Mutagenetix > Incidental Mutation

Incidental Mutation 'R1744:D7Ertd443e'

200589

Institutional Source

Beutler Lab

Gene Symbol

D7Ertd443e

Ensembl Gene

ENSMUSG00000030994

Gene Name

DNA segment, Chr 7, ERATO Doi 443, expressed

Synonyms

4933400E14Rik

MMRRC Submission

039776-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1744 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

133867508-134102889 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 133951142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 177 (V177A)

Ref Sequence

ENSEMBL: ENSMUSP00000134479 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000094002] [ENSMUST00000172947] [ENSMUST00000173195] [ENSMUST00000173754] [ENSMUST00000174700]

AlphaFold

D2J0Y4

Predicted Effect

probably benign
Transcript: ENSMUST00000094002
AA Change: V130A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000091539
Gene: ENSMUSG00000030994
AA Change: V130A

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 benign
Transcript: ENSMUST00000172947
AA Change: V177A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000134479
Gene: ENSMUSG00000030994
AA Change: V177A

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

probably benign
Transcript: ENSMUST00000173195

Predicted Effect

probably benign
Transcript: ENSMUST00000173754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174271

Predicted Effect

probably benign
Transcript: ENSMUST00000174700

SMART Domains

Protein: ENSMUSP00000134411
Gene: ENSMUSG00000030994

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 97.4%
3x: 96.8%
10x: 95.1%
20x: 91.8%

Validation Efficiency

98% (59/60)

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	A	G	5: 81,942,267 (GRCm39)	E1247G	probably damaging	Het
Bcl2l15	T	A	3: 103,745,856 (GRCm39)	L165Q	probably damaging	Het
Cd163	C	A	6: 124,283,987 (GRCm39)	A53E	possibly damaging	Het
Cemip2	C	A	19: 21,809,501 (GRCm39)	Y960*	probably null	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Clca3a1	G	T	3: 144,452,596 (GRCm39)	A629D	probably damaging	Het
Csde1	T	A	3: 102,957,631 (GRCm39)	S463R	probably benign	Het
Cth	C	G	3: 157,611,905 (GRCm39)	R304P	probably damaging	Het
Ddx56	G	A	11: 6,216,396 (GRCm39)	R189W	probably damaging	Het
Dennd2a	A	T	6: 39,457,185 (GRCm39)	F752L	probably benign	Het
Gabrp	A	T	11: 33,522,462 (GRCm39)	V28E	probably benign	Het
Gpam	T	C	19: 55,063,023 (GRCm39)	E763G	probably damaging	Het
Hars1	G	A	18: 36,903,885 (GRCm39)	R266C	probably benign	Het
Klf7	C	A	1: 64,118,372 (GRCm39)	R75L	possibly damaging	Het
Kmt2d	T	C	15: 98,762,928 (GRCm39)	K281E	probably damaging	Het
Lbx1	T	C	19: 45,222,652 (GRCm39)	K124E	probably damaging	Het
Lcp2	T	C	11: 34,019,911 (GRCm39)		probably null	Het
Mab21l2	T	C	3: 86,454,211 (GRCm39)	E263G	possibly damaging	Het
Macf1	A	T	4: 123,369,646 (GRCm39)	I140K	probably damaging	Het
Mcemp1	G	A	8: 3,716,054 (GRCm39)	A20T	probably damaging	Het
Met	T	C	6: 17,540,645 (GRCm39)	V137A	possibly damaging	Het
Mgat5	T	C	1: 127,407,206 (GRCm39)	F624S	probably damaging	Het
Nutm2	T	C	13: 50,623,390 (GRCm39)	I29T	probably benign	Het
Ociad1	T	C	5: 73,458,062 (GRCm39)		probably null	Het
Ogfod2	G	A	5: 124,252,219 (GRCm39)		probably null	Het
Or6c69	A	C	10: 129,747,262 (GRCm39)	V295G	probably damaging	Het
Or8g4	A	C	9: 39,661,711 (GRCm39)	T10P	probably benign	Het
Otoa	G	A	7: 120,726,999 (GRCm39)		probably benign	Het
Otud3	A	C	4: 138,623,059 (GRCm39)	L394R	probably damaging	Het
Pde5a	T	C	3: 122,541,546 (GRCm39)	V12A	probably damaging	Het
Plec	C	T	15: 76,070,418 (GRCm39)	V931M	probably damaging	Het
Prr27	A	G	5: 87,990,906 (GRCm39)	I173V	possibly damaging	Het
Psg29	T	C	7: 16,944,278 (GRCm39)	C263R	probably damaging	Het
Ptprm	T	C	17: 66,996,361 (GRCm39)	Y1242C	probably damaging	Het
Retsat	C	T	6: 72,583,558 (GRCm39)	R84*	probably null	Het
Rif1	G	A	2: 52,002,404 (GRCm39)	V1953I	possibly damaging	Het
Ros1	A	T	10: 51,999,475 (GRCm39)	N1137K	probably damaging	Het
Scn1a	T	C	2: 66,152,620 (GRCm39)	H787R	probably benign	Het
Sec16a	T	C	2: 26,329,198 (GRCm39)	E939G	probably damaging	Het
Sh2d4a	G	A	8: 68,783,807 (GRCm39)	G247D	possibly damaging	Het
Siglec1	A	G	2: 130,923,219 (GRCm39)	S509P	probably damaging	Het
Slc25a30	A	G	14: 76,000,770 (GRCm39)	I278T	probably damaging	Het
Slc6a20a	C	T	9: 123,492,058 (GRCm39)	V104I	probably benign	Het
Sp110	G	C	1: 85,522,093 (GRCm39)	T70S	probably benign	Het
Sphkap	G	A	1: 83,255,236 (GRCm39)	R838*	probably null	Het
Stxbp1	A	G	2: 32,696,731 (GRCm39)		probably null	Het
Tmem132b	T	C	5: 125,855,908 (GRCm39)		probably null	Het
Tnfsf13b	G	A	8: 10,081,661 (GRCm39)		probably null	Het
Trappc6a	A	G	7: 19,248,154 (GRCm39)	E38G	probably damaging	Het
Trps1	T	C	15: 50,524,609 (GRCm39)	D857G	probably damaging	Het
Tspear	T	A	10: 77,700,718 (GRCm39)		probably null	Het
Vmn1r23	A	T	6: 57,902,910 (GRCm39)	N289K	possibly damaging	Het
Zcchc8	G	A	5: 123,838,436 (GRCm39)	Q701*	probably null	Het
Zfp618	A	T	4: 63,004,871 (GRCm39)		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
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
R2274: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'- ATGGCATTGGGACACTGCTGAG -3'
(R):5'- AACCGCTGTCTACAGGGGACAATC -3'

Sequencing Primer
(F):5'- ACTGAACACCAGTGGGACTTTTC -3'
(R):5'- TCTAGGCAAAGGTTCCCACAG -3'

Posted On

2014-05-23