Mutagenetix > Incidental Mutation

Incidental Mutation 'R1653:Gm12258'

188870

Institutional Source

Beutler Lab

Gene Symbol

Gm12258

Ensembl Gene

ENSMUSG00000072915

Gene Name

predicted gene 12258

Synonyms

MMRRC Submission

039689-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1653 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

58847158-58861956 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58858287 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 96 (I96T)

Ref Sequence

ENSEMBL: ENSMUSP00000117644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000093768] [ENSMUST00000139337]

AlphaFold

Q5NC63

Predicted Effect

probably benign
Transcript: ENSMUST00000093768

SMART Domains

Protein: ENSMUSP00000091282
Gene: ENSMUSG00000072915

Domain	Start	End	E-Value	Type
ZnF_C2H2	8	30	5.21e-4	SMART
ZnF_C2H2	36	58	1.03e-2	SMART
ZnF_C2H2	64	86	2.4e-3	SMART
ZnF_C2H2	92	114	4.17e-3	SMART
ZnF_C2H2	120	142	8.34e-3	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000139337
AA Change: I96T

PolyPhen 2 Score 0.682 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: I96T

Domain	Start	End	E-Value	Type
KRAB	56	116	1.8e-32	SMART

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.4%
20x: 92.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9130019O22Rik	G	T	7: 127,384,480 (GRCm38)	H483Q	possibly damaging	Het
Adam34	A	T	8: 43,650,645 (GRCm38)	C654*	probably null	Het
Adamts19	T	A	18: 58,890,293 (GRCm38)	N253K	probably benign	Het
Adgrb3	A	G	1: 25,101,503 (GRCm38)	L1162S	probably benign	Het
Ap2b1	T	A	11: 83,346,831 (GRCm38)	Y574N	probably damaging	Het
Atrn	A	G	2: 130,935,624 (GRCm38)	I198V	probably benign	Het
Bcan	T	A	3: 87,994,196 (GRCm38)	I400F	probably damaging	Het
Capn10	A	G	1: 92,946,898 (GRCm38)	Y617C	probably damaging	Het
Capn8	A	G	1: 182,623,951 (GRCm38)	N578D	probably benign	Het
Casd1	T	C	6: 4,624,134 (GRCm38)	L309P	probably benign	Het
Ccser1	T	A	6: 61,311,465 (GRCm38)	I204K	probably benign	Het
Cd276	T	C	9: 58,537,449 (GRCm38)	T80A	probably benign	Het
Cdh3	T	C	8: 106,539,068 (GRCm38)	S248P	probably damaging	Het
Celsr2	T	C	3: 108,413,520 (GRCm38)	T659A	possibly damaging	Het
Col6a4	C	T	9: 106,072,409 (GRCm38)	V676I	probably damaging	Het
Crmp1	T	A	5: 37,286,468 (GRCm38)	V575D	probably damaging	Het
Ep400	G	A	5: 110,693,174 (GRCm38)	Q1795*	probably null	Het
Gcnt3	A	G	9: 70,035,077 (GRCm38)	C70R	probably damaging	Het
Gpr183	A	G	14: 121,954,263 (GRCm38)	F282S	probably damaging	Het
Igfals	T	C	17: 24,881,078 (GRCm38)	V381A	probably benign	Het
Irs3	C	A	5: 137,644,521 (GRCm38)	L218F	probably damaging	Het
Kdm5b	T	C	1: 134,602,481 (GRCm38)	F410S	probably damaging	Het
Klc4	T	C	17: 46,631,859 (GRCm38)	Y593C	possibly damaging	Het
Lce1h	T	A	3: 92,763,443 (GRCm38)	Q134L	unknown	Het
Lyst	T	C	13: 13,635,226 (GRCm38)	S494P	probably damaging	Het
March3	A	G	18: 56,811,895 (GRCm38)	M42T	probably benign	Het
Myh7	A	G	14: 54,990,789 (GRCm38)	I250T	probably benign	Het
N4bp1	G	T	8: 86,844,948 (GRCm38)	H807Q	probably benign	Het
Ndn	C	T	7: 62,348,508 (GRCm38)	P34L	probably benign	Het
Nfs1	C	T	2: 156,125,336 (GRCm38)	G44D	probably damaging	Het
Nrg1	C	T	8: 31,818,653 (GRCm38)	R445H	probably damaging	Het
Olfr1507	A	T	14: 52,490,772 (GRCm38)	F64Y	probably damaging	Het
Olfr299	T	C	7: 86,466,212 (GRCm38)	V267A	probably benign	Het
Olfr683	T	A	7: 105,143,870 (GRCm38)	D141V	possibly damaging	Het
Pak7	C	T	2: 136,116,887 (GRCm38)	V94M	probably damaging	Het
Pdk1	G	A	2: 71,888,995 (GRCm38)		probably null	Het
Sin3b	G	T	8: 72,741,519 (GRCm38)	V290L	probably benign	Het
Sirt1	T	C	10: 63,321,809 (GRCm38)	T609A	probably benign	Het
Skint5	A	T	4: 113,490,678 (GRCm38)	S1289T	unknown	Het
Slc32a1	A	T	2: 158,614,889 (GRCm38)	H488L	probably benign	Het
Slc35b3	A	G	13: 38,955,798 (GRCm38)	S18P	probably benign	Het
Spaca7	T	A	8: 12,586,501 (GRCm38)	I109K	possibly damaging	Het
Tmem204	A	G	17: 25,080,527 (GRCm38)	L6P	possibly damaging	Het
Tubgcp6	G	A	15: 89,107,442 (GRCm38)	R651C	probably damaging	Het
Vps13b	T	A	15: 35,607,272 (GRCm38)	L1117*	probably null	Het
Wdcp	T	C	12: 4,851,815 (GRCm38)	L557P	probably damaging	Het
Wwp2	T	C	8: 107,483,410 (GRCm38)	F140S	possibly damaging	Het
Zfp429	C	T	13: 67,389,924 (GRCm38)	R467H	possibly damaging	Het
Zfp839	T	A	12: 110,855,250 (GRCm38)	M166K	probably benign	Het
Zfyve9	G	A	4: 108,660,577 (GRCm38)	Q1106*	probably null	Het
Zrsr1	T	A	11: 22,974,158 (GRCm38)	C311S	probably damaging	Het

