Mutagenetix > Incidental Mutations

Incidental Mutation 'R5431:Gm14393'

428036

Institutional Source

Beutler Lab

Gene Symbol

Gm14393

Ensembl Gene

ENSMUSG00000078905

Gene Name

predicted gene 14393

Synonyms

MMRRC Submission

042847-MU

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.147) question?

Stock #

R5431 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

175061549-175067781 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 175063876 bp

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 41 (T41I)

Ref Sequence

ENSEMBL: ENSMUSP00000072668 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072895] [ENSMUST00000109066]

Predicted Effect

probably damaging
Transcript: ENSMUST00000072895
AA Change: T41I

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000072668
Gene: ENSMUSG00000078905
AA Change: T41I

Domain	Start	End	E-Value	Type
KRAB	4	66	9.34e-15	SMART
ZnF_C2H2	103	125	8.47e-4	SMART
ZnF_C2H2	131	153	9.22e-5	SMART
ZnF_C2H2	159	181	1.03e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109066
AA Change: T41I

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000104694
Gene: ENSMUSG00000078905
AA Change: T41I

Domain	Start	End	E-Value	Type
KRAB	4	64	1.21e-13	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000122320

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310061N02Rik	T	C	16: 88,707,538	S124G	possibly damaging	Het
4921539E11Rik	T	C	4: 103,270,848	T27A	probably benign	Het
Aspg	T	A	12: 112,123,412	N461K	probably benign	Het
B4galnt3	T	A	6: 120,218,967	T300S	probably damaging	Het
BC035044	A	G	6: 128,885,007		probably benign	Het
Bmp5	C	T	9: 75,893,709	P374S	probably damaging	Het
C330018D20Rik	A	T	18: 56,957,856	F78L	probably benign	Het
Cds2	T	A	2: 132,302,170	S289T	probably benign	Het
Cerkl	C	T	2: 79,341,335	C393Y	probably damaging	Het
Ciita	C	T	16: 10,523,792	R1020C	probably damaging	Het
Dcaf13	C	A	15: 39,123,224	D130E	probably benign	Het
Dnal4	C	T	15: 79,762,447	G50R	probably damaging	Het
Elfn1	A	G	5: 139,971,568	N109S	probably damaging	Het
Ep400	A	G	5: 110,676,554	V2435A	unknown	Het
Fam178b	T	C	1: 36,632,485	E185G	probably damaging	Het
Fam227b	C	A	2: 126,126,931	L74F	probably benign	Het
Fam92b	C	A	8: 120,167,303		probably null	Het
Fgfr4	G	A	13: 55,156,651	V138I	probably benign	Het
Flnc	A	G	6: 29,456,384	I2161V	possibly damaging	Het
Frmd5	T	C	2: 121,562,909	N235S	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Ggt6	A	G	11: 72,437,738	T355A	possibly damaging	Het
Gpr151	A	C	18: 42,578,867	S249A	probably damaging	Het
Gpr152	T	A	19: 4,143,747	V429D	probably benign	Het
Grm7	G	A	6: 111,358,426	M599I	probably benign	Het
Hdac4	T	A	1: 91,972,790	R54*	probably null	Het
Ice1	A	G	13: 70,592,650	L2146S	probably damaging	Het
Igfbpl1	C	T	4: 45,815,588	V183I	probably benign	Het
Kel	G	A	6: 41,698,420	S299F	probably benign	Het
Kif14	T	C	1: 136,496,695	I1016T	possibly damaging	Het
Lhx3	T	C	2: 26,201,118	D395G	probably damaging	Het
Micu1	T	C	10: 59,750,521	Y140H	possibly damaging	Het
Myt1l	G	A	12: 29,832,332	G509R	unknown	Het
Nbn	C	T	4: 15,986,593	H665Y	probably benign	Het
Pkhd1	G	T	1: 20,117,836	T3416K	probably benign	Het
Plxnb1	T	C	9: 109,100,772	F232S	probably damaging	Het
Pus7l	T	C	15: 94,529,486	N472D	probably damaging	Het
Rfx1	C	T	8: 84,082,720	Q225*	probably null	Het
Rnase2a	T	C	14: 51,255,563	Y115C	possibly damaging	Het
Ryr1	T	A	7: 29,109,812	D386V	probably benign	Het
Sfi1	A	ATCTTCCCAAAGCCAGTGC	11: 3,153,384		probably benign	Homo
Sgcz	T	A	8: 37,639,984	T125S	probably damaging	Het
Sntb1	C	G	15: 55,642,795	G461R	probably damaging	Het
Syt2	A	G	1: 134,740,957	S36G	probably benign	Het
Tcaf3	A	G	6: 42,597,185	L31P	probably damaging	Het
Tenm3	C	A	8: 48,367,377	E142*	probably null	Het
Tgfbr2	G	T	9: 116,131,601	S94R	probably damaging	Het
Vmn2r12	A	G	5: 109,091,818	I293T	probably damaging	Het
Wrap73	G	A	4: 154,145,274	R34Q	probably damaging	Het
Zc3h14	A	G	12: 98,780,065	D511G	possibly damaging	Het
Zcchc11	T	A	4: 108,491,412	I297N	probably damaging	Het

Other mutations in Gm14393

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02873:Gm14393	APN	2	175061802	missense	possibly damaging	0.53
IGL03049:Gm14393	APN	2	175061788	missense	probably damaging	1.00
FR4340:Gm14393	UTSW	2	175061634	missense	possibly damaging	0.48
FR4976:Gm14393	UTSW	2	175061820	missense	probably benign
R1470:Gm14393	UTSW	2	175063981	missense	probably damaging	1.00
R1470:Gm14393	UTSW	2	175063981	missense	probably damaging	1.00
R3940:Gm14393	UTSW	2	175061627	splice site	probably null
R4214:Gm14393	UTSW	2	175061847	missense	probably benign	0.00
R4585:Gm14393	UTSW	2	175062704	unclassified	probably benign
R4586:Gm14393	UTSW	2	175062704	unclassified	probably benign
R5553:Gm14393	UTSW	2	175061846	nonsense	probably null
R5942:Gm14393	UTSW	2	175061896	nonsense	probably null
R6497:Gm14393	UTSW	2	175061634	missense	possibly damaging	0.48
R7154:Gm14393	UTSW	2	175061783	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTGCAGAGGAAAATTACCTTCCATGAC -3'
(R):5'- AAAGTACTATGTGGGTGGGC -3'

Sequencing Primer
(F):5'- TGTTCTTCCCAAATGTAACCTAAACC -3'
(R):5'- GCAGTCAGCGAATATTCATTTTG -3'

Posted On

2016-09-01