Mutagenetix > Incidental Mutation

Incidental Mutation 'R9438:Ice1'

713397

Institutional Source

Beutler Lab

Gene Symbol

Ice1

Ensembl Gene

ENSMUSG00000034525

Gene Name

interactor of little elongation complex ELL subunit 1

Synonyms

BC018507

MMRRC Submission

Accession Numbers

Essential gene?

Probably essential (E-score: 0.941) question?

Stock #

R9438 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

70736808-70785958 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 70754434 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 551 (S551P)

Ref Sequence

ENSEMBL: ENSMUSP00000036482 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000043493] [ENSMUST00000220637] [ENSMUST00000222568]

AlphaFold

E9Q286

Predicted Effect

probably benign
Transcript: ENSMUST00000043493
AA Change: S551P

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000036482
Gene: ENSMUSG00000034525
AA Change: S551P

Domain	Start	End	E-Value	Type
coiled coil region	22	185	N/A	INTRINSIC
low complexity region	276	292	N/A	INTRINSIC
low complexity region	338	351	N/A	INTRINSIC
low complexity region	372	378	N/A	INTRINSIC
low complexity region	469	481	N/A	INTRINSIC
low complexity region	606	619	N/A	INTRINSIC
low complexity region	769	780	N/A	INTRINSIC
low complexity region	946	958	N/A	INTRINSIC
low complexity region	1061	1073	N/A	INTRINSIC
low complexity region	1329	1352	N/A	INTRINSIC
low complexity region	1595	1604	N/A	INTRINSIC
low complexity region	1656	1671	N/A	INTRINSIC
SCOP:d1gw5a_	2026	2223	5e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000220637

