Mutagenetix > Incidental Mutation

Incidental Mutation 'R4066:Gm12258'

316121

Institutional Source

Beutler Lab

Gene Symbol

Gm12258

Ensembl Gene

ENSMUSG00000072915

Gene Name

predicted gene 12258

Synonyms

MMRRC Submission

040973-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4066 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58737984-58752782 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58749352 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 176 (L176F)

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

probably benign
Transcript: ENSMUST00000139337
AA Change: L176F

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000117644
Gene: ENSMUSG00000072915
AA Change: L176F

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

96% (50/52)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam23	A	T	1: 63,602,584 (GRCm39)	H582L	probably damaging	Het
Ankrd13d	C	T	19: 4,320,388 (GRCm39)	A118T	probably benign	Het
Arhgap30	C	T	1: 171,235,891 (GRCm39)	T755I	probably benign	Het
Cab39l	A	G	14: 59,784,454 (GRCm39)	H285R	probably benign	Het
Dpyd	AAT	AATGTATATATAT	3: 118,690,738 (GRCm39)		probably benign	Het
Dspp	T	A	5: 104,325,060 (GRCm39)	N474K	unknown	Het
Fanci	T	C	7: 79,062,505 (GRCm39)		probably null	Het
Fras1	T	A	5: 96,918,542 (GRCm39)	I3526K	possibly damaging	Het
Fut8	T	A	12: 77,510,835 (GRCm39)	Y421N	probably damaging	Het
Gm8220	A	T	14: 44,523,095 (GRCm39)	R12*	probably null	Het
Hecw1	T	C	13: 14,491,016 (GRCm39)	S659G	probably damaging	Het
Hnrnpr	C	A	4: 136,066,657 (GRCm39)		probably benign	Het
Htt	C	T	5: 35,036,191 (GRCm39)	T2046I	probably benign	Het
Kat7	T	C	11: 95,174,967 (GRCm39)	D259G	possibly damaging	Het
Klra9	T	C	6: 130,165,707 (GRCm39)	T103A	probably benign	Het
Lad1	A	G	1: 135,755,165 (GRCm39)	E147G	probably damaging	Het
Lipo2	T	C	19: 33,698,259 (GRCm39)	I373V	probably benign	Het
Ltb4r1	G	T	14: 56,004,952 (GRCm39)	W85L	probably damaging	Het
Ltn1	T	C	16: 87,213,118 (GRCm39)	Y481C	possibly damaging	Het
Man1c1	G	C	4: 134,430,749 (GRCm39)	P11R	probably damaging	Het
Muc4	A	T	16: 32,569,869 (GRCm39)	I310F	possibly damaging	Het
Myl10	A	G	5: 136,724,304 (GRCm39)	K70E	probably damaging	Het
Nptx2	G	T	5: 144,493,122 (GRCm39)	W403L	probably damaging	Het
Nyap2	A	G	1: 81,219,550 (GRCm39)	Y524C	probably damaging	Het
Or4a72	T	A	2: 89,405,523 (GRCm39)	L182F	probably damaging	Het
Or6b2b	A	G	1: 92,418,911 (GRCm39)	C189R	probably damaging	Het
Or8b1	T	A	9: 38,399,778 (GRCm39)	M151K	probably benign	Het
Pde9a	A	G	17: 31,662,812 (GRCm39)	*64W	probably null	Het
Ppp2r5b	T	C	19: 6,279,360 (GRCm39)	Y379C	probably damaging	Het
Rd3l	T	G	12: 111,945,945 (GRCm39)	N178T	probably benign	Het
Recql4	A	G	15: 76,590,027 (GRCm39)	Y673H	probably damaging	Het
Rnps1-ps	T	A	6: 7,983,009 (GRCm39)		noncoding transcript	Het
Shcbp1	A	G	8: 4,798,716 (GRCm39)	I401T	probably damaging	Het
Shd	A	T	17: 56,278,581 (GRCm39)	D48V	probably damaging	Het
Slc14a1	A	G	18: 78,154,592 (GRCm39)	W209R	probably damaging	Het
Slc2a9	T	C	5: 38,640,692 (GRCm39)	K6E	probably benign	Het
Slco6d1	A	G	1: 98,391,571 (GRCm39)		probably benign	Het
Spic	T	C	10: 88,511,545 (GRCm39)	H237R	possibly damaging	Het
Stau2	A	G	1: 16,464,283 (GRCm39)	S156P	possibly damaging	Het
Stmn2	T	C	3: 8,574,668 (GRCm39)		probably benign	Het
Togaram2	C	A	17: 72,023,233 (GRCm39)		probably benign	Het
Trpc5	T	A	X: 143,202,594 (GRCm39)	R545*	probably null	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Wdfy3	C	T	5: 102,070,313 (GRCm39)	V1152I	probably benign	Het
Xpo4	G	T	14: 57,825,511 (GRCm39)	H939N	probably benign	Het