Other mutations in Gm12258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Gm12258	APN	11	58,856,070 (GRCm38)	missense	probably benign
IGL01391:Gm12258	APN	11	58,848,694 (GRCm38)	missense	probably benign	0.03
IGL03081:Gm12258	APN	11	58,858,259 (GRCm38)	missense	probably benign	0.07
R1521:Gm12258	UTSW	11	58,859,555 (GRCm38)	missense	probably damaging	1.00
R3895:Gm12258	UTSW	11	58,858,549 (GRCm38)	nonsense	probably null
R4065:Gm12258	UTSW	11	58,858,526 (GRCm38)	missense	probably benign	0.08
R4066:Gm12258	UTSW	11	58,858,526 (GRCm38)	missense	probably benign	0.08
R4747:Gm12258	UTSW	11	58,859,596 (GRCm38)	missense	probably damaging	1.00
R4803:Gm12258	UTSW	11	58,859,030 (GRCm38)	missense	probably benign	0.06
R5554:Gm12258	UTSW	11	58,858,468 (GRCm38)	missense	possibly damaging	0.92
R5896:Gm12258	UTSW	11	58,859,631 (GRCm38)	missense	probably damaging	1.00
R5956:Gm12258	UTSW	11	58,859,459 (GRCm38)	missense	probably benign	0.02
R6277:Gm12258	UTSW	11	58,854,287 (GRCm38)	missense	probably damaging	1.00
R7166:Gm12258	UTSW	11	58,858,473 (GRCm38)	missense
R7728:Gm12258	UTSW	11	58,859,692 (GRCm38)	missense	unknown
R8161:Gm12258	UTSW	11	58,859,312 (GRCm38)	missense	unknown
R8268:Gm12258	UTSW	11	58,854,258 (GRCm38)	critical splice acceptor site	probably null
R8491:Gm12258	UTSW	11	58,854,296 (GRCm38)	missense
R8878:Gm12258	UTSW	11	58,859,286 (GRCm38)	missense	unknown
R9381:Gm12258	UTSW	11	58,859,181 (GRCm38)	missense	unknown
R9409:Gm12258	UTSW	11	58,854,293 (GRCm38)	missense
R9546:Gm12258	UTSW	11	58,859,096 (GRCm38)	missense	unknown
R9723:Gm12258	UTSW	11	58,859,622 (GRCm38)	missense	unknown
Z1186:Gm12258	UTSW	11	58,859,864 (GRCm38)	missense	unknown
Z1186:Gm12258	UTSW	11	58,859,188 (GRCm38)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,859,187 (GRCm38)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,859,007 (GRCm38)	missense	unknown
Z1186:Gm12258	UTSW	11	58,858,950 (GRCm38)	missense	unknown
Z1186:Gm12258	UTSW	11	58,858,938 (GRCm38)	missense	unknown
Z1186:Gm12258	UTSW	11	58,858,436 (GRCm38)	missense
Z1186:Gm12258	UTSW	11	58,858,300 (GRCm38)	missense
Z1187:Gm12258	UTSW	11	58,858,300 (GRCm38)	missense
Z1187:Gm12258	UTSW	11	58,858,436 (GRCm38)	missense
Z1187:Gm12258	UTSW	11	58,858,938 (GRCm38)	missense	unknown
Z1187:Gm12258	UTSW	11	58,858,950 (GRCm38)	missense	unknown
Z1187:Gm12258	UTSW	11	58,859,007 (GRCm38)	missense	unknown
Z1187:Gm12258	UTSW	11	58,859,187 (GRCm38)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,859,188 (GRCm38)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,859,864 (GRCm38)	missense	unknown
