Mutagenetix > Incidental Mutation

Incidental Mutation 'R2290:D6Ertd527e'

244260

Institutional Source

Beutler Lab

Gene Symbol

D6Ertd527e

Ensembl Gene

ENSMUSG00000090891

Gene Name

DNA segment, Chr 6, ERATO Doi 527, expressed

Synonyms

MMRRC Submission

040289-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.166) question?

Stock #

R2290 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

87081729-87089979 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 87088527 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 230 (N230S)

Ref Sequence

ENSEMBL: ENSMUSP00000145529 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000170124] [ENSMUST00000203747] [ENSMUST00000204927]

AlphaFold

A0A0N4SWI3

Predicted Effect

unknown
Transcript: ENSMUST00000170124
AA Change: N229S

SMART Domains

Protein: ENSMUSP00000130803
Gene: ENSMUSG00000090891
AA Change: N229S

Domain	Start	End	E-Value	Type
low complexity region	7	183	N/A	INTRINSIC
internal_repeat_1	186	207	1.15e-33	PROSPERO
low complexity region	212	243	N/A	INTRINSIC
internal_repeat_2	244	254	2.22e-11	PROSPERO
internal_repeat_2	260	270	2.22e-11	PROSPERO
low complexity region	272	294	N/A	INTRINSIC
internal_repeat_1	297	318	1.15e-33	PROSPERO
low complexity region	323	459	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203725

Predicted Effect

unknown
Transcript: ENSMUST00000203747
AA Change: N229S

SMART Domains

Protein: ENSMUSP00000144761
Gene: ENSMUSG00000090891
AA Change: N229S

Domain	Start	End	E-Value	Type
low complexity region	5	182	N/A	INTRINSIC
internal_repeat_1	185	206	1.04e-33	PROSPERO
low complexity region	211	242	N/A	INTRINSIC
internal_repeat_2	243	253	2.12e-11	PROSPERO
internal_repeat_2	259	269	2.12e-11	PROSPERO
low complexity region	271	293	N/A	INTRINSIC
internal_repeat_1	296	317	1.04e-33	PROSPERO
low complexity region	322	458	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000204927
AA Change: N230S

SMART Domains

Protein: ENSMUSP00000145529
Gene: ENSMUSG00000090891
AA Change: N230S

Domain	Start	End	E-Value	Type
low complexity region	7	183	N/A	INTRINSIC
internal_repeat_1	186	207	1.15e-33	PROSPERO
low complexity region	212	243	N/A	INTRINSIC
internal_repeat_2	244	254	2.22e-11	PROSPERO
internal_repeat_2	260	270	2.22e-11	PROSPERO
low complexity region	272	294	N/A	INTRINSIC
internal_repeat_1	297	318	1.15e-33	PROSPERO
low complexity region	323	459	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205257

Meta Mutation Damage Score

0.0869

Coding Region Coverage

1x: 99.1%
3x: 98.6%
10x: 97.3%
20x: 95.2%

Validation Efficiency

100% (73/73)

