Mutagenetix > Incidental Mutation

Incidental Mutation 'R8209:Gm14295'

636049

Institutional Source

Beutler Lab

Gene Symbol

Gm14295

Ensembl Gene

ENSMUSG00000078877

Gene Name

predicted gene 14295

Synonyms

MMRRC Submission

067632-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.109) question?

Stock #

R8209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

176490405-176503016 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 176502970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Lysine at position 820 (I820K)

Ref Sequence

ENSEMBL: ENSMUSP00000119262 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000118012] [ENSMUST00000132883] [ENSMUST00000179435]

AlphaFold

A2BG91

Predicted Effect

probably benign
Transcript: ENSMUST00000118012

SMART Domains

Protein: ENSMUSP00000113133
Gene: ENSMUSG00000078877

Domain	Start	End	E-Value	Type
KRAB	4	64	5.2e-13	SMART

Predicted Effect

unknown
Transcript: ENSMUST00000132883
AA Change: I820K

SMART Domains

Protein: ENSMUSP00000119262
Gene: ENSMUSG00000078877
AA Change: I820K

Domain	Start	End	E-Value	Type
KRAB	4	66	6.97e-14	SMART
ZnF_C2H2	78	97	1.61e2	SMART
ZnF_C2H2	103	125	4.17e-3	SMART
ZnF_C2H2	131	153	1.67e-2	SMART
ZnF_C2H2	159	181	2.27e-4	SMART
ZnF_C2H2	187	209	2.61e-4	SMART
ZnF_C2H2	215	237	5.5e-3	SMART
ZnF_C2H2	243	265	2.4e-3	SMART
ZnF_C2H2	271	293	6.32e-3	SMART
ZnF_C2H2	299	321	4.17e-3	SMART
ZnF_C2H2	327	349	3.21e-4	SMART
ZnF_C2H2	355	377	6.88e-4	SMART
ZnF_C2H2	383	405	9.22e-5	SMART
ZnF_C2H2	411	433	6.88e-4	SMART
ZnF_C2H2	439	461	9.22e-5	SMART
ZnF_C2H2	467	489	1.67e-2	SMART
ZnF_C2H2	495	517	3.16e-3	SMART
ZnF_C2H2	523	545	1.3e-4	SMART
ZnF_C2H2	551	573	1.67e-2	SMART
ZnF_C2H2	579	601	3.16e-3	SMART
ZnF_C2H2	607	629	6.78e-3	SMART
ZnF_C2H2	635	657	4.54e-4	SMART
ZnF_C2H2	663	685	4.54e-4	SMART
ZnF_C2H2	691	713	1.67e-2	SMART
ZnF_C2H2	719	741	3.16e-3	SMART
ZnF_C2H2	747	769	1.38e-3	SMART
ZnF_C2H2	775	797	4.94e-5	SMART
ZnF_C2H2	803	823	8.75e0	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000179435