Z1188:Gm12258	UTSW	11	58,859,188 (GRCm38)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,859,187 (GRCm38)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,859,007 (GRCm38)	missense	unknown
Z1188:Gm12258	UTSW	11	58,858,950 (GRCm38)	missense	unknown
Z1188:Gm12258	UTSW	11	58,858,938 (GRCm38)	missense	unknown
Z1188:Gm12258	UTSW	11	58,858,436 (GRCm38)	missense
Z1188:Gm12258	UTSW	11	58,858,300 (GRCm38)	missense
Z1188:Gm12258	UTSW	11	58,859,864 (GRCm38)	missense	unknown
Z1189:Gm12258	UTSW	11	58,859,864 (GRCm38)	missense	unknown
Z1189:Gm12258	UTSW	11	58,859,188 (GRCm38)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,859,187 (GRCm38)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,859,007 (GRCm38)	missense	unknown
Z1189:Gm12258	UTSW	11	58,858,950 (GRCm38)	missense	unknown
Z1189:Gm12258	UTSW	11	58,858,938 (GRCm38)	missense	unknown
Z1189:Gm12258	UTSW	11	58,858,436 (GRCm38)	missense
Z1189:Gm12258	UTSW	11	58,858,300 (GRCm38)	missense
Z1190:Gm12258	UTSW	11	58,858,300 (GRCm38)	missense
Z1190:Gm12258	UTSW	11	58,858,436 (GRCm38)	missense
Z1190:Gm12258	UTSW	11	58,858,938 (GRCm38)	missense	unknown
Z1190:Gm12258	UTSW	11	58,858,950 (GRCm38)	missense	unknown
Z1190:Gm12258	UTSW	11	58,859,007 (GRCm38)	missense	unknown
Z1190:Gm12258	UTSW	11	58,859,187 (GRCm38)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,859,188 (GRCm38)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,859,864 (GRCm38)	missense	unknown
Z1191:Gm12258	UTSW	11	58,859,864 (GRCm38)	missense	unknown
Z1191:Gm12258	UTSW	11	58,859,188 (GRCm38)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,859,187 (GRCm38)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,859,007 (GRCm38)	missense	unknown
Z1191:Gm12258	UTSW	11	58,858,950 (GRCm38)	missense	unknown
Z1191:Gm12258	UTSW	11	58,858,938 (GRCm38)	missense	unknown
Z1191:Gm12258	UTSW	11	58,858,436 (GRCm38)	missense
Z1191:Gm12258	UTSW	11	58,858,300 (GRCm38)	missense
Z1192:Gm12258	UTSW	11	58,859,864 (GRCm38)	missense	unknown
Z1192:Gm12258	UTSW	11	58,859,188 (GRCm38)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,859,187 (GRCm38)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,859,007 (GRCm38)	missense	unknown
Z1192:Gm12258	UTSW	11	58,858,950 (GRCm38)	missense	unknown
Z1192:Gm12258	UTSW	11	58,858,938 (GRCm38)	missense	unknown
Z1192:Gm12258	UTSW	11	58,858,436 (GRCm38)	missense
Z1192:Gm12258	UTSW	11	58,858,300 (GRCm38)	missense

Predicted Primers

PCR Primer
(F):5'- TGCGGCAATCTCACATCTCCAG -3'
(R):5'- TATTAAGTGGCCCAGGGCTCATTCC -3'

Sequencing Primer
(F):5'- tcgggaggcagaggcag -3'
(R):5'- TCATTCCAGAAGACGTGCTG -3'

Posted On

2014-05-09