Mutagenetix > Incidental Mutation

Incidental Mutation 'R7090:Gm14403'

550135

Institutional Source

Beutler Lab

Gene Symbol

Gm14403

Ensembl Gene

ENSMUSG00000094786

Gene Name

predicted gene 14403

Synonyms

MMRRC Submission

045184-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.144) question?

Stock #

R7090 (G1)

Quality Score

196.009

Status

Validated

Chromosome

Chromosomal Location

177190008-177201556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 177201114 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 111 (N111S)

Ref Sequence

ENSEMBL: ENSMUSP00000104568 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000108940] [ENSMUST00000108947]

AlphaFold

A2BFU4

Predicted Effect

possibly damaging
Transcript: ENSMUST00000108940
AA Change: N111S

PolyPhen 2 Score 0.865 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104568
Gene: ENSMUSG00000094786
AA Change: N111S

Domain	Start	End	E-Value	Type
internal_repeat_1	1	73	1.34e-11	PROSPERO
internal_repeat_1	169	241	1.34e-11	PROSPERO

Predicted Effect

silent
Transcript: ENSMUST00000108947

SMART Domains

Protein: ENSMUSP00000104575
Gene: ENSMUSG00000094786

Domain	Start	End	E-Value	Type
KRAB	4	66	4.86e-13	SMART
ZnF_C2H2	76	97	2.31e2	SMART
ZnF_C2H2	103	125	1.2e-3	SMART
ZnF_C2H2	131	153	1.18e-2	SMART
ZnF_C2H2	159	179	4.57e0	SMART
ZnF_C2H2	187	209	5.59e-4	SMART
ZnF_C2H2	215	237	1.12e-3	SMART
ZnF_C2H2	243	265	1.18e-2	SMART
ZnF_C2H2	271	293	8.6e-5	SMART
ZnF_C2H2	299	321	3.16e-3	SMART
ZnF_C2H2	327	349	1.84e-4	SMART
ZnF_C2H2	355	377	3.44e-4	SMART

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (66/66)

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Calm3	A	T	7: 16,651,004 (GRCm39)	Y139*	probably null	Het
Ccdc27	T	C	4: 154,112,523 (GRCm39)	N584S	probably benign	Het
Cdh24	C	G	14: 54,876,964 (GRCm39)	G13A	probably damaging	Het
Chd8	T	C	14: 52,452,677 (GRCm39)	K1281E	probably damaging	Het
Clasp1	G	T	1: 118,409,816 (GRCm39)	G4C	probably benign	Het
Cul9	G	T	17: 46,811,765 (GRCm39)	P2488T	probably damaging	Het
Daam2	A	G	17: 49,789,973 (GRCm39)	V428A	probably damaging	Het
Dcaf8	A	G	1: 172,016,535 (GRCm39)	S441G	probably damaging	Het
Dchs2	A	G	3: 83,255,581 (GRCm39)	T2426A	probably benign	Het
Dnai3	C	A	3: 145,746,582 (GRCm39)	K881N	possibly damaging	Het
Dpys	A	G	15: 39,690,279 (GRCm39)	V358A	probably damaging	Het
Efhd1	A	G	1: 87,217,219 (GRCm39)	D112G	probably damaging	Het
Exoc1	T	C	5: 76,714,800 (GRCm39)	S120P	unknown	Het
Fyco1	A	G	9: 123,626,784 (GRCm39)	L1309S	probably damaging	Het
Gm5901	A	G	7: 105,026,555 (GRCm39)	T108A	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Itgb5	T	G	16: 33,705,464 (GRCm39)	D251E	probably damaging	Het
Kcnk15	T	C	2: 163,700,637 (GRCm39)	V292A	probably benign	Het
Kdm2a	A	T	19: 4,369,169 (GRCm39)	Y1149N	probably damaging	Het
Kdm3a	T	C	6: 71,572,529 (GRCm39)	T1011A	possibly damaging	Het
Krt35	A	T	11: 99,986,498 (GRCm39)		probably null	Het
Lipn	T	A	19: 34,049,180 (GRCm39)	D115E	possibly damaging	Het
Lpin3	T	G	2: 160,738,672 (GRCm39)	L208R	probably damaging	Het
Ltf	C	A	9: 110,855,048 (GRCm39)	Q354K	probably benign	Het
Marf1	C	A	16: 13,929,566 (GRCm39)	C1680F	possibly damaging	Het
Mtss2	T	A	8: 111,456,656 (GRCm39)	V242E	probably damaging	Het
Myo7b	T	C	18: 32,131,765 (GRCm39)	Y477C	probably damaging	Het
Nbn	T	A	4: 15,981,350 (GRCm39)	S481T	probably benign	Het
Ncoa2	A	G	1: 13,257,062 (GRCm39)	Y146H	probably damaging	Het
Ntng1	A	T	3: 109,842,496 (GRCm39)	C92*	probably null	Het
Or10ad1b	C	T	15: 98,125,083 (GRCm39)	V150I	probably benign	Het
Or2n1b	G	A	17: 38,460,385 (GRCm39)	G302D	probably benign	Het
Or8k18	T	A	2: 86,085,420 (GRCm39)	N206Y	probably damaging	Het
Or8k31-ps1	T	C	2: 86,356,471 (GRCm39)	I17V	probably benign	Het
Os9	A	T	10: 126,935,547 (GRCm39)	S308T	probably benign	Het
Otx2	T	A	14: 48,896,192 (GRCm39)	T289S	probably benign	Het
Pakap	C	T	4: 57,648,042 (GRCm39)	A60V	probably benign	Het
Pigg	A	G	5: 108,484,378 (GRCm39)	T675A	possibly damaging	Het
Pink1	C	T	4: 138,042,912 (GRCm39)	E461K	probably damaging	Het
Pip5k1a	A	G	3: 94,967,809 (GRCm39)	S543P	possibly damaging	Het
Prkaa1	A	G	15: 5,206,611 (GRCm39)	T454A	probably benign	Het
Ptk2	G	A	15: 73,093,658 (GRCm39)	P854S	possibly damaging	Het
Rab31	C	T	17: 66,005,012 (GRCm39)	V83I	possibly damaging	Het
Rabggtb	G	T	3: 153,615,986 (GRCm39)	D117E	probably benign	Het
Rbl1	T	C	2: 156,994,820 (GRCm39)	H951R	probably benign	Het
Sapcd2	A	G	2: 25,266,091 (GRCm39)	S314G	probably benign	Het
Septin4	T	C	11: 87,475,264 (GRCm39)	L164P	probably damaging	Het
Shroom1	A	G	11: 53,356,760 (GRCm39)	E541G	probably damaging	Het
Slc26a7	C	A	4: 14,565,460 (GRCm39)	G208*	probably null	Het
Smco2	A	G	6: 146,772,711 (GRCm39)	I304M	probably damaging	Het
Spg7	T	C	8: 123,818,491 (GRCm39)		probably null	Het
Spocd1	T	C	4: 129,847,691 (GRCm39)	F552L		Het
St6galnac2	T	C	11: 116,568,461 (GRCm39)	D334G	probably damaging	Het
Sub1	A	G	15: 11,986,572 (GRCm39)	S92P	probably benign	Het
Syne2	T	C	12: 75,989,125 (GRCm39)	F1829L	probably benign	Het
Tdrd1	T	C	19: 56,839,833 (GRCm39)	V631A	probably benign	Het
Tdrd9	T	C	12: 111,958,904 (GRCm39)	S113P	probably benign	Het
Tgfbrap1	A	C	1: 43,110,725 (GRCm39)	V260G	probably damaging	Het
Tyw3	G	C	3: 154,299,426 (GRCm39)	S94R	probably benign	Het
Urb2	T	C	8: 124,757,338 (GRCm39)	V1015A	probably benign	Het
Usp5	A	G	6: 124,806,357 (GRCm39)	M1T	probably null	Het
Utrn	T	C	10: 12,560,260 (GRCm39)	D1343G	possibly damaging	Het
Vmn2r56	T	C	7: 12,449,254 (GRCm39)	Y328C	probably damaging	Het
Vmn2r99	A	T	17: 19,613,972 (GRCm39)	E564V	possibly damaging	Het
Zc3h8	T	C	2: 128,777,241 (GRCm39)	T133A	possibly damaging	Het

