Mutagenetix > Incidental Mutation

Incidental Mutation 'R6218:Gm14548'

503839

Institutional Source

Beutler Lab

Gene Symbol

Gm14548

Ensembl Gene

ENSMUSG00000074417

Gene Name

predicted gene 14548

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.049) question?

Stock #

R6218 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

3884242-3898120 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 3894032 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 602 (S602T)

Ref Sequence

ENSEMBL: ENSMUSP00000070073 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000070639]

AlphaFold

E9Q1Z6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000070639
AA Change: S602T

PolyPhen 2 Score 0.650 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000070073
Gene: ENSMUSG00000074417
AA Change: S602T

Domain	Start	End	E-Value	Type
IG	34	118	6.41e-2	SMART
IG	129	315	8.59e-3	SMART
IG_like	237	302	1.91e-1	SMART
IG	328	415	3.36e0	SMART
IG_like	435	502	3.11e0	SMART
IG	529	618	8.59e-3	SMART
low complexity region	627	636	N/A	INTRINSIC
low complexity region	654	663	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.5%

Validation Efficiency

100% (65/65)

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	G	T	11: 99,837,904	Q38K	probably benign	Het
9930111J21Rik2	A	T	11: 49,019,307	N766K	probably benign	Het
Adam15	A	C	3: 89,343,883	I505S	probably benign	Het
Apc2	T	C	10: 80,306,420	M391T	probably damaging	Het
Arsi	G	A	18: 60,916,651	G202E	probably benign	Het
Bclaf1	A	G	10: 20,334,628	S840G	probably benign	Het
Cacna2d4	A	G	6: 119,239,060	Y96C	probably damaging	Het
Cald1	CAAAA	CAAA	6: 34,747,928		probably null	Het
Ddhd1	A	G	14: 45,614,176	L141P	probably damaging	Het
Dnaaf3	A	T	7: 4,523,672	S469T	probably benign	Het
Dzip3	A	T	16: 48,958,465	M323K	possibly damaging	Het
E430018J23Rik	C	T	7: 127,393,409	A10T	possibly damaging	Het
Eci2	T	A	13: 34,993,065		probably null	Het
Fam109b	T	A	15: 82,343,716	H145Q	probably benign	Het
Fam227b	A	T	2: 126,126,962	V64E	probably damaging	Het
Galnt2	A	G	8: 124,343,315	I524V	probably benign	Het
Gm10549	C	A	18: 33,464,305		probably benign	Het
Gm3443	T	A	19: 21,555,746	S25T	probably damaging	Het
Gpr22	T	A	12: 31,711,617	K14*	probably null	Het
Grip1	T	C	10: 119,986,346	S405P	possibly damaging	Het
Helz2	C	A	2: 181,232,294	V2136L	probably benign	Het
Helz2	T	C	2: 181,235,945	H1020R	probably damaging	Het
Il1f5	G	A	2: 24,277,490		probably benign	Het
Iqsec1	T	A	6: 90,689,635	S607C	probably damaging	Het
Klhl2	A	T	8: 64,752,767	Y373*	probably null	Het
L3mbtl3	T	C	10: 26,292,747	I595V	unknown	Het
Large2	T	C	2: 92,370,636	D65G	probably damaging	Het
Lrrfip1	T	C	1: 91,082,159	Y122H	probably damaging	Het
Map1b	A	T	13: 99,433,206	D1002E	unknown	Het
Mink1	C	T	11: 70,598,894	T59I	possibly damaging	Het
Mrvi1	G	A	7: 110,876,905	T819M	probably benign	Het
Myo7b	T	C	18: 31,959,454	N2097D	probably benign	Het
Nbea	C	A	3: 55,628,484	C2893F	probably damaging	Het
Nlgn1	A	T	3: 25,436,093	V490E	probably damaging	Het
Olfr1230	G	T	2: 89,296,962	H103N	probably damaging	Het
Olfr131	A	G	17: 38,082,729	M83T	probably damaging	Het
Olfr1318	T	C	2: 112,156,356	I135T	probably damaging	Het
Olfr1369-ps1	G	A	13: 21,116,231	E180K	probably damaging	Het
Olfr730	C	A	14: 50,186,678	D180Y	probably damaging	Het
Pctp	A	G	11: 89,987,318	I130T	probably benign	Het
Pdcl3	T	C	1: 38,988,071		probably null	Het
Pkp1	T	C	1: 135,879,908	K541E	probably damaging	Het
Plekhh2	G	A	17: 84,591,564	V990I	probably benign	Het
Ppp1r3a	A	T	6: 14,718,431	V828D	probably damaging	Het
Prrc2b	T	C	2: 32,208,811	Y712H	probably damaging	Het
Prune2	T	C	19: 17,121,562	S1477P	probably benign	Het
Psma5	A	G	3: 108,279,802	K239R	probably benign	Het
Rhobtb1	G	C	10: 69,270,456	A284P	probably benign	Het
Samsn1	G	A	16: 75,945,274		noncoding transcript	Het
Scel	A	G	14: 103,572,042	T273A	probably benign	Het
Slc22a5	T	A	11: 53,891,618		probably benign	Het
Slc25a37	A	T	14: 69,249,504	M110K	possibly damaging	Het
Slc6a2	A	T	8: 92,981,981	M242L	probably benign	Het
Slc8a3	C	A	12: 81,199,567	W904L	probably benign	Het
Ss18l1	G	A	2: 180,055,112	V109I	probably benign	Het
Tbx5	C	T	5: 119,853,598	H245Y	probably damaging	Het
Thumpd2	C	A	17: 81,052,913	L244F	probably damaging	Het
Tmem107	T	A	11: 69,071,415	V66E	probably damaging	Het
Tnr	T	C	1: 159,888,314	V882A	possibly damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Ttbk1	A	G	17: 46,470,807	V340A	possibly damaging	Het
Veph1	T	C	3: 66,255,060	E59G	probably damaging	Het
Vmn1r234	T	A	17: 21,229,721	M299K	possibly damaging	Het
Vps13b	T	C	15: 35,770,464	Y2018H	probably benign	Het
Zbtb11	A	G	16: 55,998,073	E620G	probably benign	Het
Zfp418	A	G	7: 7,182,628	H530R	possibly damaging	Het