SMART Domains

Protein: ENSMUSP00000136320
Gene: ENSMUSG00000078877

Domain	Start	End	E-Value	Type
KRAB	3	63	5.2e-13	SMART

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9330159F19Rik	A	G	10: 29,094,195 (GRCm39)	N27S	probably damaging	Het
Akr1b1	G	C	6: 34,288,867 (GRCm39)	T114R	probably damaging	Het
Alx4	T	C	2: 93,505,696 (GRCm39)	M266T	possibly damaging	Het
Arhgap21	C	T	2: 20,876,556 (GRCm39)	D820N	probably damaging	Het
Clec4a1	A	G	6: 122,907,773 (GRCm39)	S154G	probably damaging	Het
Col11a2	T	C	17: 34,266,253 (GRCm39)		probably null	Het
Dnaaf2	A	T	12: 69,244,866 (GRCm39)	V65E	probably damaging	Het
Dnah14	A	G	1: 181,623,110 (GRCm39)	E3996G	possibly damaging	Het
Dsg1b	A	G	18: 20,541,947 (GRCm39)	Y818C	probably benign	Het
Dzip3	C	T	16: 48,798,307 (GRCm39)	G133S	probably damaging	Het
Efcab6	T	C	15: 83,788,456 (GRCm39)	Y946C	probably benign	Het
Eprs1	A	G	1: 185,139,812 (GRCm39)	E967G	possibly damaging	Het
F5	T	C	1: 164,021,959 (GRCm39)	V1478A	probably benign	Het
Fchsd2	C	T	7: 100,931,679 (GRCm39)	P745L	probably damaging	Het
Gart	T	C	16: 91,425,041 (GRCm39)	I661V	possibly damaging	Het
Grb10	G	T	11: 11,901,533 (GRCm39)	L214M	probably damaging	Het
Gria2	A	G	3: 80,616,764 (GRCm39)	V396A	probably benign	Het
Il17rc	C	A	6: 113,449,771 (GRCm39)	Q126K	probably benign	Het
Ipo8	A	G	6: 148,698,176 (GRCm39)	I615T	possibly damaging	Het
Irak4	T	A	15: 94,456,244 (GRCm39)	L277Q	probably damaging	Het
Islr	T	C	9: 58,065,340 (GRCm39)	S56G	probably damaging	Het
Krt78	A	T	15: 101,855,480 (GRCm39)	M777K	possibly damaging	Het
Lrch4	A	G	5: 137,637,997 (GRCm39)	H93R		Het
Muc21	T	C	17: 35,930,599 (GRCm39)		probably benign	Het
Nbeal1	A	T	1: 60,316,336 (GRCm39)	K1846N	probably damaging	Het
Nedd1	T	A	10: 92,527,797 (GRCm39)	M466L	probably benign	Het
Nup107	T	C	10: 117,593,836 (GRCm39)	K786E	probably benign	Het
Or51f23b	T	C	7: 102,402,950 (GRCm39)	Y62C	probably benign	Het
Or5ak25	T	A	2: 85,268,981 (GRCm39)	I174F	probably damaging	Het
Or5m12	T	C	2: 85,734,547 (GRCm39)	I284V	probably benign	Het
Phc2	T	C	4: 128,603,299 (GRCm39)	L143P	probably benign	Het
Pkhd1l1	A	G	15: 44,437,803 (GRCm39)	N3533D	possibly damaging	Het
Plpp1	A	T	13: 113,003,465 (GRCm39)	T230S	probably benign	Het
Prokr2	C	A	2: 132,215,961 (GRCm39)	A167S	probably damaging	Het
Qser1	C	T	2: 104,619,070 (GRCm39)	A491T	probably benign	Het
Rc3h2	T	A	2: 37,267,001 (GRCm39)	Y1040F	possibly damaging	Het
Rgl2	C	T	17: 34,151,501 (GRCm39)	L182F	possibly damaging	Het
Rnf130	T	C	11: 49,962,097 (GRCm39)	V181A	probably benign	Het
Scn7a	T	G	2: 66,531,204 (GRCm39)	I558L	possibly damaging	Het
Shtn1	T	C	19: 58,992,328 (GRCm39)	I417V	possibly damaging	Het
Slco1a5	T	G	6: 142,208,408 (GRCm39)	N128H	probably damaging	Het
Smg5	C	T	3: 88,258,838 (GRCm39)	A603V	probably benign	Het
Svs3b	T	A	2: 164,098,140 (GRCm39)	E60D	possibly damaging	Het
Thap1	CAGCATCTGCTCGGAGCA	CAGCA	8: 26,650,884 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,844 (GRCm39)	M263K	probably benign	Het
Tmem150b	A	G	7: 4,723,691 (GRCm39)	L162P	probably damaging	Het
Tmprss11f	A	G	5: 86,687,566 (GRCm39)	V114A	probably damaging	Het
Trak1	C	T	9: 121,280,793 (GRCm39)	T394I	probably benign	Het
Tram2	A	C	1: 21,075,801 (GRCm39)	Y206D	probably damaging	Het
Trhde	C	T	10: 114,403,133 (GRCm39)	V497M	probably damaging	Het
Trpc2	A	G	7: 101,737,482 (GRCm39)	M425V	possibly damaging	Het
Tuba1b	C	T	15: 98,829,591 (GRCm39)	G410S	probably benign	Het
Vmn2r1	A	G	3: 63,997,199 (GRCm39)	D285G	possibly damaging	Het
Zfp536	A	T	7: 37,268,080 (GRCm39)	S445R	probably benign	Het
Zfp606	A	T	7: 12,227,234 (GRCm39)	T452S	probably benign	Het

