Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00494:Ralgapa1'

4414

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ralgapa1

Ensembl Gene

ENSMUSG00000021027

Gene Name

Ral GTPase activating protein, alpha subunit 1

Synonyms

Garnl1, 4930400K19Rik, Tulip1, 2310003F20Rik

Accession Numbers

Essential gene?

Probably essential (E-score: 0.802) question?

Stock #

IGL00494

Quality Score

Status

Chromosome

Chromosomal Location

55649681-55867952 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 55793970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 555 (D555A)

Ref Sequence

ENSEMBL: ENSMUSP00000151498 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000085385] [ENSMUST00000110687] [ENSMUST00000219432] [ENSMUST00000220367] [ENSMUST00000226244]

AlphaFold

Q6GYP7

Predicted Effect

probably damaging
Transcript: ENSMUST00000085385
AA Change: D555A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000082503
Gene: ENSMUSG00000021027
AA Change: D555A

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2003	7.4e-66	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000110687
AA Change: D555A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000106315
Gene: ENSMUSG00000021027
AA Change: D555A

Domain	Start	End	E-Value	Type
low complexity region	644	651	N/A	INTRINSIC
low complexity region	676	690	N/A	INTRINSIC
low complexity region	692	704	N/A	INTRINSIC
low complexity region	894	915	N/A	INTRINSIC
low complexity region	1386	1395	N/A	INTRINSIC
low complexity region	1784	1798	N/A	INTRINSIC
Pfam:Rap_GAP	1824	2001	1.9e-48	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000219432
AA Change: D555A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219529

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000219542

Predicted Effect

probably damaging
Transcript: ENSMUST00000220367
AA Change: D555A

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000226244
AA Change: D555A

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a major subunit of the RAL-GTPase activating protein. A similar protein in mouse binds E12, a transcriptional regulator of immunoglobulin genes. The mouse protein also functions in skeletal muscle by binding to the regulatory 14-3-3 proteins upon stimulation with insulin or muscle contraction. A pseudogene of this gene has been identified on chromosome 9. [provided by RefSeq, Oct 2016]

Allele List at MGI

Other mutations in this stock

Total: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2m	A	G	6: 121,621,108 (GRCm39)	T271A	possibly damaging	Het
Amer3	A	G	1: 34,627,608 (GRCm39)	T616A	probably benign	Het
Cacna1d	A	T	14: 29,818,907 (GRCm39)	M1216K	probably damaging	Het
Clec16a	A	T	16: 10,413,760 (GRCm39)	K389M	probably damaging	Het
Grin2b	T	G	6: 135,713,329 (GRCm39)	M851L	possibly damaging	Het
Hapln1	T	C	13: 89,753,590 (GRCm39)	V252A	probably benign	Het
Hspa13	A	G	16: 75,554,880 (GRCm39)	V402A	possibly damaging	Het
Lrfn1	T	C	7: 28,159,442 (GRCm39)	Y454H	probably damaging	Het
Map3k21	G	A	8: 126,671,412 (GRCm39)	S900N	possibly damaging	Het
Mdm1	C	A	10: 118,000,346 (GRCm39)	H615N	probably damaging	Het
Meak7	T	C	8: 120,499,334 (GRCm39)	K53E	probably benign	Het
Nabp1	A	T	1: 51,516,687 (GRCm39)	D60E	probably damaging	Het
Nmur1	T	C	1: 86,314,084 (GRCm39)	E361G	probably benign	Het
Pms1	A	G	1: 53,245,715 (GRCm39)		probably benign	Het
Rbbp4	T	C	4: 129,203,946 (GRCm39)	E406G	probably benign	Het
Rp1l1	T	A	14: 64,266,174 (GRCm39)	C587S	probably benign	Het
Sez6l	A	T	5: 112,610,869 (GRCm39)	N516K	probably damaging	Het
Taar7e	T	C	10: 23,914,038 (GRCm39)	I176T	probably benign	Het
Tex14	G	T	11: 87,446,310 (GRCm39)	R1439S	probably damaging	Het
Tle3	T	A	9: 61,316,039 (GRCm39)		probably benign	Het
Xntrpc	T	A	7: 101,736,754 (GRCm39)	L327Q	probably damaging	Het

