Mutagenetix > Incidental Mutation

Incidental Mutation 'R9149:Cramp1l'

694934

Institutional Source

Beutler Lab

Gene Symbol

Cramp1l

Ensembl Gene

ENSMUSG00000038002

Gene Name

cramped chromatin regulator homolog 1

Synonyms

5830477H08Rik, Tce4

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9149 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24961228-25015230 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24968946 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 1225 (S1225P)

Ref Sequence

ENSEMBL: ENSMUSP00000073060 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000073337]

AlphaFold

Q6PG95

Predicted Effect

probably damaging
Transcript: ENSMUST00000073337
AA Change: S1225P

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000073060
Gene: ENSMUSG00000038002
AA Change: S1225P

Domain	Start	End	E-Value	Type
low complexity region	11	20	N/A	INTRINSIC
low complexity region	29	43	N/A	INTRINSIC
low complexity region	51	64	N/A	INTRINSIC
low complexity region	100	126	N/A	INTRINSIC
low complexity region	134	147	N/A	INTRINSIC
SANT	159	219	3.68e-3	SMART
low complexity region	479	503	N/A	INTRINSIC
low complexity region	548	562	N/A	INTRINSIC
low complexity region	792	803	N/A	INTRINSIC
low complexity region	833	845	N/A	INTRINSIC
low complexity region	889	903	N/A	INTRINSIC
low complexity region	1069	1086	N/A	INTRINSIC
low complexity region	1113	1124	N/A	INTRINSIC
low complexity region	1141	1156	N/A	INTRINSIC
low complexity region	1171	1185	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

100% (90/90)

