Mutagenetix > Incidental Mutation

Incidental Mutation 'R4382:Sipa1l1'

325386

Institutional Source

Beutler Lab

Gene Symbol

Sipa1l1

Ensembl Gene

ENSMUSG00000042700

Gene Name

signal-induced proliferation-associated 1 like 1

Synonyms

Spar, 4931426N11Rik

MMRRC Submission

041679-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4382 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

82216138-82498560 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 82493596 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 1672 (R1672G)

Ref Sequence

ENSEMBL: ENSMUSP00000152212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053969] [ENSMUST00000166429] [ENSMUST00000220963] [ENSMUST00000222298] [ENSMUST00000222714]

AlphaFold

Q8C0T5

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053969
AA Change: R1672G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000061014
Gene: ENSMUSG00000042700
AA Change: R1672G

Domain	Start	End	E-Value	Type
low complexity region	92	129	N/A	INTRINSIC
low complexity region	362	377	N/A	INTRINSIC
low complexity region	430	449	N/A	INTRINSIC
Pfam:Rap_GAP	628	810	8.9e-70	PFAM
PDZ	962	1028	2.63e-9	SMART
low complexity region	1149	1164	N/A	INTRINSIC
low complexity region	1255	1279	N/A	INTRINSIC
low complexity region	1315	1328	N/A	INTRINSIC
low complexity region	1432	1447	N/A	INTRINSIC
Pfam:SPAR_C	1483	1727	4.4e-86	PFAM
low complexity region	1731	1746	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000166429
AA Change: R1672G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000131030
Gene: ENSMUSG00000042700
AA Change: R1672G

Domain	Start	End	E-Value	Type
low complexity region	92	129	N/A	INTRINSIC
low complexity region	362	377	N/A	INTRINSIC
low complexity region	430	449	N/A	INTRINSIC
Pfam:Rap_GAP	628	816	1.3e-64	PFAM
PDZ	962	1028	1.3e-11	SMART
low complexity region	1149	1164	N/A	INTRINSIC
low complexity region	1255	1279	N/A	INTRINSIC
low complexity region	1315	1328	N/A	INTRINSIC
low complexity region	1432	1447	N/A	INTRINSIC
Pfam:DUF3401	1483	1727	1.8e-91	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000220963
AA Change: R1672G

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222298
AA Change: R1672G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

Predicted Effect

possibly damaging
Transcript: ENSMUST00000222714
AA Change: R1672G

PolyPhen 2 Score 0.463 (Sensitivity: 0.89; Specificity: 0.90)