Other mutations in Ralgapa1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00089:Ralgapa1	APN	12	55,769,558 (GRCm39)	missense	probably damaging	0.98
IGL00731:Ralgapa1	APN	12	55,749,237 (GRCm39)	missense	possibly damaging	0.94
IGL00851:Ralgapa1	APN	12	55,756,360 (GRCm39)	missense	possibly damaging	0.93
IGL01133:Ralgapa1	APN	12	55,689,144 (GRCm39)	missense	probably damaging	0.99
IGL01133:Ralgapa1	APN	12	55,689,133 (GRCm39)	missense	probably damaging	1.00
IGL01354:Ralgapa1	APN	12	55,824,101 (GRCm39)	missense	possibly damaging	0.68
IGL01514:Ralgapa1	APN	12	55,766,442 (GRCm39)	missense	probably damaging	0.97
IGL02033:Ralgapa1	APN	12	55,689,262 (GRCm39)	missense	possibly damaging	0.69
IGL02064:Ralgapa1	APN	12	55,754,862 (GRCm39)	missense	probably damaging	1.00
IGL02556:Ralgapa1	APN	12	55,689,234 (GRCm39)	missense	possibly damaging	0.80
IGL02605:Ralgapa1	APN	12	55,759,450 (GRCm39)	missense	possibly damaging	0.90
IGL02657:Ralgapa1	APN	12	55,720,292 (GRCm39)	missense	probably damaging	1.00
IGL02676:Ralgapa1	APN	12	55,723,202 (GRCm39)	missense	probably damaging	1.00
IGL02894:Ralgapa1	APN	12	55,763,854 (GRCm39)	missense	possibly damaging	0.79
IGL02944:Ralgapa1	APN	12	55,804,736 (GRCm39)	missense	probably benign	0.01
Anhydrous	UTSW	12	55,842,563 (GRCm39)	critical splice acceptor site	probably null
Aqueous	UTSW	12	55,745,639 (GRCm39)	missense	probably damaging	1.00
bantam	UTSW	12	55,769,558 (GRCm39)	critical splice donor site	probably null
Deliquescent	UTSW	12	55,829,685 (GRCm39)	splice site	probably benign
wickedwarlock	UTSW	12	55,824,077 (GRCm39)	missense	probably null	0.99
F5770:Ralgapa1	UTSW	12	55,842,438 (GRCm39)	splice site	probably benign
IGL03046:Ralgapa1	UTSW	12	55,741,942 (GRCm39)	missense	probably damaging	1.00
R0011:Ralgapa1	UTSW	12	55,833,048 (GRCm39)	missense	probably damaging	0.99
R0096:Ralgapa1	UTSW	12	55,786,290 (GRCm39)	missense	probably damaging	1.00
R0277:Ralgapa1	UTSW	12	55,724,023 (GRCm39)	missense	probably damaging	0.99
R0323:Ralgapa1	UTSW	12	55,724,023 (GRCm39)	missense	probably damaging	0.99
R0333:Ralgapa1	UTSW	12	55,829,685 (GRCm39)	splice site	probably benign
R0361:Ralgapa1	UTSW	12	55,723,354 (GRCm39)	missense	possibly damaging	0.93
R0385:Ralgapa1	UTSW	12	55,723,823 (GRCm39)	missense	probably damaging	1.00
R0386:Ralgapa1	UTSW	12	55,754,852 (GRCm39)	missense	probably benign	0.03
R0498:Ralgapa1	UTSW	12	55,736,576 (GRCm39)	missense	possibly damaging	0.66
R0552:Ralgapa1	UTSW	12	55,723,550 (GRCm39)	missense	probably benign	0.27
R0564:Ralgapa1	UTSW	12	55,829,670 (GRCm39)	missense	possibly damaging	0.84
R0611:Ralgapa1	UTSW	12	55,842,483 (GRCm39)	missense	probably damaging	0.99
R0730:Ralgapa1	UTSW	12	55,712,448 (GRCm39)	missense	probably damaging	1.00
R0741:Ralgapa1	UTSW	12	55,723,366 (GRCm39)	missense	probably damaging	0.99
R0815:Ralgapa1	UTSW	12	55,829,562 (GRCm39)	splice site	probably benign
R0815:Ralgapa1	UTSW	12	55,809,466 (GRCm39)	nonsense	probably null
R0863:Ralgapa1	UTSW	12	55,829,562 (GRCm39)	splice site	probably benign