Predicted Effect

probably benign
Transcript: ENSMUST00000222568

Predicted Effect

probably benign
Transcript: ENSMUST00000222627

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acp2	G	A	2: 91,033,339 (GRCm39)	M20I	probably benign	Het
Adgra1	C	T	7: 139,432,525 (GRCm39)	P121L	probably benign	Het
Arhgap39	C	A	15: 76,636,118 (GRCm39)	R39L	probably damaging	Het
Atp1b3	A	T	9: 96,215,631 (GRCm39)	N261K	possibly damaging	Het
Atp8b3	C	T	10: 80,361,409 (GRCm39)	A838T	probably damaging	Het
Cacng8	G	A	7: 3,463,919 (GRCm39)	S357N	unknown	Het
Calhm5	T	C	10: 33,972,049 (GRCm39)	M129V	probably benign	Het
Ccdc93	C	T	1: 121,369,584 (GRCm39)	Q109*	probably null	Het
Cdk19	T	A	10: 40,352,176 (GRCm39)	D319E	probably damaging	Het
Chd6	A	G	2: 160,799,078 (GRCm39)	S2336P	probably benign	Het
Cntn1	G	A	15: 92,144,024 (GRCm39)		probably null	Het
Cts6	G	A	13: 61,350,069 (GRCm39)	T4I	probably benign	Het
Ddt	A	T	10: 75,607,332 (GRCm39)	I98N	probably damaging	Het
Diaph1	A	C	18: 38,026,443 (GRCm39)	V465G	unknown	Het
Dnah2	G	T	11: 69,364,220 (GRCm39)	D2064E	probably damaging	Het
Dnmt1	T	C	9: 20,827,190 (GRCm39)	N969D	probably benign	Het
Dot1l	T	A	10: 80,627,120 (GRCm39)	V1447E	probably benign	Het
Efs	T	A	14: 55,156,868 (GRCm39)	D389V		Het
Gbp11	T	A	5: 105,474,471 (GRCm39)	K402*	probably null	Het
Grm7	A	T	6: 111,231,077 (GRCm39)	D500V	possibly damaging	Het
Hecw1	T	C	13: 14,481,414 (GRCm39)	M439V	probably benign	Het
Igsf9b	T	C	9: 27,243,839 (GRCm39)	S779P	probably benign	Het
Itpr2	T	C	6: 146,068,166 (GRCm39)	N2437S	probably benign	Het
Kbtbd12	G	A	6: 88,591,040 (GRCm39)	Q391*	probably null	Het
Kcnma1	T	C	14: 23,417,653 (GRCm39)	I859V	probably benign	Het
Klri1	A	C	6: 129,675,879 (GRCm39)	D130E	probably benign	Het
Krt9	A	G	11: 100,079,824 (GRCm39)	Y523H	unknown	Het
Ldhc	G	T	7: 46,515,857 (GRCm39)	V51F	possibly damaging	Het
Macf1	G	T	4: 123,279,366 (GRCm39)	D5890E	probably benign	Het
Map4k4	A	G	1: 40,045,952 (GRCm39)	S613G	probably damaging	Het
Mrpl55	A	G	11: 59,096,581 (GRCm39)	D118G	probably damaging	Het
Muc16	T	C	9: 18,559,028 (GRCm39)	T2422A	unknown	Het
Nfkbib	T	A	7: 28,459,654 (GRCm39)	D219V	probably damaging	Het
Nsd2	A	G	5: 34,000,632 (GRCm39)	K50E	probably damaging	Het
Nudcd1	C	T	15: 44,269,321 (GRCm39)	R113H	probably benign	Het
Or5p55	A	T	7: 107,567,000 (GRCm39)	Y132F	probably damaging	Het
Or7e170	C	T	9: 19,795,083 (GRCm39)	E173K	probably benign	Het
Or7g19	T	A	9: 18,856,326 (GRCm39)	C127*	probably null	Het
Papln	A	T	12: 83,818,606 (GRCm39)	T63S	probably benign	Het
Pax4	T	C	6: 28,446,185 (GRCm39)	I103V	possibly damaging	Het
Pitpnm2	G	A	5: 124,269,342 (GRCm39)	H427Y	probably damaging	Het
Plk5	T	A	10: 80,193,867 (GRCm39)	V52E	probably damaging	Het
Prr23a4	G	A	9: 98,785,833 (GRCm39)	S166N	probably benign	Het
Rab44	A	G	17: 29,364,226 (GRCm39)	H600R	unknown	Het
Rbbp6	G	A	7: 122,599,456 (GRCm39)	V1256I		Het
Rexo1	T	A	10: 80,378,848 (GRCm39)	T1063S	possibly damaging	Het
Rp1l1	A	G	14: 64,265,574 (GRCm39)	R387G	possibly damaging	Het
Rufy3	T	C	5: 88,796,124 (GRCm39)	S603P	probably benign	Het
Setd1b	A	G	5: 123,285,944 (GRCm39)	H330R	unknown	Het
Strc	A	T	2: 121,198,647 (GRCm39)	W1415R	probably damaging	Het
Tcstv5	A	G	13: 120,411,363 (GRCm39)	L81P	probably benign	Het
Terf2	C	A	8: 107,803,504 (GRCm39)	A359S	probably benign	Het
Tmod1	A	G	4: 46,093,958 (GRCm39)	N223S	probably damaging	Het
Tram2	T	A	1: 21,075,834 (GRCm39)	I195F	possibly damaging	Het
Trap1	T	C	16: 3,883,131 (GRCm39)	Q148R	probably benign	Het
Tsks	C	T	7: 44,607,095 (GRCm39)	R143*	probably null	Het
Ttc14	T	A	3: 33,858,861 (GRCm39)	H373Q	probably damaging	Het
Ttn	T	C	2: 76,747,748 (GRCm39)	K4434E	probably benign	Het
Usp7	T	C	16: 8,522,833 (GRCm39)	D347G	probably benign	Het
Vps13d	T	C	4: 144,858,314 (GRCm39)	E2170G		Het
Xrn1	T	C	9: 95,893,287 (GRCm39)	I1001T	probably benign	Het

