Mutagenetix > Incidental Mutation

Incidental Mutation 'R4663:Gm11492'

353032

Institutional Source

Beutler Lab

Gene Symbol

Gm11492

Ensembl Gene

ENSMUSG00000090107

Gene Name

predicted gene 11492

Synonyms

MMRRC Submission

041921-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.099) question?

Stock #

R4663 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

87566653-87569250 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 87567603 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Asparagine at position 268 (Y268N)

Ref Sequence

ENSEMBL: ENSMUSP00000053087 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000060360] [ENSMUST00000122945]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000060360
AA Change: Y268N

PolyPhen 2 Score 0.978 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000053087
Gene: ENSMUSG00000090107
AA Change: Y268N

Domain	Start	End	E-Value	Type
Pfam:DUF4655	13	369	1.7e-99	PFAM
Pfam:DUF4655	366	509	2.7e-68	PFAM
low complexity region	511	536	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000122945

SMART Domains

Protein: ENSMUSP00000115682
Gene: ENSMUSG00000020486

Domain	Start	End	E-Value	Type
low complexity region	87	101	N/A	INTRINSIC
Pfam:DUF258	116	212	2.4e-7	PFAM
Pfam:Septin	134	213	9.1e-31	PFAM
Pfam:MMR_HSR1	139	213	5.5e-7	PFAM

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	T	C	15: 8,218,455 (GRCm38)	V1496A	probably benign	Het
Aqr	A	T	2: 114,161,666 (GRCm38)	Y76*	probably null	Het
Armc5	C	A	7: 128,238,545 (GRCm38)	A140E	probably benign	Het
Auts2	T	C	5: 131,439,638 (GRCm38)	H947R	probably damaging	Het
Bag2	T	C	1: 33,746,993 (GRCm38)	T83A	probably damaging	Het
Bag4	C	T	8: 25,769,488 (GRCm38)	A228T	probably benign	Het
Bean1	A	G	8: 104,211,167 (GRCm38)	Y126C	probably damaging	Het
Cars	T	C	7: 143,575,960 (GRCm38)	E330G	probably damaging	Het
Ccdc40	A	G	11: 119,231,506 (GRCm38)	I45V	probably benign	Het
Cd320	G	A	17: 33,848,178 (GRCm38)	G214R	probably null	Het
Ckm	G	A	7: 19,419,494 (GRCm38)	V237M	probably damaging	Het
Cspg4	T	C	9: 56,886,676 (GRCm38)	V565A	possibly damaging	Het
Ephb6	A	G	6: 41,617,865 (GRCm38)	Y638C	probably damaging	Het
Epp13	T	G	7: 6,258,625 (GRCm38)	I35S	possibly damaging	Het
Fam196a	A	T	7: 134,899,148 (GRCm38)	Y409*	probably null	Het
Fat2	G	C	11: 55,296,213 (GRCm38)	S1269*	probably null	Het
Fbxo3	T	C	2: 104,053,475 (GRCm38)	V348A	probably damaging	Het
Gas6	G	A	8: 13,470,254 (GRCm38)	P478L	probably damaging	Het
Herc1	T	C	9: 66,433,378 (GRCm38)	S1670P	probably damaging	Het
Hnrnpk	C	A	13: 58,394,517 (GRCm38)	R281L	probably damaging	Het
Ifih1	C	A	2: 62,609,219 (GRCm38)	C488F	probably benign	Het
Ift172	T	C	5: 31,284,215 (GRCm38)	K192E	probably benign	Het
Ighv5-9	T	A	12: 113,661,820 (GRCm38)	Q101L	probably benign	Het
Igkv3-2	G	T	6: 70,698,879 (GRCm38)	M57I	probably benign	Het
Itpr2	A	G	6: 146,373,173 (GRCm38)	F837S	probably damaging	Het
L3mbtl3	T	C	10: 26,337,817 (GRCm38)	Y237C	unknown	Het
Lats1	G	A	10: 7,712,583 (GRCm38)	C988Y	probably damaging	Het
Lgals3	T	A	14: 47,381,622 (GRCm38)		probably null	Het
Lrrc3b	G	T	14: 15,358,220 (GRCm38)	H129N	probably benign	Het
Lrriq1	T	C	10: 103,063,412 (GRCm38)	H1656R	possibly damaging	Het
Lypd6	T	G	2: 50,173,611 (GRCm38)	Y43*	probably null	Het
Mfsd7a	T	C	5: 108,442,145 (GRCm38)	M464V	probably benign	Het
Mical2	A	G	7: 112,328,677 (GRCm38)	D674G	possibly damaging	Het
Msi1	G	A	5: 115,450,275 (GRCm38)	R284Q	probably damaging	Het
Mybpc2	T	C	7: 44,505,642 (GRCm38)	E947G	probably damaging	Het
Nat14	T	A	7: 4,924,447 (GRCm38)	L206Q	probably damaging	Het
Nup88	A	T	11: 70,965,846 (GRCm38)		probably null	Het
Olfr27	A	T	9: 39,144,849 (GRCm38)	I250F	probably damaging	Het
Olfr727	A	G	14: 50,127,482 (GRCm38)	R302G	probably benign	Het
Olfr743	A	T	14: 50,533,604 (GRCm38)	Y64F	probably damaging	Het
Pdcl	T	C	2: 37,355,766 (GRCm38)	E75G	probably damaging	Het
Phf14	A	G	6: 11,953,422 (GRCm38)	I387V	possibly damaging	Het
Phf3	G	A	1: 30,821,215 (GRCm38)	R845W	probably damaging	Het
Pm20d1	T	C	1: 131,798,602 (GRCm38)	I59T	probably damaging	Het
Prkd1	C	T	12: 50,419,848 (GRCm38)		probably null	Het
Psmb2	T	C	4: 126,677,765 (GRCm38)	L4P	probably damaging	Het
Pttg1	T	A	11: 43,424,850 (GRCm38)	K46*	probably null	Het
Rrnad1	A	G	3: 87,927,748 (GRCm38)	S82P	probably damaging	Het
Ryr2	T	C	13: 11,749,509 (GRCm38)	H1401R	possibly damaging	Het
Sh3d19	G	A	3: 86,123,263 (GRCm38)	D696N	probably benign	Het
Slc16a2	T	C	X: 103,707,979 (GRCm38)	T274A	probably benign	Het
Slc26a6	G	A	9: 108,857,907 (GRCm38)	A335T	probably damaging	Het
Slc6a5	C	A	7: 49,938,398 (GRCm38)	Y493*	probably null	Het
Slf1	A	T	13: 77,126,604 (GRCm38)	S37R	probably damaging	Het
Smoc1	G	A	12: 81,167,602 (GRCm38)	G264S	probably damaging	Het
Snapc4	T	C	2: 26,374,181 (GRCm38)	E280G	possibly damaging	Het
Snx25	G	A	8: 46,035,579 (GRCm38)	T913M	probably damaging	Het
Snx7	T	C	3: 117,800,879 (GRCm38)	T408A	probably benign	Het
Spdya	T	A	17: 71,578,344 (GRCm38)	S264R	probably benign	Het
Spg11	A	T	2: 122,098,099 (GRCm38)		probably null	Het
Suz12	T	A	11: 80,013,524 (GRCm38)	L230Q	probably damaging	Het
Szt2	A	G	4: 118,377,684 (GRCm38)		probably benign	Het
Tenm3	C	A	8: 48,235,970 (GRCm38)	R2194L	probably damaging	Het
Tmed8	T	A	12: 87,174,231 (GRCm38)	I194F	probably damaging	Het
Tmem79	T	A	3: 88,333,444 (GRCm38)	T66S	probably damaging	Het
Trappc1	T	A	11: 69,325,511 (GRCm38)	S118T	probably benign	Het
Ttn	T	C	2: 76,776,495 (GRCm38)	T18024A	probably damaging	Het
Ttn	C	T	2: 76,738,881 (GRCm38)	V27223I	probably benign	Het
Vmn2r15	C	T	5: 109,294,074 (GRCm38)	M164I	probably benign	Het
Vmn2r53	T	A	7: 12,600,974 (GRCm38)	Y253F	probably benign	Het
Wdr92	T	C	11: 17,232,853 (GRCm38)	V338A	probably benign	Het
Zfand6	C	T	7: 84,617,885 (GRCm38)	R163H	probably benign	Het