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aadacl4fm2	T	A	4: 144,281,596 (GRCm39)	T399S	possibly damaging	Het
Acp2	T	C	2: 91,038,454 (GRCm39)	S309P	possibly damaging	Het
Adam23	T	C	1: 63,605,787 (GRCm39)	Y624H	probably damaging	Het
B4galnt4	T	C	7: 140,650,449 (GRCm39)	V772A	probably damaging	Het
Boc	A	T	16: 44,311,545 (GRCm39)	L726H	probably damaging	Het
Calr3	T	A	8: 73,182,008 (GRCm39)	D120V	probably damaging	Het
Ccdc92b	G	A	11: 74,520,842 (GRCm39)	S48N	probably damaging	Het
Ceacam12	C	T	7: 17,799,959 (GRCm39)		probably benign	Het
Clca3a1	T	A	3: 144,466,483 (GRCm39)	M1L	probably benign	Het
Cnot1	T	C	8: 96,496,407 (GRCm39)	T300A	probably damaging	Het
Col12a1	A	T	9: 79,538,023 (GRCm39)	Y2514*	probably null	Het
Col6a6	G	A	9: 105,660,889 (GRCm39)	R407W	probably damaging	Het
Csnk1g1	T	C	9: 65,927,190 (GRCm39)	V119A	probably damaging	Het
Cspg4b	T	C	13: 113,459,288 (GRCm39)	I1273T	probably benign	Het
Ddx60	G	A	8: 62,402,012 (GRCm39)		probably null	Het
Dnajb12	A	T	10: 59,733,321 (GRCm39)	K372N	probably benign	Het
Fhl5	A	C	4: 25,200,118 (GRCm39)	C239G	probably benign	Het
Gad2	G	A	2: 22,575,422 (GRCm39)	V509I	probably benign	Het
Glrb	T	A	3: 80,786,946 (GRCm39)	R72S	probably damaging	Het
Gm6811	T	C	17: 21,314,865 (GRCm39)		noncoding transcript	Het
Hecw1	C	T	13: 14,490,749 (GRCm39)	D748N	probably damaging	Het
Hk2	A	T	6: 82,712,322 (GRCm39)	L542Q	probably null	Het
Iglc1	A	T	16: 18,880,508 (GRCm39)	C104*	probably null	Het
Kel	T	A	6: 41,675,334 (GRCm39)	T306S	probably benign	Het
Lpo	T	C	11: 87,713,027 (GRCm39)	D25G	probably benign	Het
Mboat7	T	A	7: 3,691,545 (GRCm39)	Y109F	possibly damaging	Het
Myh15	T	G	16: 48,963,306 (GRCm39)	N1082K	probably benign	Het
Nagk	A	G	6: 83,774,993 (GRCm39)	E90G	probably benign	Het
Nagpa	A	T	16: 5,021,819 (GRCm39)	F10I	possibly damaging	Het
Or9a4	T	A	6: 40,548,998 (GRCm39)	L226H	probably damaging	Het
Otog	T	A	7: 45,939,122 (GRCm39)	C2051S	probably damaging	Het
Ptpn6	A	G	6: 124,704,361 (GRCm39)	V315A	possibly damaging	Het
Rbp3	G	C	14: 33,677,253 (GRCm39)	E400D	probably benign	Het
Rnf41	T	C	10: 128,272,392 (GRCm39)	S140P	probably benign	Het
Ros1	C	T	10: 51,997,055 (GRCm39)	V1206I	possibly damaging	Het
Scgb2b12	T	A	7: 32,024,870 (GRCm39)	E112D	probably benign	Het
Serpinb3b	T	A	1: 107,083,273 (GRCm39)	M210L	probably damaging	Het
Smc5	A	G	19: 23,246,210 (GRCm39)	S70P	probably benign	Het
Spen	C	T	4: 141,200,450 (GRCm39)	G2703S	possibly damaging	Het
Stard9	C	G	2: 120,464,703 (GRCm39)	A56G	probably damaging	Het
Wtap	A	G	17: 13,194,307 (GRCm39)	S87P	probably damaging	Het
Zzef1	T	G	11: 72,765,938 (GRCm39)	S1488R	probably benign	Het

