Mutagenetix > Incidental Mutation

Incidental Mutation 'R5321:Gm14410'

406098

Institutional Source

Beutler Lab

Gene Symbol

Gm14410

Ensembl Gene

ENSMUSG00000078870

Gene Name

predicted gene 14410

Synonyms

MMRRC Submission

042904-MU

Accession Numbers

Essential gene?

Not available question?

Stock #

R5321 (G1)

Quality Score

Status

Not validated

Chromosome

Chromosomal Location

176882368-176898289 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 176885298 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 322 (T322I)

Ref Sequence

ENSEMBL: ENSMUSP00000114668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108964] [ENSMUST00000133301]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000108964

SMART Domains

Protein: ENSMUSP00000104592
Gene: ENSMUSG00000078870

Domain	Start	End	E-Value	Type
KRAB	4	64	1.47e-12	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000133301
AA Change: T322I

PolyPhen 2 Score 0.964 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000114668
Gene: ENSMUSG00000078870
AA Change: T322I

Domain	Start	End	E-Value	Type
KRAB	4	66	1.84e-13	SMART
ZnF_C2H2	78	97	1.61e2	SMART
ZnF_C2H2	103	125	4.17e-3	SMART
ZnF_C2H2	131	153	9.58e-3	SMART
ZnF_C2H2	159	181	5.67e-5	SMART
ZnF_C2H2	187	209	4.01e-5	SMART
ZnF_C2H2	215	237	5.99e-4	SMART
ZnF_C2H2	243	265	8.47e-4	SMART
ZnF_C2H2	271	293	1.67e-2	SMART
ZnF_C2H2	299	321	3.89e-3	SMART
ZnF_C2H2	327	349	1.82e-3	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156269

Coding Region Coverage

1x: 99.4%
3x: 98.8%
10x: 97.7%
20x: 96.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 30 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca5	A	G	11: 110,218,651 (GRCm39)	F72L	probably benign	Het
Btrc	G	A	19: 45,496,197 (GRCm39)	V211M	probably damaging	Het
Col6a5	A	T	9: 105,805,664 (GRCm39)	Y1081N	unknown	Het
Cryzl1	T	C	16: 91,504,118 (GRCm39)	Y109C	probably benign	Het
Dlec1	T	A	9: 118,941,669 (GRCm39)	S352T	probably benign	Het
Dzip3	T	G	16: 48,778,038 (GRCm39)	T349P	possibly damaging	Het
Endou	A	G	15: 97,618,913 (GRCm39)	V37A	probably damaging	Het
Exosc1	A	T	19: 41,912,499 (GRCm39)	C129*	probably null	Het
Flywch1	C	G	17: 23,975,625 (GRCm39)	R539P	probably damaging	Het
Lcor	G	T	19: 41,573,643 (GRCm39)	W799C	probably damaging	Het
Lpin2	G	A	17: 71,553,853 (GRCm39)	V857M	probably damaging	Het
Or52ae9	T	C	7: 103,389,862 (GRCm39)	N195S	probably damaging	Het
Patl1	A	G	19: 11,898,785 (GRCm39)	Q160R	probably damaging	Het
Phtf1	C	T	3: 103,910,827 (GRCm39)	T606I	probably benign	Het
Polr3a	T	C	14: 24,505,009 (GRCm39)	I1084V	possibly damaging	Het
Scrt1	T	C	15: 76,403,370 (GRCm39)	S207G	unknown	Het
Slc15a5	G	T	6: 137,964,436 (GRCm39)	N496K	probably benign	Het
Slc34a1	A	T	13: 23,996,614 (GRCm39)	I40F	possibly damaging	Het
Tdrd12	A	C	7: 35,177,519 (GRCm39)	V945G	probably damaging	Het
Tdrkh	C	A	3: 94,332,965 (GRCm39)	L169I	probably damaging	Het
Tmem59l	A	G	8: 70,939,865 (GRCm39)	C35R	probably damaging	Het
Tpte	A	T	8: 22,787,219 (GRCm39)	R33*	probably null	Het
Trpv2	T	A	11: 62,475,397 (GRCm39)	L270H	probably damaging	Het
Utp18	A	G	11: 93,757,260 (GRCm39)	L468P	probably damaging	Het
Uxs1	A	G	1: 43,844,805 (GRCm39)	I51T	probably damaging	Het
Vmn1r20	C	T	6: 57,409,427 (GRCm39)	S251L	probably benign	Het
Vmn1r24	A	T	6: 57,933,182 (GRCm39)	L112*	probably null	Het
Vmn1r5	T	C	6: 56,962,592 (GRCm39)	L89P	probably damaging	Het
Vmn2r10	G	T	5: 109,143,505 (GRCm39)	A815E	probably damaging	Het
Zfp119a	A	T	17: 56,172,595 (GRCm39)	L416H	probably damaging	Het

Other mutations in Gm14410

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1165:Gm14410	UTSW	2	176,885,282 (GRCm39)	nonsense	probably null
R4528:Gm14410	UTSW	2	176,885,736 (GRCm39)	missense	probably benign	0.00
R4528:Gm14410	UTSW	2	176,885,734 (GRCm39)	missense	probably damaging	1.00
R4591:Gm14410	UTSW	2	176,885,820 (GRCm39)	missense	possibly damaging	0.53
R6247:Gm14410	UTSW	2	176,885,517 (GRCm39)	missense	probably damaging	0.99
R6528:Gm14410	UTSW	2	176,885,301 (GRCm39)	missense	probably damaging	0.99
R6863:Gm14410	UTSW	2	176,885,860 (GRCm39)	nonsense	probably null
R7302:Gm14410	UTSW	2	176,885,648 (GRCm39)	missense	probably damaging	1.00
R7474:Gm14410	UTSW	2	176,894,618 (GRCm39)	critical splice donor site	probably null
R7761:Gm14410	UTSW	2	176,885,527 (GRCm39)	missense	probably benign	0.09
R7799:Gm14410	UTSW	2	176,885,613 (GRCm39)	missense	probably damaging	1.00
R8560:Gm14410	UTSW	2	176,885,445 (GRCm39)	missense	probably damaging	1.00
R9594:Gm14410	UTSW	2	176,885,773 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- TACTGCTTGCGAAGGCTTTAC -3'
(R):5'- TTGCAATAAGTGGTGACCTCC -3'

Sequencing Primer
(F):5'- GCGAAGGCTTTACCACATTG -3'
(R):5'- TGCAATAAGTGGTGACCTCCAAAAAC -3'

Posted On

2016-07-22