Other mutations in Gm14403

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01835:Gm14403	APN	2	177,199,049 (GRCm39)	missense	probably damaging	0.99
IGL02660:Gm14403	APN	2	177,201,257 (GRCm39)	missense	probably damaging	1.00
R0492:Gm14403	UTSW	2	177,200,359 (GRCm39)	missense	probably benign	0.09
R0932:Gm14403	UTSW	2	177,198,810 (GRCm39)	missense	probably benign	0.01
R0975:Gm14403	UTSW	2	177,201,217 (GRCm39)	missense	probably damaging	1.00
R1468:Gm14403	UTSW	2	177,199,024 (GRCm39)	splice site	probably benign
R1853:Gm14403	UTSW	2	177,200,932 (GRCm39)	missense	probably damaging	1.00
R3011:Gm14403	UTSW	2	177,200,786 (GRCm39)	missense	probably benign
R3803:Gm14403	UTSW	2	177,200,569 (GRCm39)	missense	probably benign	0.04
R4589:Gm14403	UTSW	2	177,200,428 (GRCm39)	missense	probably benign	0.29
R4805:Gm14403	UTSW	2	177,200,492 (GRCm39)	missense	probably damaging	0.97
R5085:Gm14403	UTSW	2	177,200,282 (GRCm39)	missense	probably benign	0.04
R5311:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R5425:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R5643:Gm14403	UTSW	2	177,199,054 (GRCm39)	missense	possibly damaging	0.87
R5644:Gm14403	UTSW	2	177,199,054 (GRCm39)	missense	possibly damaging	0.87
R5739:Gm14403	UTSW	2	177,201,040 (GRCm39)	missense	probably damaging	1.00
R5982:Gm14403	UTSW	2	177,200,345 (GRCm39)	missense	probably damaging	0.98
R6197:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R6198:Gm14403	UTSW	2	177,201,448 (GRCm39)	unclassified	probably benign
R6892:Gm14403	UTSW	2	177,201,040 (GRCm39)	missense	probably damaging	1.00
R7168:Gm14403	UTSW	2	177,201,318 (GRCm39)	missense	probably damaging	0.96
R7510:Gm14403	UTSW	2	177,200,403 (GRCm39)	missense	probably benign	0.01
R7623:Gm14403	UTSW	2	177,200,405 (GRCm39)	missense	probably benign
R8049:Gm14403	UTSW	2	177,200,311 (GRCm39)	missense	probably benign	0.00
R8557:Gm14403	UTSW	2	177,201,354 (GRCm39)	missense	probably damaging	0.99
R9224:Gm14403	UTSW	2	177,200,336 (GRCm39)	missense	probably benign
R9333:Gm14403	UTSW	2	177,200,919 (GRCm39)	missense	probably benign	0.42
R9632:Gm14403	UTSW	2	177,201,421 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TTGCAAGCAGTAGTGACCTCG -3'
(R):5'- TCACTCCTTCCTGCAAAGGC -3'

Sequencing Primer
(F):5'- GCAGTAGTGACCTCGAAAAAC -3'
(R):5'- TCAAAGGGTTTACCACCTTGG -3'

Posted On

2019-05-15