56N

PolyPhen 2 Score 0.193 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000122157
Gene: ENSMUSG00000084897
AA Change: T56N

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aacs	T	C	5: 125,580,287 (GRCm39)	I204T	possibly damaging	Het
Abcc2	A	G	19: 43,786,575 (GRCm39)	I136V	probably benign	Het
Adam6a	T	C	12: 113,507,987 (GRCm39)	I120T	probably benign	Het
Add3	C	A	19: 53,222,301 (GRCm39)	L303I	probably benign	Het
Anln	A	G	9: 22,249,280 (GRCm39)	L149P	probably damaging	Het
Arhgef4	A	G	1: 34,761,926 (GRCm39)	E394G	unknown	Het
Asns	G	A	6: 7,675,443 (GRCm39)	Q520*	probably null	Het
Auh	T	G	13: 53,052,694 (GRCm39)	N141T	probably benign	Het
B3galt2	G	A	1: 143,522,104 (GRCm39)	R80Q	probably benign	Het
Bcl9	T	C	3: 97,117,666 (GRCm39)	T343A	probably benign	Het
C3	T	A	17: 57,530,141 (GRCm39)	I487F	probably benign	Het
Cast	T	C	13: 74,884,875 (GRCm39)	K326E	probably damaging	Het
Ccdc185	T	A	1: 182,576,122 (GRCm39)	H189L	possibly damaging	Het
Cep112	A	G	11: 108,497,058 (GRCm39)	E51G	probably damaging	Het
Cpvl	G	A	6: 53,850,413 (GRCm39)	P475S	probably damaging	Het
Cstf2t	G	T	19: 31,060,477 (GRCm39)	L4F	probably damaging	Het
Dido1	A	G	2: 180,303,566 (GRCm39)	V1446A	probably benign	Het
Dlg2	T	A	7: 91,360,987 (GRCm39)	M35K	probably benign	Het
Dnah12	C	T	14: 26,576,878 (GRCm39)	L3043F	probably damaging	Het
Fam135a	A	G	1: 24,053,863 (GRCm39)	S1225P	possibly damaging	Het
Fhod3	T	C	18: 25,258,810 (GRCm39)	F1443S	probably benign	Het
Flacc1	G	T	1: 58,730,908 (GRCm39)	H49Q	probably benign	Het
Itgb4	C	T	11: 115,881,748 (GRCm39)	R766W	probably damaging	Het
Kcnj8	T	A	6: 142,511,414 (GRCm39)	I398F	probably benign	Het
Khdrbs1	G	A	4: 129,616,493 (GRCm39)	R284C	probably damaging	Het
Nog	A	G	11: 89,192,356 (GRCm39)	L164P	probably damaging	Het
Or13a18	G	A	7: 140,190,544 (GRCm39)	G155D	probably damaging	Het
Or8c20	T	C	9: 38,261,083 (GRCm39)	S235P	probably benign	Het
Pkhd1	T	A	1: 20,590,434 (GRCm39)	Q1771L	possibly damaging	Het
Prl3c1	T	A	13: 27,387,593 (GRCm39)	*193K	probably null	Het
Prpf4b	T	A	13: 35,083,111 (GRCm39)	I829N	possibly damaging	Het
Rassf1	C	T	9: 107,435,023 (GRCm39)	P103S	probably damaging	Het
Rdh16f2	A	C	10: 127,712,256 (GRCm39)	I238L	probably benign	Het
Sdk2	G	T	11: 113,725,810 (GRCm39)	D1146E	probably damaging	Het
Slc16a3	T	C	11: 120,848,779 (GRCm39)	F412L	probably benign	Het
Slc24a1	T	C	9: 64,835,824 (GRCm39)	T768A	unknown	Het
Stk32a	A	G	18: 43,448,209 (GRCm39)	N396S	probably benign	Het
Ston1	T	C	17: 88,943,373 (GRCm39)	S260P	possibly damaging	Het
Tmem135	A	G	7: 88,797,176 (GRCm39)		probably null	Het
Tmem30c	A	G	16: 57,090,418 (GRCm39)	V263A	probably benign	Het
Ttn	T	A	2: 76,587,102 (GRCm39)	T21632S	probably damaging	Het
Ube2w	A	G	1: 16,655,531 (GRCm39)	I141T	probably damaging	Het
Zbtb47	A	G	9: 121,596,596 (GRCm39)	S651G	probably benign	Het
Zscan20	A	T	4: 128,480,141 (GRCm39)	C783*	probably null	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
R5673:Gm14226	UTSW	2	154,866,842 (GRCm39)	missense	possibly damaging	0.81
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'- AATGCTAGATGGCTCCCTGA -3'
(R):5'- GTGGGTTTCCAATAGGTGTCTCC -3'

Sequencing Primer
(F):5'- CTTCTTTACAGGAGAATGAAAGCGCC -3'
(R):5'- ATTAAGAGTGCGACTCCTGTGAC -3'

Posted On

2017-02-10