Other mutations in Gm12258

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00557:Gm12258	APN	11	58,746,896 (GRCm39)	missense	probably benign
IGL01391:Gm12258	APN	11	58,739,520 (GRCm39)	missense	probably benign	0.03
IGL03081:Gm12258	APN	11	58,749,085 (GRCm39)	missense	probably benign	0.07
R1521:Gm12258	UTSW	11	58,750,381 (GRCm39)	missense	probably damaging	1.00
R1653:Gm12258	UTSW	11	58,749,113 (GRCm39)	missense	possibly damaging	0.68
R3895:Gm12258	UTSW	11	58,749,375 (GRCm39)	nonsense	probably null
R4065:Gm12258	UTSW	11	58,749,352 (GRCm39)	missense	probably benign	0.08
R4747:Gm12258	UTSW	11	58,750,422 (GRCm39)	missense	probably damaging	1.00
R4803:Gm12258	UTSW	11	58,749,856 (GRCm39)	missense	probably benign	0.06
R5554:Gm12258	UTSW	11	58,749,294 (GRCm39)	missense	possibly damaging	0.92
R5896:Gm12258	UTSW	11	58,750,457 (GRCm39)	missense	probably damaging	1.00
R5956:Gm12258	UTSW	11	58,750,285 (GRCm39)	missense	probably benign	0.02
R6277:Gm12258	UTSW	11	58,745,113 (GRCm39)	missense	probably damaging	1.00
R7166:Gm12258	UTSW	11	58,749,299 (GRCm39)	missense
R7728:Gm12258	UTSW	11	58,750,518 (GRCm39)	missense	unknown
R8161:Gm12258	UTSW	11	58,750,138 (GRCm39)	missense	unknown
R8268:Gm12258	UTSW	11	58,745,084 (GRCm39)	critical splice acceptor site	probably null
R8491:Gm12258	UTSW	11	58,745,122 (GRCm39)	missense
R8878:Gm12258	UTSW	11	58,750,112 (GRCm39)	missense	unknown
R9381:Gm12258	UTSW	11	58,750,007 (GRCm39)	missense	unknown
R9409:Gm12258	UTSW	11	58,745,119 (GRCm39)	missense
R9546:Gm12258	UTSW	11	58,749,922 (GRCm39)	missense	unknown
R9723:Gm12258	UTSW	11	58,750,448 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1186:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1186:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1186:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1187:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1187:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1187:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1188:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1188:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1188:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1188:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1189:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1189:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1189:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1190:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1190:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1190:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1191:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1191:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1191:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense
Z1192:Gm12258	UTSW	11	58,750,690 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,750,014 (GRCm39)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,750,013 (GRCm39)	unclassified	probably benign
Z1192:Gm12258	UTSW	11	58,749,833 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,776 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,764 (GRCm39)	missense	unknown
Z1192:Gm12258	UTSW	11	58,749,262 (GRCm39)	missense
Z1192:Gm12258	UTSW	11	58,749,126 (GRCm39)	missense

Predicted Primers

PCR Primer
(F):5'- CTCCAGCAGGAAAAGCATTG -3'
(R):5'- AAGTTTGTACCTGTGCCCGAG -3'

Sequencing Primer
(F):5'- ATTGAGTAGCTCACACCGTG -3'
(R):5'- TGGCAGGAAGAGCTAACTTTTC -3'

Posted On

2015-05-15