Mutagenetix > Incidental Mutation

Incidental Mutation 'R8557:Gm14403'

660138

Institutional Source

Beutler Lab

Gene Symbol

Gm14403

Ensembl Gene

ENSMUSG00000094786

Gene Name

predicted gene 14403

Synonyms

MMRRC Submission

068520-MU

Accession Numbers

Essential gene?

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

Stock #

R8557 (G1)

Quality Score

165.009

Status

Validated

Chromosome

Chromosomal Location

177190008-177201556 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 177201354 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 191 (I191T)

Ref Sequence

ENSEMBL: ENSMUSP00000104568 (fasta)

Gene Model

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

AlphaFold

A2BFU4

Predicted Effect

probably damaging
Transcript: ENSMUST00000108940
AA Change: I191T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104568
Gene: ENSMUSG00000094786
AA Change: I191T

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

probably benign
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: 99.8%
20x: 99.3%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610040J01Rik	T	C	5: 64,055,954 (GRCm39)	V230A	probably benign	Het
Ablim2	A	T	5: 35,985,483 (GRCm39)	H260L	probably damaging	Het
Acp4	C	T	7: 43,905,272 (GRCm39)		probably null	Het
Acvr2b	G	T	9: 119,261,654 (GRCm39)	V416L	probably damaging	Het
Adipoq	A	T	16: 22,965,430 (GRCm39)		probably benign	Het
Amhr2	A	G	15: 102,362,847 (GRCm39)	Q538R	probably benign	Het
Apoh	C	T	11: 108,300,062 (GRCm39)	T237I	probably damaging	Het
Aspm	C	T	1: 139,384,494 (GRCm39)	T97I	probably benign	Het
Atg16l2	A	T	7: 100,939,863 (GRCm39)	H499Q	probably benign	Het
Bicdl2	G	A	17: 23,886,536 (GRCm39)	R375H	probably benign	Het
C3	T	C	17: 57,531,383 (GRCm39)	T304A	probably benign	Het
Cast	A	T	13: 74,852,301 (GRCm39)	D647E	probably damaging	Het
Chrm2	T	C	6: 36,501,010 (GRCm39)	V289A	probably benign	Het
Clock	T	C	5: 76,377,217 (GRCm39)	D694G	probably damaging	Het
Cyp4a31	C	T	4: 115,427,438 (GRCm39)	R215C	possibly damaging	Het
Dctn2	T	C	10: 127,114,062 (GRCm39)	L334P	probably damaging	Het
Dnah11	A	G	12: 117,842,247 (GRCm39)	I4444T	probably benign	Het
Egf	C	A	3: 129,548,600 (GRCm39)	R5L	unknown	Het
Ercc1	A	G	7: 19,082,480 (GRCm39)	N11S	probably benign	Het
Eri3	T	C	4: 117,472,520 (GRCm39)	S113P	possibly damaging	Het
Fasn	A	G	11: 120,706,610 (GRCm39)	V958A	probably benign	Het
Fgf10	A	G	13: 118,918,132 (GRCm39)	K140R	probably benign	Het
Gfra2	G	A	14: 71,214,737 (GRCm39)	M163I	probably benign	Het
Hdlbp	T	A	1: 93,341,219 (GRCm39)	E977D	probably damaging	Het
Hectd4	A	G	5: 121,448,714 (GRCm39)	N354S	possibly damaging	Het
Hpgds	A	T	6: 65,096,999 (GRCm39)	I170N	probably benign	Het
Limk2	A	G	11: 3,296,379 (GRCm39)	V356A	possibly damaging	Het
Map4	A	G	9: 109,893,370 (GRCm39)		probably null	Het
Mettl13	C	T	1: 162,371,921 (GRCm39)	G316D	possibly damaging	Het
Mia2	T	A	12: 59,148,274 (GRCm39)	L45I	probably damaging	Het
Mier1	T	A	4: 102,996,543 (GRCm39)		probably null	Het
Mob3a	G	T	10: 80,527,008 (GRCm39)	R106S	probably benign	Het
Mug2	T	A	6: 122,040,660 (GRCm39)	F737I	probably damaging	Het
Myo7a	C	T	7: 97,703,081 (GRCm39)	A2053T	probably benign	Het
Myrip	A	G	9: 120,246,252 (GRCm39)	S127G	probably benign	Het
Naaladl2	T	A	3: 24,262,528 (GRCm39)	K395I	probably benign	Het
Nedd4l	A	T	18: 65,336,986 (GRCm39)	M678L	probably benign	Het
Nefh	A	T	11: 4,891,233 (GRCm39)	I462N	probably damaging	Het
Nfe2	A	G	15: 103,157,025 (GRCm39)	M322T	probably benign	Het
Ogfr	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	GGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGAGCCAGAGGACCCCAAAAGCCAGGTGGGGCCAGAGGACCCCCAAAGCCAGGTGG	2: 180,237,059 (GRCm39)		probably benign	Het
Or2z2	T	A	11: 58,346,562 (GRCm39)	D71V	probably damaging	Het
Or56b1	T	A	7: 104,285,103 (GRCm39)	V74E	possibly damaging	Het
Pkdcc	A	G	17: 83,528,495 (GRCm39)	N288S	probably benign	Het
Sacs	G	A	14: 61,444,725 (GRCm39)	C2257Y	probably damaging	Het
Sec23a	G	T	12: 59,052,056 (GRCm39)	Q90K	probably damaging	Het
Shisal2a	T	A	4: 108,225,085 (GRCm39)	N159I	probably benign	Het
Slc30a6	A	G	17: 74,712,685 (GRCm39)	T61A	possibly damaging	Het
Slc39a11	C	A	11: 113,141,385 (GRCm39)	A234S	probably damaging	Het
Smg6	C	A	11: 75,047,064 (GRCm39)	N1252K	probably damaging	Het
Spata2	A	T	2: 167,326,227 (GRCm39)	D197E	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Spocd1	T	C	4: 129,842,761 (GRCm39)	F59L	probably damaging	Het
Tectb	T	A	19: 55,181,105 (GRCm39)		probably benign	Het
Tnnc1	G	A	14: 30,932,562 (GRCm39)	V82I	probably damaging	Het
Traf7	A	T	17: 24,729,015 (GRCm39)	V513D	probably damaging	Het
Tut4	T	A	4: 108,399,908 (GRCm39)		probably null	Het
Vmn2r111	A	T	17: 22,790,910 (GRCm39)	Y129*	probably null	Het
Vrtn	T	A	12: 84,696,690 (GRCm39)	F480Y	probably benign	Het
Vwa8	A	T	14: 79,246,649 (GRCm39)	I664F	probably damaging	Het
Vwde	A	T	6: 13,193,136 (GRCm39)	V401E	probably damaging	Het
Zfp655	A	T	5: 145,180,835 (GRCm39)	N231I	probably benign	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
R7090:Gm14403	UTSW	2	177,201,114 (GRCm39)	missense	possibly damaging	0.87
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
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'- AGCAGTTCTCTCCGAATCCA -3'
(R):5'- TCATGATATTGTTGATGACTGCTTT -3'

Sequencing Primer
(F):5'- AGTTCTCTCCGAATCCATAAGCG -3'
(R):5'- GCAGATCAATGCTTGCTGC -3'

Posted On

2021-01-18