Mutagenetix > Incidental Mutation

Incidental Mutation 'R2274:D7Ertd443e'

244972

Institutional Source

Beutler Lab

Gene Symbol

D7Ertd443e

Ensembl Gene

ENSMUSG00000030994

Gene Name

DNA segment, Chr 7, ERATO Doi 443, expressed

Synonyms

4933400E14Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R2274 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

133867508-134102889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133871930 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 644 (S644P)

Ref Sequence

ENSEMBL: ENSMUSP00000134479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000106129] [ENSMUST00000172947] [ENSMUST00000174700]

AlphaFold

D2J0Y4

Predicted Effect

probably damaging
Transcript: ENSMUST00000094002
AA Change: S597P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: S597P

Domain	Start	End	E-Value	Type
low complexity region	179	192	N/A	INTRINSIC
low complexity region	238	249	N/A	INTRINSIC
low complexity region	279	292	N/A	INTRINSIC
low complexity region	396	410	N/A	INTRINSIC
low complexity region	478	494	N/A	INTRINSIC
Pfam:ALMS_motif	511	644	3.7e-39	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000106129
AA Change: S238P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000101735
Gene: ENSMUSG00000030994
AA Change: S238P

Domain	Start	End	E-Value	Type
low complexity region	37	51	N/A	INTRINSIC
low complexity region	119	135	N/A	INTRINSIC
Pfam:ALMS_motif	152	285	7.4e-40	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000172947
AA Change: S644P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: S644P

Domain	Start	End	E-Value	Type
low complexity region	226	239	N/A	INTRINSIC
low complexity region	285	296	N/A	INTRINSIC
low complexity region	326	339	N/A	INTRINSIC
low complexity region	443	457	N/A	INTRINSIC
low complexity region	525	541	N/A	INTRINSIC
Pfam:ALMS_motif	559	689	1.2e-52	PFAM

Predicted Effect

SMART Domains

Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994
AA Change: S88P

Domain	Start	End	E-Value	Type
Pfam:ALMS_motif	25	98	2.3e-12	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206005

