Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02437:A930011G23Rik'

293293

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

A930011G23Rik

Ensembl Gene

ENSMUSG00000089809

Gene Name

RIKEN cDNA A930011G23 gene

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.119) question?

Stock #

IGL02437

Quality Score

Status

Chromosome

Chromosomal Location

99445103-99876919 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 99377241 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Leucine at position 402 (P402L)

Ref Sequence

ENSEMBL: ENSMUSP00000147997 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031276] [ENSMUST00000166484] [ENSMUST00000168092] [ENSMUST00000209346]

AlphaFold

Q8JZL7

Predicted Effect

probably damaging
Transcript: ENSMUST00000031276
AA Change: P316L

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000031276
Gene: ENSMUSG00000089809
AA Change: P316L

Domain	Start	End	E-Value	Type
RasGEFN	33	157	5.22e-4	SMART
RasGEF	201	454	3.26e-68	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000166484
AA Change: P274L

PolyPhen 2 Score 0.341 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000128947
Gene: ENSMUSG00000089809
AA Change: P274L

Domain	Start	End	E-Value	Type
Blast:RasGEFN	33	123	6e-50	BLAST
RasGEF	159	412	3.26e-68	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000166632

Predicted Effect

probably damaging
Transcript: ENSMUST00000168092
AA Change: P315L

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000129652
Gene: ENSMUSG00000089809
AA Change: P315L

Domain	Start	End	E-Value	Type
RasGEFN	33	157	2.8e-4	SMART
RasGEF	200	453	3.26e-68	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000209346
AA Change: P402L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca16	T	G	7: 120,132,952 (GRCm39)	C1294G	probably benign	Het
Abca7	T	A	10: 79,844,223 (GRCm39)	S1410T	probably damaging	Het
Abhd12	T	C	2: 150,676,289 (GRCm39)	D356G	probably benign	Het
BC004004	T	C	17: 29,517,671 (GRCm39)	L295P	probably damaging	Het
Bpifc	T	C	10: 85,824,595 (GRCm39)	S215G	probably damaging	Het
Bptf	C	T	11: 106,965,521 (GRCm39)	M1109I	probably benign	Het
Brat1	C	T	5: 140,698,563 (GRCm39)	A245V	possibly damaging	Het
Cask	G	A	X: 13,403,860 (GRCm39)	T16I	probably damaging	Het
Cemip2	T	C	19: 21,789,342 (GRCm39)		probably null	Het
Cibar2	T	C	8: 120,901,525 (GRCm39)	E60G	probably damaging	Het
Clic6	A	T	16: 92,327,817 (GRCm39)	I541F	probably damaging	Het
Clnk	C	T	5: 38,931,909 (GRCm39)		probably null	Het
Cntnap1	T	A	11: 101,077,677 (GRCm39)	I1113N	probably damaging	Het
Csgalnact1	C	A	8: 68,854,144 (GRCm39)	G219V	probably damaging	Het
Cyp26a1	T	C	19: 37,686,943 (GRCm39)	S132P	probably benign	Het
Cyp4f13	G	T	17: 33,149,582 (GRCm39)	H85N	probably benign	Het
Dcaf15	C	T	8: 84,828,445 (GRCm39)	G215D	probably damaging	Het
Dip2a	T	C	10: 76,134,101 (GRCm39)	T500A	probably benign	Het
Gbe1	T	A	16: 70,231,546 (GRCm39)		probably benign	Het
Gli2	T	A	1: 118,763,733 (GRCm39)	I1473F	probably damaging	Het
Gm5129	A	T	5: 29,940,861 (GRCm39)		probably benign	Het
Hdgf	C	T	3: 87,821,792 (GRCm39)	R168C	probably damaging	Het
Heph	A	G	X: 95,516,633 (GRCm39)	T342A	probably benign	Het
Kdelr3	T	C	15: 79,409,988 (GRCm39)	Y158H	probably damaging	Het
Lamb3	C	T	1: 193,010,253 (GRCm39)	R289C	probably damaging	Het
Leng8	C	T	7: 4,145,092 (GRCm39)	A164V	probably damaging	Het
Ltn1	T	C	16: 87,194,889 (GRCm39)	T1337A	probably benign	Het
Mast3	C	A	8: 71,233,202 (GRCm39)	R316L	possibly damaging	Het
Nampt	A	G	12: 32,880,215 (GRCm39)	Y36C	probably damaging	Het
Ncapd3	T	A	9: 26,975,264 (GRCm39)		probably benign	Het
Nipbl	T	C	15: 8,388,558 (GRCm39)	D354G	probably damaging	Het
Nsd1	A	T	13: 55,461,254 (GRCm39)	R2494W	probably damaging	Het
Nt5c1a	A	G	4: 123,108,034 (GRCm39)	N239S	probably benign	Het
Ogfr	A	G	2: 180,231,329 (GRCm39)	E19G	possibly damaging	Het
Or11h4b	A	T	14: 50,918,657 (GRCm39)	S145T	probably benign	Het
Or4c58	A	G	2: 89,675,128 (GRCm39)	L63P	probably damaging	Het
Pcna	A	T	2: 132,093,155 (GRCm39)		probably benign	Het
Pdia3	T	A	2: 121,264,129 (GRCm39)	V326E	probably damaging	Het
Phf8	T	A	X: 150,414,356 (GRCm39)	L1002Q	possibly damaging	Het
Rhobtb2	T	C	14: 70,033,365 (GRCm39)	E535G	probably damaging	Het
Rusc2	G	T	4: 43,415,545 (GRCm39)	D284Y	probably damaging	Het
Samd8	A	G	14: 21,825,491 (GRCm39)	Y212C	probably benign	Het
Sash3	C	A	X: 47,247,672 (GRCm39)	Q169K	probably benign	Het
Scyl1	C	T	19: 5,816,224 (GRCm39)	G324S	probably damaging	Het
Sec62	G	A	3: 30,872,996 (GRCm39)	G360R	unknown	Het
Sis	T	C	3: 72,826,947 (GRCm39)		probably null	Het
Slc6a1	T	A	6: 114,285,578 (GRCm39)	I338N	probably damaging	Het
Snrnp200	A	G	2: 127,058,030 (GRCm39)	D264G	probably damaging	Het
Tgm3	G	T	2: 129,871,961 (GRCm39)		probably null	Het
Tnrc6b	T	G	15: 80,764,658 (GRCm39)	L720R	probably damaging	Het
Tspyl4	A	T	10: 34,174,228 (GRCm39)	Q240L	probably damaging	Het
Tube1	G	A	10: 39,016,846 (GRCm39)	V80I	probably damaging	Het
Uap1l1	C	T	2: 25,253,945 (GRCm39)	V304M	probably damaging	Het
Wtap	T	C	17: 13,186,620 (GRCm39)	N309S	probably benign	Het
Zfp518a	G	A	19: 40,903,061 (GRCm39)	G997R	probably damaging	Het
Zfyve26	T	C	12: 79,315,621 (GRCm39)	D1285G	probably benign	Het
Zscan20	G	A	4: 128,482,210 (GRCm39)	T484I	probably damaging	Het