Other mutations in Sipa1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01309:Sipa1l1	APN	12	82,434,470 (GRCm39)	missense	probably benign	0.06
IGL01478:Sipa1l1	APN	12	82,493,672 (GRCm39)	missense	probably benign	0.00
IGL01620:Sipa1l1	APN	12	82,469,263 (GRCm39)	missense	probably damaging	0.97
IGL02496:Sipa1l1	APN	12	82,471,868 (GRCm39)	missense	probably damaging	1.00
IGL02550:Sipa1l1	APN	12	82,487,723 (GRCm39)	nonsense	probably null
IGL02689:Sipa1l1	APN	12	82,487,594 (GRCm39)	missense	probably benign	0.01
IGL02706:Sipa1l1	APN	12	82,444,207 (GRCm39)	missense	possibly damaging	0.95
IGL02995:Sipa1l1	APN	12	82,404,105 (GRCm39)	missense	probably benign	0.39
IGL03104:Sipa1l1	APN	12	82,388,904 (GRCm39)	missense	probably benign	0.05
IGL03295:Sipa1l1	APN	12	82,479,714 (GRCm39)	missense	probably damaging	1.00
bullae	UTSW	12	82,389,024 (GRCm39)	missense	probably damaging	1.00
bullish	UTSW	12	82,469,245 (GRCm39)	nonsense	probably null
ebullient	UTSW	12	82,388,446 (GRCm39)	missense	probably benign	0.18
PIT4431001:Sipa1l1	UTSW	12	82,443,290 (GRCm39)	missense	probably benign	0.34
R0140:Sipa1l1	UTSW	12	82,442,974 (GRCm39)	missense	probably damaging	1.00
R0348:Sipa1l1	UTSW	12	82,431,530 (GRCm39)	critical splice donor site	probably null
R0534:Sipa1l1	UTSW	12	82,472,054 (GRCm39)	missense	possibly damaging	0.94
R0538:Sipa1l1	UTSW	12	82,471,873 (GRCm39)	missense	probably benign	0.00
R0547:Sipa1l1	UTSW	12	82,484,510 (GRCm39)	missense	probably benign
R0980:Sipa1l1	UTSW	12	82,388,994 (GRCm39)	missense	possibly damaging	0.60
R1051:Sipa1l1	UTSW	12	82,496,119 (GRCm39)	missense	possibly damaging	0.48
R1244:Sipa1l1	UTSW	12	82,472,190 (GRCm39)	missense	probably benign	0.00
R1473:Sipa1l1	UTSW	12	82,387,885 (GRCm39)	missense	probably damaging	1.00
R1508:Sipa1l1	UTSW	12	82,487,667 (GRCm39)	missense	probably damaging	1.00
R1563:Sipa1l1	UTSW	12	82,387,935 (GRCm39)	missense	probably benign	0.31
R1671:Sipa1l1	UTSW	12	82,444,235 (GRCm39)	missense	probably damaging	1.00
R1935:Sipa1l1	UTSW	12	82,419,208 (GRCm39)	missense	probably damaging	1.00
R1950:Sipa1l1	UTSW	12	82,388,233 (GRCm39)	missense	probably damaging	0.98
R2191:Sipa1l1	UTSW	12	82,443,465 (GRCm39)	nonsense	probably null
R2249:Sipa1l1	UTSW	12	82,388,890 (GRCm39)	missense	probably benign
R2909:Sipa1l1	UTSW	12	82,404,105 (GRCm39)	missense	probably benign	0.39
R4012:Sipa1l1	UTSW	12	82,388,556 (GRCm39)	missense	possibly damaging	0.86
R4154:Sipa1l1	UTSW	12	82,471,988 (GRCm39)	missense	possibly damaging	0.95
R4448:Sipa1l1	UTSW	12	82,388,524 (GRCm39)	missense	probably benign	0.15
R4651:Sipa1l1	UTSW	12	82,469,245 (GRCm39)	nonsense	probably null
R4652:Sipa1l1	UTSW	12	82,469,245 (GRCm39)	nonsense	probably null
R4751:Sipa1l1	UTSW	12	82,387,968 (GRCm39)	missense	probably benign
R4755:Sipa1l1	UTSW	12	82,419,160 (GRCm39)	missense	possibly damaging	0.74
R4888:Sipa1l1	UTSW	12	82,389,107 (GRCm39)	missense	probably damaging	0.96
R4912:Sipa1l1	UTSW	12	82,443,452 (GRCm39)	missense	possibly damaging	0.89
R4937:Sipa1l1	UTSW	12	82,388,103 (GRCm39)	missense	probably benign	0.01