Other mutations in Gm14548

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00541:Gm14548	APN	7	3897386	splice site	probably benign
IGL01358:Gm14548	APN	7	3895687	missense	probably benign	0.41
IGL01868:Gm14548	APN	7	3897175	nonsense	probably null
IGL02421:Gm14548	APN	7	3896995	missense	possibly damaging	0.87
IGL02544:Gm14548	APN	7	3897186	missense	probably damaging	0.96
IGL02960:Gm14548	APN	7	3897079	missense	possibly damaging	0.88
IGL02973:Gm14548	APN	7	3897240	missense	probably damaging	1.00
PIT4495001:Gm14548	UTSW	7	3897458	missense	probably damaging	1.00
R0761:Gm14548	UTSW	7	3893979	critical splice donor site	probably null
R1917:Gm14548	UTSW	7	3897638	missense	probably damaging	1.00
R1920:Gm14548	UTSW	7	3897872	missense	probably damaging	0.98
R2219:Gm14548	UTSW	7	3897489	missense	probably benign	0.10
R2220:Gm14548	UTSW	7	3897489	missense	probably benign	0.10
R4991:Gm14548	UTSW	7	3895572	missense	probably benign	0.37
R5271:Gm14548	UTSW	7	3897567	nonsense	probably null
R5909:Gm14548	UTSW	7	3897622	missense	probably damaging	1.00
R6008:Gm14548	UTSW	7	3894600	missense	probably damaging	1.00
R6193:Gm14548	UTSW	7	3898050	critical splice donor site	probably null
R6219:Gm14548	UTSW	7	3894641	missense	probably damaging	1.00
R6650:Gm14548	UTSW	7	3895633	missense	probably benign	0.15
R6879:Gm14548	UTSW	7	3896962	missense	probably benign	0.40
R6987:Gm14548	UTSW	7	3897661	missense	probably damaging	0.99
R7082:Gm14548	UTSW	7	3895511	missense	probably damaging	1.00
R7087:Gm14548	UTSW	7	3897219	missense	probably benign	0.08
R7144:Gm14548	UTSW	7	3897616	missense	probably damaging	1.00
R7298:Gm14548	UTSW	7	3895265	missense	possibly damaging	0.92
R7359:Gm14548	UTSW	7	3898104	start gained	probably benign
R7751:Gm14548	UTSW	7	3895604	missense	probably damaging	1.00
R7810:Gm14548	UTSW	7	3894205	missense	probably damaging	1.00
R8344:Gm14548	UTSW	7	3896955	missense	possibly damaging	0.93
R8428:Gm14548	UTSW	7	3895258	missense	probably benign	0.02
R8875:Gm14548	UTSW	7	3894257	missense	probably damaging	0.98
R8943:Gm14548	UTSW	7	3895366	missense	probably benign	0.11
R9045:Gm14548	UTSW	7	3894548	missense	possibly damaging	0.92
R9125:Gm14548	UTSW	7	3897022	missense	possibly damaging	0.62
R9129:Gm14548	UTSW	7	3895501	critical splice donor site	probably null
R9224:Gm14548	UTSW	7	3897235	missense	probably benign	0.13
R9427:Gm14548	UTSW	7	3894285	critical splice acceptor site	probably null
R9777:Gm14548	UTSW	7	3894613	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CAAACTTTATATGCCCCAGTACAG -3'
(R):5'- TGGTCAATGGACTCTGTGGATAC -3'

Sequencing Primer
(F):5'- CCAGTACAGGGGAACGCCAG -3'
(R):5'- ACTTTCATTCTGTCCAAGGAGGGATC -3'

Posted On

2018-02-27