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.4%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2300003K06Rik	A	T	11: 99,728,667 (GRCm39)	C59S	possibly damaging	Het
Abca5	A	T	11: 110,166,107 (GRCm39)	N1556K	possibly damaging	Het
Abcb10	G	T	8: 124,709,491 (GRCm39)	A21E	probably benign	Het
Ackr1	T	C	1: 173,160,052 (GRCm39)	N156D	probably benign	Het
Adamtsl3	A	T	7: 82,255,766 (GRCm39)	S1593C	probably benign	Het
Ank3	T	A	10: 69,786,772 (GRCm39)		probably null	Het
Aqp4	A	G	18: 15,526,537 (GRCm39)	S315P	probably benign	Het
Atp7b	T	C	8: 22,510,848 (GRCm39)	I433V	probably benign	Het
Bco1	G	A	8: 117,835,522 (GRCm39)		probably null	Het
Cacna1g	T	A	11: 94,306,762 (GRCm39)	E1842V	probably damaging	Het
Calhm3	T	A	19: 47,145,986 (GRCm39)	Q73L	probably damaging	Het
Car5a	C	T	8: 122,671,408 (GRCm39)		probably null	Het
Cdk11b	T	A	4: 155,732,051 (GRCm39)		probably benign	Het
Cdr2	A	T	7: 120,557,732 (GRCm39)	H264Q	possibly damaging	Het
Col9a2	C	G	4: 120,911,455 (GRCm39)	R599G	probably damaging	Het
Dnlz	A	T	2: 26,241,483 (GRCm39)	C82S	probably damaging	Het
Egr4	A	T	6: 85,489,725 (GRCm39)	F112I	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
F11	T	C	8: 45,705,184 (GRCm39)	D119G	possibly damaging	Het
Fat4	T	A	3: 39,050,048 (GRCm39)	V3970D	possibly damaging	Het
Fbxw5	C	A	2: 25,394,773 (GRCm39)	C222*	probably null	Het
Fn1	C	T	1: 71,653,102 (GRCm39)	G1296R	probably null	Het
Ghr	A	G	15: 3,349,507 (GRCm39)	V557A	probably benign	Het
Gm11568	A	G	11: 99,749,070 (GRCm39)	S92G	unknown	Het
Gpatch1	A	T	7: 34,988,103 (GRCm39)	S678T	probably benign	Het
Gpr155	A	G	2: 73,178,479 (GRCm39)		probably null	Het
Gucy2f	A	T	X: 140,899,269 (GRCm39)	M697K	probably benign	Het
Hecw1	T	C	13: 14,520,653 (GRCm39)	T195A	probably benign	Het
Hoxd1	A	G	2: 74,594,501 (GRCm39)	K252R	probably damaging	Het
Iqck	G	A	7: 118,498,880 (GRCm39)	D173N	possibly damaging	Het
Irf8	A	G	8: 121,480,266 (GRCm39)	E168G	probably damaging	Het
Kcnh1	T	G	1: 192,019,829 (GRCm39)	V358G	probably damaging	Het
Kifap3	T	A	1: 163,696,327 (GRCm39)	V652D	possibly damaging	Het
L3hypdh	T	C	12: 72,131,632 (GRCm39)	Y100C	possibly damaging	Het
Map4k1	T	A	7: 28,701,382 (GRCm39)	H729Q	probably damaging	Het
Marchf1	T	A	8: 66,840,151 (GRCm39)	N311K	probably benign	Het
Mier2	T	C	10: 79,380,368 (GRCm39)	I321V	probably damaging	Het
Mta1	C	T	12: 113,091,770 (GRCm39)	S291L	probably damaging	Het
Myh2	A	G	11: 67,081,184 (GRCm39)	K1267E	possibly damaging	Het
Nbea	A	T	3: 55,895,506 (GRCm39)		probably null	Het
Nexmif	T	G	X: 103,131,452 (GRCm39)	E155A	possibly damaging	Het
Nkpd1	A	G	7: 19,257,822 (GRCm39)	I534V	probably benign	Het
Nxph1	G	T	6: 9,247,746 (GRCm39)	C239F	probably damaging	Het
Odc1	A	G	12: 17,598,425 (GRCm39)	I189V	probably benign	Het
Or1n1	A	T	2: 36,750,113 (GRCm39)	N82K	probably damaging	Het
Or2t44	T	C	11: 58,677,492 (GRCm39)	V144A	probably benign	Het
Or5d41	A	G	2: 88,055,167 (GRCm39)	F70L	probably benign	Het
Or6c35	T	C	10: 129,169,326 (GRCm39)	I192T	probably benign	Het
Pcdhb15	T	C	18: 37,608,496 (GRCm39)	L576P	probably damaging	Het
Raph1	T	C	1: 60,537,659 (GRCm39)	D499G	probably damaging	Het
Rptor	T	A	11: 119,647,148 (GRCm39)	C246*	probably null	Het
Rtl1	T	C	12: 109,561,101 (GRCm39)	E246G	unknown	Het
Setx	GTGGCT	GT	2: 29,044,073 (GRCm39)	1814	probably null	Het
Slc12a3	T	A	8: 95,059,915 (GRCm39)	I187N	possibly damaging	Het
Slc46a1	T	G	11: 78,357,249 (GRCm39)	S101A	probably benign	Het
Slc4a8	A	G	15: 100,705,283 (GRCm39)	M830V	probably benign	Het
Sned1	T	A	1: 93,209,364 (GRCm39)		probably null	Het
St3gal6	T	A	16: 58,309,332 (GRCm39)	E34D	possibly damaging	Het
Tcstv3	C	T	13: 120,779,190 (GRCm39)	Q30*	probably null	Het
Tex16	T	A	X: 111,030,838 (GRCm39)	D1112E	probably damaging	Het
Tmcc3	G	A	10: 94,414,777 (GRCm39)	V160I	probably damaging	Het
Tmf1	T	A	6: 97,140,547 (GRCm39)	L776F	probably damaging	Het
Tsr1	A	T	11: 74,795,653 (GRCm39)		probably null	Het
Tyrp1	A	T	4: 80,755,771 (GRCm39)	E180V	probably damaging	Het
Ubr3	T	C	2: 69,846,685 (GRCm39)	V1636A	probably benign	Het
Usp1	T	C	4: 98,818,079 (GRCm39)	L139P	probably damaging	Het
Vmn1r232	A	G	17: 21,134,465 (GRCm39)	L45P	probably benign	Het
Vmn1r49	G	A	6: 90,049,126 (GRCm39)	T292I	probably benign	Het
Wdr19	T	A	5: 65,398,334 (GRCm39)	M853K	possibly damaging	Het
Zkscan8	C	T	13: 21,705,966 (GRCm39)	M265I	probably benign	Het