R5068:Sipa1l1	UTSW	12	82,484,601 (GRCm39)	missense	probably damaging	1.00
R5113:Sipa1l1	UTSW	12	82,487,682 (GRCm39)	missense	probably benign	0.11
R5114:Sipa1l1	UTSW	12	82,487,682 (GRCm39)	missense	probably benign	0.11
R5240:Sipa1l1	UTSW	12	82,388,362 (GRCm39)	missense	possibly damaging	0.92
R6041:Sipa1l1	UTSW	12	82,389,024 (GRCm39)	missense	probably damaging	1.00
R6048:Sipa1l1	UTSW	12	82,487,643 (GRCm39)	missense	probably benign	0.03
R6170:Sipa1l1	UTSW	12	82,388,446 (GRCm39)	missense	probably benign	0.18
R6185:Sipa1l1	UTSW	12	82,471,802 (GRCm39)	missense	probably damaging	1.00
R6326:Sipa1l1	UTSW	12	82,419,242 (GRCm39)	missense	probably damaging	1.00
R6842:Sipa1l1	UTSW	12	82,467,320 (GRCm39)	missense	probably benign	0.00
R7008:Sipa1l1	UTSW	12	82,409,886 (GRCm39)	missense	probably damaging	0.99
R7058:Sipa1l1	UTSW	12	82,449,896 (GRCm39)	missense	probably benign	0.00
R7069:Sipa1l1	UTSW	12	82,388,180 (GRCm39)	missense	probably damaging	0.99
R7122:Sipa1l1	UTSW	12	82,469,236 (GRCm39)	missense	possibly damaging	0.79
R7310:Sipa1l1	UTSW	12	82,419,269 (GRCm39)	missense	probably damaging	1.00
R7469:Sipa1l1	UTSW	12	82,467,438 (GRCm39)	critical splice donor site	probably null
R7718:Sipa1l1	UTSW	12	82,389,271 (GRCm39)	missense	probably damaging	1.00
R7787:Sipa1l1	UTSW	12	82,496,762 (GRCm39)	missense	possibly damaging	0.81
R7844:Sipa1l1	UTSW	12	82,444,267 (GRCm39)	missense	probably damaging	1.00
R7893:Sipa1l1	UTSW	12	82,388,342 (GRCm39)	missense	probably benign	0.00
R7953:Sipa1l1	UTSW	12	82,496,700 (GRCm39)	missense	probably damaging	1.00
R8043:Sipa1l1	UTSW	12	82,496,700 (GRCm39)	missense	probably damaging	1.00
R8099:Sipa1l1	UTSW	12	82,480,600 (GRCm39)	missense	probably benign	0.08
R8135:Sipa1l1	UTSW	12	82,388,075 (GRCm39)	missense	probably benign
R8229:Sipa1l1	UTSW	12	82,484,622 (GRCm39)	missense	probably damaging	1.00
R8348:Sipa1l1	UTSW	12	82,443,045 (GRCm39)	missense	probably benign	0.13
R8388:Sipa1l1	UTSW	12	82,216,259 (GRCm39)	unclassified	probably benign
R8693:Sipa1l1	UTSW	12	82,216,517 (GRCm39)	unclassified	probably benign
R8826:Sipa1l1	UTSW	12	82,389,207 (GRCm39)	missense	probably damaging	1.00
R8884:Sipa1l1	UTSW	12	82,409,871 (GRCm39)	missense	probably damaging	0.99
R8940:Sipa1l1	UTSW	12	82,404,040 (GRCm39)	missense	probably damaging	1.00
R8975:Sipa1l1	UTSW	12	82,479,612 (GRCm39)	missense	possibly damaging	0.87
R9145:Sipa1l1	UTSW	12	82,443,335 (GRCm39)	missense	probably benign	0.01
R9328:Sipa1l1	UTSW	12	82,388,792 (GRCm39)	missense	possibly damaging	0.63
R9455:Sipa1l1	UTSW	12	82,434,399 (GRCm39)	missense	probably damaging	1.00
R9486:Sipa1l1	UTSW	12	82,404,139 (GRCm39)	critical splice donor site	probably null
R9631:Sipa1l1	UTSW	12	82,387,776 (GRCm39)	start codon destroyed	probably null	0.39
R9727:Sipa1l1	UTSW	12	82,471,829 (GRCm39)	missense	probably damaging	1.00
R9753:Sipa1l1	UTSW	12	82,463,763 (GRCm39)	missense	possibly damaging	0.93

Predicted Primers

PCR Primer
(F):5'- ACCACTGGTTGAGTTTACAGATG -3'
(R):5'- TCACGTCTGGCACTACTGAG -3'

Sequencing Primer
(F):5'- AGAAGCTGAGAGTCCTACGTCTTC -3'
(R):5'- TCTGGCACTACTGAGGAGACAC -3'

Posted On

2015-07-06