Other mutations in Gm14295

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1623:Gm14295	UTSW	2	176,499,157 (GRCm39)	missense	probably damaging	1.00
R2061:Gm14295	UTSW	2	176,502,474 (GRCm39)	nonsense	probably null
R2172:Gm14295	UTSW	2	176,502,895 (GRCm39)	missense	possibly damaging	0.48
R2411:Gm14295	UTSW	2	176,499,206 (GRCm39)	missense	probably benign	0.29
R4472:Gm14295	UTSW	2	176,501,386 (GRCm39)	missense	possibly damaging	0.71
R4949:Gm14295	UTSW	2	176,501,469 (GRCm39)	missense	probably damaging	0.99
R5082:Gm14295	UTSW	2	176,499,210 (GRCm39)	nonsense	probably null
R5311:Gm14295	UTSW	2	176,502,465 (GRCm39)	missense	probably benign	0.00
R5792:Gm14295	UTSW	2	176,502,807 (GRCm39)	missense	probably benign	0.10
R6170:Gm14295	UTSW	2	176,502,937 (GRCm39)	unclassified	probably benign
R6267:Gm14295	UTSW	2	176,500,782 (GRCm39)	nonsense	probably null
R6286:Gm14295	UTSW	2	176,501,361 (GRCm39)	missense	possibly damaging	0.52
R6743:Gm14295	UTSW	2	176,502,420 (GRCm39)	missense	probably damaging	1.00
R7456:Gm14295	UTSW	2	176,500,943 (GRCm39)	missense	possibly damaging	0.95
R7536:Gm14295	UTSW	2	176,502,722 (GRCm39)	missense	possibly damaging	0.74
R8049:Gm14295	UTSW	2	176,500,871 (GRCm39)	missense	probably benign	0.03
R8126:Gm14295	UTSW	2	176,502,658 (GRCm39)	missense	probably benign	0.04
R8292:Gm14295	UTSW	2	176,501,351 (GRCm39)	missense	probably damaging	0.99
R8356:Gm14295	UTSW	2	176,501,307 (GRCm39)	missense	probably benign	0.24
R8412:Gm14295	UTSW	2	176,501,422 (GRCm39)	missense	probably damaging	1.00
R8993:Gm14295	UTSW	2	176,501,623 (GRCm39)	missense	possibly damaging	0.48
R9459:Gm14295	UTSW	2	176,499,165 (GRCm39)	missense	possibly damaging	0.88
R9562:Gm14295	UTSW	2	176,499,162 (GRCm39)	missense	probably benign	0.34
R9565:Gm14295	UTSW	2	176,499,162 (GRCm39)	missense	probably benign	0.34

Predicted Primers

PCR Primer
(F):5'- GGTAAAACCTTTGCAGAAAGCAGTAC -3'
(R):5'- TCACTCCTTCCTGCAAAGAC -3'

Sequencing Primer
(F):5'- GCAGAAAGCAGTACTCTCCAAATC -3'
(R):5'- TCCTGCAAAGACTTTACCACATTGG -3'

Posted On

2020-07-13