Other mutations in D7Ertd443e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02159:D7Ertd443e	APN	7	133,951,129 (GRCm39)	missense	possibly damaging	0.56
R0369:D7Ertd443e	UTSW	7	133,899,866 (GRCm39)	missense	possibly damaging	0.56
R0501:D7Ertd443e	UTSW	7	133,896,701 (GRCm39)	missense	probably damaging	1.00
R1073:D7Ertd443e	UTSW	7	133,871,947 (GRCm39)	missense	probably damaging	1.00
R1083:D7Ertd443e	UTSW	7	133,950,663 (GRCm39)	nonsense	probably null
R1744:D7Ertd443e	UTSW	7	133,951,142 (GRCm39)	missense	probably benign	0.00
R1801:D7Ertd443e	UTSW	7	133,871,941 (GRCm39)	missense	probably damaging	1.00
R1807:D7Ertd443e	UTSW	7	133,895,034 (GRCm39)	missense	probably null	1.00
R2050:D7Ertd443e	UTSW	7	133,868,527 (GRCm39)	missense	probably damaging	1.00
R2273:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R2504:D7Ertd443e	UTSW	7	133,951,208 (GRCm39)	splice site	probably null
R3699:D7Ertd443e	UTSW	7	133,950,797 (GRCm39)	missense	probably damaging	1.00
R4348:D7Ertd443e	UTSW	7	133,950,682 (GRCm39)	frame shift	probably null
R4516:D7Ertd443e	UTSW	7	133,895,057 (GRCm39)	missense	probably damaging	1.00
R5123:D7Ertd443e	UTSW	7	133,951,397 (GRCm39)	splice site	probably null
R5440:D7Ertd443e	UTSW	7	133,951,004 (GRCm39)	missense	probably damaging	0.96
R5555:D7Ertd443e	UTSW	7	133,951,320 (GRCm39)	missense	probably benign	0.00
R5711:D7Ertd443e	UTSW	7	133,951,110 (GRCm39)	missense	probably benign	0.43
R5848:D7Ertd443e	UTSW	7	133,951,451 (GRCm39)	missense	possibly damaging	0.92
R6049:D7Ertd443e	UTSW	7	133,899,961 (GRCm39)	missense	probably benign	0.01
R6266:D7Ertd443e	UTSW	7	133,951,514 (GRCm39)	missense	probably damaging	1.00
R6408:D7Ertd443e	UTSW	7	133,951,440 (GRCm39)	missense	probably benign	0.27
R6939:D7Ertd443e	UTSW	7	133,966,208 (GRCm39)	splice site	probably null
R7195:D7Ertd443e	UTSW	7	133,896,851 (GRCm39)	missense	probably damaging	1.00
R7352:D7Ertd443e	UTSW	7	133,951,123 (GRCm39)	missense	probably benign	0.03
R7737:D7Ertd443e	UTSW	7	133,871,930 (GRCm39)	missense	probably damaging	1.00
R7843:D7Ertd443e	UTSW	7	133,950,824 (GRCm39)	missense	possibly damaging	0.93
R7845:D7Ertd443e	UTSW	7	133,871,977 (GRCm39)	missense	probably damaging	1.00
R8346:D7Ertd443e	UTSW	7	133,950,485 (GRCm39)	missense	possibly damaging	0.63
R9120:D7Ertd443e	UTSW	7	133,871,986 (GRCm39)	missense	probably damaging	1.00
R9166:D7Ertd443e	UTSW	7	133,900,048 (GRCm39)	missense	probably benign	0.01
R9773:D7Ertd443e	UTSW	7	133,959,803 (GRCm39)	missense	probably benign	0.00
Z1088:D7Ertd443e	UTSW	7	133,896,711 (GRCm39)	missense	probably benign	0.03

Predicted Primers

PCR Primer
(F):5'- ACATTCCGAGGCACAGTTC -3'
(R):5'- GGATGGTCAATTGGAACCCAC -3'

Sequencing Primer
(F):5'- GGCACAGTTCGACAACTTTG -3'
(R):5'- AACCCACAGTATTTGTCTCGGGATG -3'

Posted On

2014-10-30