Other mutations in Gm11492

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01803:Gm11492	APN	11	87,568,249 (GRCm38)	missense	probably benign	0.07
IGL01993:Gm11492	APN	11	87,567,729 (GRCm38)	missense	possibly damaging	0.85
IGL02566:Gm11492	APN	11	87,567,642 (GRCm38)	missense	probably benign	0.00
IGL03213:Gm11492	APN	11	87,567,358 (GRCm38)	splice site	probably null
IGL03388:Gm11492	APN	11	87,568,216 (GRCm38)	nonsense	probably null
R0050:Gm11492	UTSW	11	87,567,346 (GRCm38)	missense	probably damaging	1.00
R1479:Gm11492	UTSW	11	87,567,418 (GRCm38)	missense	probably damaging	1.00
R1851:Gm11492	UTSW	11	87,568,915 (GRCm38)	missense	probably damaging	1.00
R1862:Gm11492	UTSW	11	87,567,235 (GRCm38)	missense	possibly damaging	0.48
R1913:Gm11492	UTSW	11	87,567,012 (GRCm38)	missense	probably benign
R3149:Gm11492	UTSW	11	87,567,244 (GRCm38)	missense	possibly damaging	0.46
R3176:Gm11492	UTSW	11	87,567,244 (GRCm38)	missense	possibly damaging	0.46
R3276:Gm11492	UTSW	11	87,567,244 (GRCm38)	missense	possibly damaging	0.46
R4021:Gm11492	UTSW	11	87,567,280 (GRCm38)	missense	probably damaging	1.00
R4117:Gm11492	UTSW	11	87,568,282 (GRCm38)	missense	probably damaging	1.00
R4332:Gm11492	UTSW	11	87,567,904 (GRCm38)	missense	possibly damaging	0.95
R4515:Gm11492	UTSW	11	87,568,057 (GRCm38)	missense	probably benign
R4952:Gm11492	UTSW	11	87,567,772 (GRCm38)	missense	probably benign	0.00
R5015:Gm11492	UTSW	11	87,567,217 (GRCm38)	missense	possibly damaging	0.95
R5176:Gm11492	UTSW	11	87,567,532 (GRCm38)	missense	probably benign	0.02
R5711:Gm11492	UTSW	11	87,567,897 (GRCm38)	missense	probably benign	0.07
R6305:Gm11492	UTSW	11	87,567,319 (GRCm38)	missense	probably benign	0.00
R9289:Gm11492	UTSW	11	87,568,966 (GRCm38)	nonsense	probably null
T0970:Gm11492	UTSW	11	87,567,732 (GRCm38)	missense	probably damaging	0.98
Z1177:Gm11492	UTSW	11	87,567,922 (GRCm38)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GTAGGATTTCAGCATACCCGAAG -3'
(R):5'- AAATGGTCACCTTGCGTGTG -3'

Sequencing Primer
(F):5'- GGATGAAGCTATACAAACAGAGCCC -3'
(R):5'- GACCTCACGTTCTCGGGTTG -3'

Posted On

2015-10-08