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aldh1l2	T	C	10: 83,363,177 (GRCm39)	D62G	probably damaging	Het
Ambp	T	C	4: 63,061,924 (GRCm39)	Y335C	probably damaging	Het
Arid4a	G	T	12: 71,108,315 (GRCm39)	G40V	probably damaging	Het
Asb13	G	A	13: 3,699,418 (GRCm39)	G206D	probably damaging	Het
Ccdc7b	A	G	8: 129,857,587 (GRCm39)		probably benign	Het
Cdh15	A	T	8: 123,586,056 (GRCm39)	N145I	probably damaging	Het
Celsr3	T	C	9: 108,720,423 (GRCm39)	I2565T	probably damaging	Het
Cfap43	A	T	19: 47,761,574 (GRCm39)	M840K	probably damaging	Het
Clip4	T	C	17: 72,117,948 (GRCm39)	V331A	possibly damaging	Het
Cnnm1	A	G	19: 43,479,941 (GRCm39)	T829A	probably benign	Het
Col24a1	G	A	3: 145,218,950 (GRCm39)	G1457E	probably damaging	Het
Dll1	T	C	17: 15,595,010 (GRCm39)	D89G	probably benign	Het
Dst	T	A	1: 34,268,281 (GRCm39)	V2901E	probably damaging	Het
Dvl1	G	A	4: 155,932,273 (GRCm39)	V28I	possibly damaging	Het
Efl1	A	T	7: 82,426,878 (GRCm39)	K1125N	probably damaging	Het
Efr3a	T	A	15: 65,721,688 (GRCm39)	F437L	probably benign	Het
Eqtn	GTTCTTCTTC	GTTCTTC	4: 94,815,179 (GRCm39)		probably benign	Het
Ermp1	T	C	19: 29,601,178 (GRCm39)	D523G	probably damaging	Het
Gm38999	A	G	7: 43,077,123 (GRCm39)	E5G	probably benign	Het
Gm5828	C	T	1: 16,838,568 (GRCm39)		noncoding transcript	Het
Gnas	T	C	2: 174,141,803 (GRCm39)	F717L	probably benign	Het
H6pd	T	A	4: 150,066,338 (GRCm39)	S683C	probably damaging	Het
Il23r	G	A	6: 67,400,845 (GRCm39)	T495I	probably benign	Het
Itpr2	T	C	6: 146,324,326 (GRCm39)	N135D	probably damaging	Het
Kcns2	T	A	15: 34,838,655 (GRCm39)	L6Q	possibly damaging	Het
Khdrbs3	C	T	15: 68,901,610 (GRCm39)	R132C	probably damaging	Het
Kif2b	A	G	11: 91,466,522 (GRCm39)	V587A	probably benign	Het
Kng1	A	T	16: 22,897,875 (GRCm39)	H425L	possibly damaging	Het
Letm1	A	AG	5: 33,926,859 (GRCm39)		probably null	Het
Lrrc8e	T	C	8: 4,281,770 (GRCm39)	M35T	probably damaging	Het
Med12l	A	G	3: 59,152,359 (GRCm39)	N1048S	probably damaging	Het
Mex3c	A	C	18: 73,723,764 (GRCm39)	N619T	probably damaging	Het
Mfsd4b1	G	A	10: 39,879,327 (GRCm39)	T190I	probably damaging	Het
Ncam1	A	G	9: 49,434,951 (GRCm39)		probably benign	Het
Nlrp6	G	A	7: 140,502,076 (GRCm39)	G133S	probably damaging	Het
Oplah	A	G	15: 76,186,925 (GRCm39)	V630A	probably benign	Het
Or1e26	G	T	11: 73,479,745 (GRCm39)	A273D	probably benign	Het
Or2y1	A	G	11: 49,385,857 (GRCm39)	M166V	probably benign	Het
Or5ak24	C	T	2: 85,260,544 (GRCm39)	V210M	possibly damaging	Het
Or8g36	A	G	9: 39,422,974 (GRCm39)	L14P	possibly damaging	Het
Pcnx2	A	T	8: 126,604,334 (GRCm39)		probably benign	Het
Pkhd1l1	A	T	15: 44,391,646 (GRCm39)	T1571S	probably benign	Het
Pramel13	T	A	4: 144,121,269 (GRCm39)	T252S	probably benign	Het
Pramel13	G	T	4: 144,121,692 (GRCm39)	H111N	probably benign	Het
Prr22	T	G	17: 57,078,884 (GRCm39)	F346V	probably benign	Het
Prr30	T	C	14: 101,436,211 (GRCm39)	N117S	possibly damaging	Het
Ptgfrn	A	G	3: 100,984,677 (GRCm39)	S172P	possibly damaging	Het
Ptprc	C	T	1: 138,038,926 (GRCm39)	V364I	probably benign	Het
Ptprz1	T	C	6: 23,000,990 (GRCm39)	S1027P	probably damaging	Het
Rinl	T	C	7: 28,491,696 (GRCm39)	V83A	probably benign	Het
Ros1	A	T	10: 51,994,477 (GRCm39)	S1268T	probably damaging	Het
Scly	T	C	1: 91,226,172 (GRCm39)		probably null	Het
Slc25a1	C	T	16: 17,743,712 (GRCm39)	V186M	possibly damaging	Het
Stk36	T	G	1: 74,665,303 (GRCm39)		probably benign	Het
Syn2	A	G	6: 115,251,190 (GRCm39)	T449A	possibly damaging	Het
Tecpr1	T	C	5: 144,150,881 (GRCm39)	D309G	probably damaging	Het
Tent4b	T	C	8: 88,978,603 (GRCm39)	S435P	probably damaging	Het
Tns2	T	A	15: 102,020,458 (GRCm39)	Y775N	probably damaging	Het
Tril	G	T	6: 53,795,012 (GRCm39)	R737S	probably damaging	Het
Ttl	G	A	2: 128,923,190 (GRCm39)	G177D	possibly damaging	Het
Twf1	A	G	15: 94,484,400 (GRCm39)	S41P	probably damaging	Het
Unc79	C	T	12: 103,112,625 (GRCm39)	T2174M	probably damaging	Het
Vangl2	T	A	1: 171,836,113 (GRCm39)	K340*	probably null	Het
Vmn2r72	T	A	7: 85,387,549 (GRCm39)	T672S	probably damaging	Het
Vwa7	A	G	17: 35,236,187 (GRCm39)	D47G	probably damaging	Het
Zc3h12d	A	G	10: 7,743,223 (GRCm39)	H331R	probably benign	Het
Zfa-ps	T	C	10: 52,421,112 (GRCm39)		noncoding transcript	Het
Zfp141	A	T	7: 42,124,649 (GRCm39)	C608S	probably damaging	Het
Zfp422	A	G	6: 116,603,603 (GRCm39)	I132T	possibly damaging	Het
Zfp652	A	G	11: 95,640,849 (GRCm39)	Y258C	possibly damaging	Het