Other mutations in Ice1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00904:Ice1	APN	13	70,750,408 (GRCm39)	missense	probably damaging	1.00
IGL01155:Ice1	APN	13	70,752,201 (GRCm39)	missense	possibly damaging	0.93
IGL01298:Ice1	APN	13	70,753,023 (GRCm39)	missense	possibly damaging	0.93
IGL01797:Ice1	APN	13	70,772,065 (GRCm39)	missense	probably damaging	1.00
IGL02423:Ice1	APN	13	70,740,718 (GRCm39)	missense	probably damaging	1.00
IGL02583:Ice1	APN	13	70,753,854 (GRCm39)	missense	possibly damaging	0.80
IGL02794:Ice1	APN	13	70,757,278 (GRCm39)	missense	possibly damaging	0.95
IGL02882:Ice1	APN	13	70,772,593 (GRCm39)	splice site	probably benign
IGL02929:Ice1	APN	13	70,744,322 (GRCm39)	missense	probably damaging	1.00
IGL03343:Ice1	APN	13	70,751,048 (GRCm39)	missense	probably damaging	1.00
IGL03384:Ice1	APN	13	70,751,368 (GRCm39)	missense	probably benign	0.00
PIT4651001:Ice1	UTSW	13	70,772,040 (GRCm39)	critical splice donor site	probably null
R0078:Ice1	UTSW	13	70,751,467 (GRCm39)	missense	probably damaging	0.98
R0081:Ice1	UTSW	13	70,767,163 (GRCm39)	nonsense	probably null
R0281:Ice1	UTSW	13	70,752,166 (GRCm39)	missense	possibly damaging	0.64
R0557:Ice1	UTSW	13	70,749,310 (GRCm39)	missense	probably benign	0.08
R0973:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	probably benign	0.04
R0973:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	probably benign	0.04
R0974:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	probably benign	0.04
R1033:Ice1	UTSW	13	70,754,713 (GRCm39)	missense	probably damaging	0.96
R1371:Ice1	UTSW	13	70,744,340 (GRCm39)	missense	probably damaging	1.00
R1525:Ice1	UTSW	13	70,753,529 (GRCm39)	missense	probably benign	0.01
R1539:Ice1	UTSW	13	70,754,023 (GRCm39)	missense	probably damaging	1.00
R1596:Ice1	UTSW	13	70,753,014 (GRCm39)	missense	possibly damaging	0.94
R1603:Ice1	UTSW	13	70,751,472 (GRCm39)	missense	probably benign	0.01
R1680:Ice1	UTSW	13	70,753,567 (GRCm39)	missense	probably benign	0.00
R1737:Ice1	UTSW	13	70,754,444 (GRCm39)	missense	probably damaging	0.99
R1766:Ice1	UTSW	13	70,752,561 (GRCm39)	missense	possibly damaging	0.78
R1774:Ice1	UTSW	13	70,752,672 (GRCm39)	missense	probably damaging	1.00
R1834:Ice1	UTSW	13	70,763,457 (GRCm39)	missense	probably damaging	0.99
R1840:Ice1	UTSW	13	70,754,337 (GRCm39)	missense	probably benign	0.00
R1898:Ice1	UTSW	13	70,750,426 (GRCm39)	missense	possibly damaging	0.83
R1930:Ice1	UTSW	13	70,753,202 (GRCm39)	missense	probably benign	0.18
R2000:Ice1	UTSW	13	70,750,546 (GRCm39)	missense	possibly damaging	0.58
R2106:Ice1	UTSW	13	70,753,741 (GRCm39)	missense	probably benign	0.00
R2293:Ice1	UTSW	13	70,763,076 (GRCm39)	missense	probably damaging	1.00
R2377:Ice1	UTSW	13	70,750,899 (GRCm39)	missense	probably damaging	1.00
R2909:Ice1	UTSW	13	70,744,292 (GRCm39)	missense	probably damaging	1.00
R2965:Ice1	UTSW	13	70,750,697 (GRCm39)	missense	probably benign	0.31
R3730:Ice1	UTSW	13	70,751,359 (GRCm39)	missense	probably damaging	1.00
R3886:Ice1	UTSW	13	70,753,489 (GRCm39)	missense	probably benign	0.00