Other mutations in A930011G23Rik

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00509:A930011G23Rik	APN	5	99,391,102 (GRCm39)	splice site	probably null
IGL00536:A930011G23Rik	APN	5	99,370,242 (GRCm39)	missense	probably damaging	1.00
IGL00848:A930011G23Rik	APN	5	99,370,237 (GRCm39)	missense	probably damaging	1.00
IGL01400:A930011G23Rik	APN	5	99,390,960 (GRCm39)	missense	probably damaging	1.00
IGL02421:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02421:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02422:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02422:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02423:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02423:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02424:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02424:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02427:A930011G23Rik	APN	5	99,381,829 (GRCm39)	missense	probably damaging	1.00
IGL02437:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02473:A930011G23Rik	APN	5	99,370,854 (GRCm39)	missense	probably damaging	1.00
IGL02498:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02498:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02499:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02499:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02537:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02537:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02609:A930011G23Rik	APN	5	99,381,854 (GRCm39)	splice site	probably benign
IGL02735:A930011G23Rik	APN	5	99,377,236 (GRCm39)	missense	probably damaging	1.00
IGL02735:A930011G23Rik	APN	5	99,377,241 (GRCm39)	missense	probably damaging	1.00
IGL02975:A930011G23Rik	APN	5	99,381,784 (GRCm39)	missense	possibly damaging	0.81
IGL03129:A930011G23Rik	APN	5	99,377,238 (GRCm39)	missense	probably damaging	0.98
IGL03139:A930011G23Rik	APN	5	99,391,067 (GRCm39)	missense	probably benign	0.00
IGL03239:A930011G23Rik	APN	5	99,381,835 (GRCm39)	missense	probably damaging	1.00
IGL03295:A930011G23Rik	APN	5	99,390,915 (GRCm39)	splice site	probably benign
R0011:A930011G23Rik	UTSW	5	99,380,213 (GRCm39)	missense	probably damaging	1.00
R0738:A930011G23Rik	UTSW	5	99,388,812 (GRCm39)	missense	probably benign	0.08
R0840:A930011G23Rik	UTSW	5	99,382,547 (GRCm39)	missense	probably benign	0.00
R1779:A930011G23Rik	UTSW	5	99,370,897 (GRCm39)	splice site	probably benign
R1799:A930011G23Rik	UTSW	5	99,382,435 (GRCm39)	missense	probably benign	0.01
R1992:A930011G23Rik	UTSW	5	99,381,784 (GRCm39)	missense	possibly damaging	0.81
R2054:A930011G23Rik	UTSW	5	99,375,914 (GRCm39)	missense	probably benign	0.01
R2157:A930011G23Rik	UTSW	5	99,379,956 (GRCm39)	missense	probably damaging	0.99
R2184:A930011G23Rik	UTSW	5	99,380,228 (GRCm39)	missense	possibly damaging	0.69
R4565:A930011G23Rik	UTSW	5	99,375,806 (GRCm39)	intron	probably benign
R4930:A930011G23Rik	UTSW	5	99,370,263 (GRCm39)	missense	possibly damaging	0.81
R5065:A930011G23Rik	UTSW	5	99,382,432 (GRCm39)	missense	probably benign	0.18
R5739:A930011G23Rik	UTSW	5	99,369,289 (GRCm39)	missense	probably damaging	1.00
R5806:A930011G23Rik	UTSW	5	99,388,731 (GRCm39)	missense	probably benign	0.05
R8228:A930011G23Rik	UTSW	5	99,524,980 (GRCm39)	missense	probably damaging	0.96

Posted On

2015-04-16