R0863:Ralgapa1	UTSW	12	55,809,466 (GRCm39)	nonsense	probably null
R1068:Ralgapa1	UTSW	12	55,837,095 (GRCm39)	critical splice donor site	probably null
R1147:Ralgapa1	UTSW	12	55,749,265 (GRCm39)	missense	probably damaging	1.00
R1147:Ralgapa1	UTSW	12	55,749,265 (GRCm39)	missense	probably damaging	1.00
R1256:Ralgapa1	UTSW	12	55,809,446 (GRCm39)	missense	possibly damaging	0.94
R1343:Ralgapa1	UTSW	12	55,754,763 (GRCm39)	missense	probably damaging	1.00
R1378:Ralgapa1	UTSW	12	55,723,711 (GRCm39)	missense	probably damaging	1.00
R1474:Ralgapa1	UTSW	12	55,788,265 (GRCm39)	missense	probably benign	0.09
R1494:Ralgapa1	UTSW	12	55,731,309 (GRCm39)	missense	probably damaging	0.99
R1593:Ralgapa1	UTSW	12	55,817,488 (GRCm39)	missense	probably damaging	1.00
R1607:Ralgapa1	UTSW	12	55,788,321 (GRCm39)	missense	probably damaging	1.00
R1681:Ralgapa1	UTSW	12	55,809,388 (GRCm39)	missense	probably benign	0.35
R1689:Ralgapa1	UTSW	12	55,723,552 (GRCm39)	missense	possibly damaging	0.79
R1714:Ralgapa1	UTSW	12	55,689,174 (GRCm39)	missense	probably damaging	1.00
R1832:Ralgapa1	UTSW	12	55,804,752 (GRCm39)	missense	probably benign	0.03
R1870:Ralgapa1	UTSW	12	55,723,817 (GRCm39)	missense	possibly damaging	0.66
R2040:Ralgapa1	UTSW	12	55,833,107 (GRCm39)	missense	probably damaging	1.00
R2043:Ralgapa1	UTSW	12	55,723,811 (GRCm39)	missense	probably damaging	0.99
R2046:Ralgapa1	UTSW	12	55,741,945 (GRCm39)	missense	probably damaging	1.00
R2109:Ralgapa1	UTSW	12	55,822,973 (GRCm39)	missense	possibly damaging	0.90
R2114:Ralgapa1	UTSW	12	55,833,134 (GRCm39)	critical splice acceptor site	probably null
R2115:Ralgapa1	UTSW	12	55,833,134 (GRCm39)	critical splice acceptor site	probably null
R2202:Ralgapa1	UTSW	12	55,659,585 (GRCm39)	splice site	probably null
R2203:Ralgapa1	UTSW	12	55,659,585 (GRCm39)	splice site	probably null
R2233:Ralgapa1	UTSW	12	55,763,856 (GRCm39)	missense	probably benign	0.13
R2235:Ralgapa1	UTSW	12	55,763,856 (GRCm39)	missense	probably benign	0.13
R2341:Ralgapa1	UTSW	12	55,723,909 (GRCm39)	missense	possibly damaging	0.66
R2507:Ralgapa1	UTSW	12	55,764,986 (GRCm39)	missense	probably damaging	1.00
R2508:Ralgapa1	UTSW	12	55,764,986 (GRCm39)	missense	probably damaging	1.00
R2972:Ralgapa1	UTSW	12	55,867,540 (GRCm39)	missense	possibly damaging	0.61
R3160:Ralgapa1	UTSW	12	55,756,371 (GRCm39)	missense	probably damaging	1.00
R3162:Ralgapa1	UTSW	12	55,756,371 (GRCm39)	missense	probably damaging	1.00
R3401:Ralgapa1	UTSW	12	55,705,922 (GRCm39)	missense	possibly damaging	0.66
R3416:Ralgapa1	UTSW	12	55,817,398 (GRCm39)	splice site	probably benign
R3499:Ralgapa1	UTSW	12	55,741,928 (GRCm39)	splice site	probably benign
R3799:Ralgapa1	UTSW	12	55,705,915 (GRCm39)	missense	probably damaging	1.00
R3948:Ralgapa1	UTSW	12	55,745,552 (GRCm39)	missense	probably damaging	1.00
R4039:Ralgapa1	UTSW	12	55,842,486 (GRCm39)	missense	probably damaging	0.99
R4120:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4165:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4166:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4212:Ralgapa1	UTSW	12	55,786,115 (GRCm39)	critical splice donor site	probably null