R3914:Ice1	UTSW	13	70,754,203 (GRCm39)	missense	probably benign	0.30
R4051:Ice1	UTSW	13	70,751,646 (GRCm39)	missense	probably damaging	1.00
R4321:Ice1	UTSW	13	70,751,229 (GRCm39)	missense	possibly damaging	0.83
R4499:Ice1	UTSW	13	70,757,146 (GRCm39)	missense	possibly damaging	0.87
R4729:Ice1	UTSW	13	70,754,503 (GRCm39)	missense	probably damaging	1.00
R5078:Ice1	UTSW	13	70,752,969 (GRCm39)	missense	probably benign
R5431:Ice1	UTSW	13	70,740,769 (GRCm39)	missense	probably damaging	1.00
R5722:Ice1	UTSW	13	70,763,219 (GRCm39)	missense	possibly damaging	0.95
R5881:Ice1	UTSW	13	70,754,620 (GRCm39)	missense	probably benign	0.04
R5914:Ice1	UTSW	13	70,754,496 (GRCm39)	missense	possibly damaging	0.93
R6171:Ice1	UTSW	13	70,754,850 (GRCm39)	missense	probably benign
R6253:Ice1	UTSW	13	70,751,283 (GRCm39)	missense	probably damaging	1.00
R6274:Ice1	UTSW	13	70,742,958 (GRCm39)	missense	probably damaging	0.97
R6518:Ice1	UTSW	13	70,754,428 (GRCm39)	missense	possibly damaging	0.89
R6665:Ice1	UTSW	13	70,751,592 (GRCm39)	missense	possibly damaging	0.85
R6714:Ice1	UTSW	13	70,763,382 (GRCm39)	splice site	probably null
R6853:Ice1	UTSW	13	70,751,421 (GRCm39)	missense	possibly damaging	0.92
R6917:Ice1	UTSW	13	70,743,013 (GRCm39)	missense	probably damaging	1.00
R7032:Ice1	UTSW	13	70,744,283 (GRCm39)	missense	probably damaging	0.99
R7176:Ice1	UTSW	13	70,772,525 (GRCm39)	critical splice donor site	probably null
R7352:Ice1	UTSW	13	70,754,221 (GRCm39)	nonsense	probably null
R7445:Ice1	UTSW	13	70,744,286 (GRCm39)	missense
R7646:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7647:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7648:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7650:Ice1	UTSW	13	70,753,602 (GRCm39)	missense	probably damaging	1.00
R7650:Ice1	UTSW	13	70,737,916 (GRCm39)	missense	possibly damaging	0.93
R7812:Ice1	UTSW	13	70,751,124 (GRCm39)	missense	possibly damaging	0.63
R8061:Ice1	UTSW	13	70,751,851 (GRCm39)	missense	probably damaging	1.00
R8129:Ice1	UTSW	13	70,754,320 (GRCm39)	missense	probably benign	0.02
R8283:Ice1	UTSW	13	70,752,549 (GRCm39)	missense	probably damaging	0.97
R8303:Ice1	UTSW	13	70,754,526 (GRCm39)	missense	probably benign	0.04
R8444:Ice1	UTSW	13	70,752,495 (GRCm39)	missense	probably damaging	1.00
R8474:Ice1	UTSW	13	70,752,566 (GRCm39)	missense	probably benign	0.42
R8751:Ice1	UTSW	13	70,751,010 (GRCm39)	missense	probably damaging	1.00
R8887:Ice1	UTSW	13	70,751,050 (GRCm39)	missense	probably damaging	1.00
R8911:Ice1	UTSW	13	70,740,787 (GRCm39)	missense
R8954:Ice1	UTSW	13	70,758,697 (GRCm39)	missense	probably damaging	1.00
R9345:Ice1	UTSW	13	70,740,758 (GRCm39)	missense
R9452:Ice1	UTSW	13	70,744,462 (GRCm39)	missense	probably damaging	1.00
X0026:Ice1	UTSW	13	70,740,721 (GRCm39)	missense	probably damaging	1.00
Z1176:Ice1	UTSW	13	70,753,320 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTACTGCAGACCGACACTGG -3'
(R):5'- TCTGTGCAAGTTGGGAAAGG -3'

Sequencing Primer
(F):5'- ACACTGGTACCGAGGTAGC -3'
(R):5'- CAAGTTGGGAAAGGGCTGCTG -3'

Posted On

2022-05-16