Other mutations in D6Ertd527e

Allele	Source	Chr	Coord	Type	Predicted Effect
Bursting	UTSW	6	87,088,299 (GRCm39)	missense	unknown
R0739_D6Ertd527e_618	UTSW	6	87,088,650 (GRCm39)	missense	unknown
sonenschein	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R0325:D6Ertd527e	UTSW	6	87,088,277 (GRCm39)	missense	unknown
R0415:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R0607:D6Ertd527e	UTSW	6	87,088,887 (GRCm39)	missense	unknown
R0739:D6Ertd527e	UTSW	6	87,088,650 (GRCm39)	missense	unknown
R0992:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R0993:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1193:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1195:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1195:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1195:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1196:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1386:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1413:D6Ertd527e	UTSW	6	87,088,335 (GRCm39)	missense	unknown
R1485:D6Ertd527e	UTSW	6	87,088,067 (GRCm39)	missense	unknown
R1560:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1561:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R1568:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R4155:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R4461:D6Ertd527e	UTSW	6	87,088,299 (GRCm39)	missense	unknown
R4836:D6Ertd527e	UTSW	6	87,088,406 (GRCm39)	small insertion	probably benign
R5102:D6Ertd527e	UTSW	6	87,088,793 (GRCm39)	missense	unknown
R5149:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R5150:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R5681:D6Ertd527e	UTSW	6	87,088,188 (GRCm39)	missense	unknown
R6250:D6Ertd527e	UTSW	6	87,088,194 (GRCm39)	missense	unknown
R6398:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R6441:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R7001:D6Ertd527e	UTSW	6	87,088,194 (GRCm39)	missense	unknown
R7142:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R7297:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
R7821:D6Ertd527e	UTSW	6	87,087,879 (GRCm39)	missense	unknown
R8047:D6Ertd527e	UTSW	6	87,088,454 (GRCm39)	missense	unknown
R8827:D6Ertd527e	UTSW	6	87,088,226 (GRCm39)	missense	unknown
R9038:D6Ertd527e	UTSW	6	87,089,233 (GRCm39)	makesense	probably null
R9503:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9535:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9537:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9538:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9593:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9635:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9639:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9664:D6Ertd527e	UTSW	6	87,088,908 (GRCm39)	missense	unknown
R9669:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9672:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9734:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9735:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9736:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9737:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9740:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9767:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9769:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9770:D6Ertd527e	UTSW	6	87,088,839 (GRCm39)	missense	unknown
R9783:D6Ertd527e	UTSW	6	87,088,602 (GRCm39)	missense	unknown
S24628:D6Ertd527e	UTSW	6	87,088,506 (GRCm39)	missense	unknown
V1662:D6Ertd527e	UTSW	6	87,088,874 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- GGCAGCATCAGCAACTATGAC -3'
(R):5'- CTGCTGCCTGTGTTACTAGG -3'

Sequencing Primer
(F):5'- GCAGCAACAGCAGCAGTC -3'
(R):5'- GCTGCCTGTGTTACTAGGTCTTC -3'

Posted On

2014-10-30