R4232:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4233:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4234:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4235:Ralgapa1	UTSW	12	55,687,429 (GRCm39)	missense	probably damaging	1.00
R4399:Ralgapa1	UTSW	12	55,842,563 (GRCm39)	critical splice acceptor site	probably null
R4698:Ralgapa1	UTSW	12	55,724,061 (GRCm39)	splice site	probably null
R4715:Ralgapa1	UTSW	12	55,740,243 (GRCm39)	missense	probably damaging	1.00
R4755:Ralgapa1	UTSW	12	55,759,533 (GRCm39)	missense	probably damaging	1.00
R4810:Ralgapa1	UTSW	12	55,841,778 (GRCm39)	critical splice donor site	probably null
R4827:Ralgapa1	UTSW	12	55,723,222 (GRCm39)	missense	probably damaging	1.00
R4849:Ralgapa1	UTSW	12	55,745,588 (GRCm39)	missense	probably damaging	0.99
R4934:Ralgapa1	UTSW	12	55,809,359 (GRCm39)	missense	possibly damaging	0.94
R5006:Ralgapa1	UTSW	12	55,764,899 (GRCm39)	missense	probably benign	0.02
R5114:Ralgapa1	UTSW	12	55,659,508 (GRCm39)	missense	possibly damaging	0.84
R5140:Ralgapa1	UTSW	12	55,712,459 (GRCm39)	missense	probably damaging	1.00
R5140:Ralgapa1	UTSW	12	55,822,937 (GRCm39)	missense	probably damaging	1.00
R5168:Ralgapa1	UTSW	12	55,804,817 (GRCm39)	missense	probably benign	0.05
R5407:Ralgapa1	UTSW	12	55,723,582 (GRCm39)	missense	possibly damaging	0.93
R5441:Ralgapa1	UTSW	12	55,766,408 (GRCm39)	missense	probably damaging	1.00
R5473:Ralgapa1	UTSW	12	55,723,495 (GRCm39)	missense	probably benign	0.41
R5624:Ralgapa1	UTSW	12	55,659,523 (GRCm39)	missense	probably damaging	1.00
R5766:Ralgapa1	UTSW	12	55,867,551 (GRCm39)	start codon destroyed	probably null	0.99
R5826:Ralgapa1	UTSW	12	55,723,898 (GRCm39)	missense	probably damaging	1.00
R5950:Ralgapa1	UTSW	12	55,785,050 (GRCm39)	missense	possibly damaging	0.58
R5980:Ralgapa1	UTSW	12	55,817,401 (GRCm39)	splice site	probably null
R6019:Ralgapa1	UTSW	12	55,730,827 (GRCm39)	missense	possibly damaging	0.92
R6065:Ralgapa1	UTSW	12	55,804,709 (GRCm39)	critical splice donor site	probably null
R6326:Ralgapa1	UTSW	12	55,793,931 (GRCm39)	missense	probably damaging	1.00
R6355:Ralgapa1	UTSW	12	55,745,639 (GRCm39)	missense	probably damaging	1.00
R6408:Ralgapa1	UTSW	12	55,730,695 (GRCm39)	nonsense	probably null
R6448:Ralgapa1	UTSW	12	55,766,446 (GRCm39)	missense	probably benign	0.14
R6453:Ralgapa1	UTSW	12	55,785,104 (GRCm39)	missense	probably damaging	1.00
R6590:Ralgapa1	UTSW	12	55,769,558 (GRCm39)	critical splice donor site	probably null
R6690:Ralgapa1	UTSW	12	55,769,558 (GRCm39)	critical splice donor site	probably null
R6738:Ralgapa1	UTSW	12	55,809,512 (GRCm39)	missense	probably damaging	1.00
R6836:Ralgapa1	UTSW	12	55,651,058 (GRCm39)	splice site	probably null
R6936:Ralgapa1	UTSW	12	55,832,997 (GRCm39)	missense	probably damaging	0.99
R6945:Ralgapa1	UTSW	12	55,822,976 (GRCm39)	missense	possibly damaging	0.64
R7028:Ralgapa1	UTSW	12	55,804,844 (GRCm39)	missense	probably damaging	1.00
R7075:Ralgapa1	UTSW	12	55,867,508 (GRCm39)	missense	possibly damaging	0.66
R7076:Ralgapa1	UTSW	12	55,768,361 (GRCm39)	missense	possibly damaging	0.82
R7098:Ralgapa1	UTSW	12	55,837,095 (GRCm39)	critical splice donor site	probably null
R7231:Ralgapa1	UTSW	12	55,650,976 (GRCm39)	missense	probably damaging	1.00
R7254:Ralgapa1	UTSW	12	55,741,978 (GRCm39)	missense	probably damaging	1.00
R7326:Ralgapa1	UTSW	12	55,755,789 (GRCm39)	missense	probably damaging	1.00
R7485:Ralgapa1	UTSW	12	55,759,457 (GRCm39)	missense	probably damaging	1.00
R7580:Ralgapa1	UTSW	12	55,765,013 (GRCm39)	missense	probably benign	0.00
R7677:Ralgapa1	UTSW	12	55,705,928 (GRCm39)	missense	probably damaging	0.96
R7702:Ralgapa1	UTSW	12	55,756,341 (GRCm39)	missense	probably damaging	1.00
R7702:Ralgapa1	UTSW	12	55,756,340 (GRCm39)	missense	probably damaging	1.00
R7707:Ralgapa1	UTSW	12	55,824,077 (GRCm39)	missense	probably null	0.99
R7723:Ralgapa1	UTSW	12	55,788,298 (GRCm39)	missense	probably benign
R7763:Ralgapa1	UTSW	12	55,804,740 (GRCm39)	missense	probably benign	0.28
R7791:Ralgapa1	UTSW	12	55,788,304 (GRCm39)	missense	probably damaging	0.97
R7812:Ralgapa1	UTSW	12	55,766,413 (GRCm39)	missense	possibly damaging	0.67
R7868:Ralgapa1	UTSW	12	55,659,423 (GRCm39)	missense	probably benign	0.00
R7895:Ralgapa1	UTSW	12	55,793,934 (GRCm39)	missense	probably benign	0.44
R7896:Ralgapa1	UTSW	12	55,744,663 (GRCm39)	missense	probably benign	0.01
R8004:Ralgapa1	UTSW	12	55,749,242 (GRCm39)	missense	probably damaging	0.99
R8094:Ralgapa1	UTSW	12	55,829,631 (GRCm39)	missense	probably damaging	0.99
R8213:Ralgapa1	UTSW	12	55,769,699 (GRCm39)	missense	probably damaging	0.99
R8307:Ralgapa1	UTSW	12	55,788,308 (GRCm39)	missense	probably damaging	0.99
R8423:Ralgapa1	UTSW	12	55,705,847 (GRCm39)	missense	probably damaging	0.99
R8462:Ralgapa1	UTSW	12	55,723,303 (GRCm39)	missense	possibly damaging	0.90
R8469:Ralgapa1	UTSW	12	55,786,198 (GRCm39)	missense	probably damaging	1.00
R8675:Ralgapa1	UTSW	12	55,785,002 (GRCm39)	missense	possibly damaging	0.93
R8802:Ralgapa1	UTSW	12	55,785,101 (GRCm39)	missense	probably damaging	0.99
R8937:Ralgapa1	UTSW	12	55,749,345 (GRCm39)	missense	probably damaging	0.96
R8953:Ralgapa1	UTSW	12	55,867,546 (GRCm39)	missense	probably damaging	0.99
R8974:Ralgapa1	UTSW	12	55,723,791 (GRCm39)	missense	probably benign
R9011:Ralgapa1	UTSW	12	55,652,314 (GRCm39)	intron	probably benign
R9089:Ralgapa1	UTSW	12	55,723,351 (GRCm39)	missense	probably damaging	0.97
R9124:Ralgapa1	UTSW	12	55,781,881 (GRCm39)	missense	probably damaging	1.00
R9254:Ralgapa1	UTSW	12	55,769,583 (GRCm39)	missense	probably damaging	1.00
R9320:Ralgapa1	UTSW	12	55,755,843 (GRCm39)	missense	possibly damaging	0.59
R9379:Ralgapa1	UTSW	12	55,769,583 (GRCm39)	missense	probably damaging	1.00
R9446:Ralgapa1	UTSW	12	55,754,808 (GRCm39)	missense	probably damaging	0.97
R9684:Ralgapa1	UTSW	12	55,659,485 (GRCm39)	missense	possibly damaging	0.63
Z1176:Ralgapa1	UTSW	12	55,755,865 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20