MGI Phenotype

PHENOTYPE: Mice homozygous for a transgenic gene disruption exhibit cleft palate. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930505A04Rik	C	T	11: 30,446,304	S103N	probably benign	Het
Ace	A	G	11: 105,972,473	D358G	possibly damaging	Het
Acvr2b	A	T	9: 119,428,050	H115L	probably damaging	Het
Adam15	G	A	3: 89,347,435	T106I	possibly damaging	Het
Adamts16	A	G	13: 70,735,829	C1076R	probably damaging	Het
Adcy5	A	G	16: 35,272,111	Y614C	probably damaging	Het
Adhfe1	A	T	1: 9,557,051	H225L	probably benign	Het
Aff3	A	G	1: 38,181,316	I1171T	probably damaging	Het
Agps	T	A	2: 75,866,838	M334K	probably damaging	Het
Akr1e1	A	G	13: 4,602,679		probably null	Het
Als2cl	G	A	9: 110,889,123	V311M	probably benign	Het
Amdhd1	A	T	10: 93,539,951	L7H	probably damaging	Het
Apba1	A	T	19: 23,893,418	I205F	probably damaging	Het
Arhgap26	A	T	18: 39,111,864	E187D	possibly damaging	Het
Ash1l	A	T	3: 89,007,223	H1720L	probably benign	Het
Atp9a	T	C	2: 168,734,068		probably benign	Het
Bcl7c	G	A	7: 127,708,523	A2V	probably damaging	Het
Catsperg1	G	C	7: 29,210,487	P72R	probably benign	Het
Ccdc103	G	A	11: 102,884,096	G174R	probably benign	Het
Ccdc171	A	T	4: 83,694,275	K976M	probably damaging	Het
Ceacam1	T	C	7: 25,473,935	N276S	possibly damaging	Het
Cep152	T	C	2: 125,619,883	N91S	probably damaging	Het
Cep152	T	C	2: 125,621,207	E18G	probably damaging	Het
Cers3	T	C	7: 66,743,694	L17P	probably benign	Het
Cpsf3	A	G	12: 21,306,843	N489S	possibly damaging	Het
Dck	G	A	5: 88,765,307	G18R	probably benign	Het
Dnah5	A	T	15: 28,387,768	E3124D	probably benign	Het
Eogt	T	G	6: 97,113,878	L433F	probably damaging	Het
Fam135b	A	G	15: 71,462,895	S817P		Het
Fsip2	T	C	2: 82,982,030	Y2898H	possibly damaging	Het
Fzr1	T	C	10: 81,369,415	H249R	probably benign	Het
Gbp10	T	G	5: 105,218,995	Q457P	probably damaging	Het
Gin1	G	C	1: 97,783,094	L167F	probably damaging	Het
Gm14226	A	T	2: 155,024,923	I267F	probably damaging	Het
Gmnc	A	G	16: 26,962,892		probably null	Het
Hectd2	A	T	19: 36,599,002	I311F	probably damaging	Het
Heg1	A	G	16: 33,738,591	K1085E	probably benign	Het
Hmbs	G	A	9: 44,341,686	Q34*	probably null	Het
Hyal6	T	A	6: 24,734,152	M28K	probably benign	Het
Ifi27	T	C	12: 103,439,419	V141A	possibly damaging	Het
Ift122	T	A	6: 115,890,531	I414N	probably damaging	Het
Iglv2	A	T	16: 19,260,684	V23E	probably damaging	Het
Itgax	A	T	7: 128,131,469	I120L	probably benign	Het
Kifc3	A	G	8: 95,126,689	I13T	probably benign	Het
Lmod3	T	C	6: 97,247,664	N399D	probably damaging	Het
Macf1	A	T	4: 123,471,533	I3145K	probably benign	Het
Map2k5	A	C	9: 63,293,724	I209S	probably damaging	Het
Mbd5	A	G	2: 49,251,376	E117G	probably damaging	Het
Milr1	A	G	11: 106,761,279	H172R	probably benign	Het
Myod1	A	C	7: 46,377,169	D166A		Het
Neb	C	T	2: 52,210,866	V4647M	possibly damaging	Het
Nek1	A	T	8: 61,121,021	D1101V	probably damaging	Het
Nlrp2	A	T	7: 5,327,573	V608D	probably benign	Het
Noc3l	G	A	19: 38,812,391	Q216*	probably null	Het
Nos1	G	C	5: 117,879,337	R255P	probably benign	Het
Nup160	T	A	2: 90,722,241		probably benign	Het
Nxt2	C	T	X: 142,237,751	A118V	possibly damaging	Het
Oat	C	T	7: 132,564,277	S193N	probably benign	Het
Olfr1	T	A	11: 73,396,027		probably benign	Het
Olfr1148	G	T	2: 87,833,179	G47*	probably null	Het
Olfr344	T	G	2: 36,568,976	F126C	probably benign	Het
Olfr776	A	G	10: 129,261,315	Y118C	probably damaging	Het
Olfr812	A	G	10: 129,842,613	V143A	probably damaging	Het
Oma1	A	G	4: 103,325,017		probably null	Het
Os9	A	G	10: 127,098,049	S500P	possibly damaging	Het
Osbpl11	A	T	16: 33,227,290	N541I		Het
Pcnx4	A	G	12: 72,566,897	I539V	probably benign	Het
Ppfia3	T	A	7: 45,350,293		probably null	Het
Ppp1r3a	T	C	6: 14,722,099	K275E	probably benign	Het
Pten	A	G	19: 32,792,572	N63S	probably benign	Het
Rptor	A	G	11: 119,887,070	N1020S	probably benign	Het
Sall2	C	A	14: 52,313,216	D841Y	possibly damaging	Het
Sbno1	T	A	5: 124,381,699	H1172L	probably benign	Het
Scaf4	A	T	16: 90,230,166	L921Q	probably damaging	Het
Sec22c	C	A	9: 121,695,684	R11L	probably damaging	Het
Skint6	T	A	4: 113,176,976	D318V	probably damaging	Het
Slc22a28	T	C	19: 8,071,840	N348S	probably benign	Het
Slc44a2	G	T	9: 21,342,009	K77N	possibly damaging	Het
Smc1b	C	T	15: 85,066,230	V1198I	probably benign	Het
Spef2	A	T	15: 9,717,482	M316K	probably damaging	Het
Stra8	T	C	6: 34,934,081	Y215H	probably damaging	Het
Sv2a	G	T	3: 96,189,694	R445L	probably benign	Het
Sycp1	A	C	3: 102,851,628	L771R	probably damaging	Het
Tchp	A	T	5: 114,721,123	R493*	probably null	Het
Ttc13	G	A	8: 124,683,300	A391V	probably benign	Het
Unc13b	C	T	4: 43,176,186	T2338I	unknown	Het
Wac	A	G	18: 7,921,592	D576G	probably damaging	Het
Wdr34	T	A	2: 30,033,941	T191S	probably benign	Het
Xdh	T	C	17: 73,915,693	N559S	probably benign	Het
Zscan20	A	T	4: 128,588,121	S583T	probably benign	Het

Other mutations in Cramp1l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00566:Cramp1l	APN	17	24983951	missense	probably benign	0.11
IGL01360:Cramp1l	APN	17	24997573	missense	probably damaging	1.00
IGL01966:Cramp1l	APN	17	24982943	missense	probably benign	0.01
IGL02211:Cramp1l	APN	17	24977636	missense	possibly damaging	0.94
IGL02474:Cramp1l	APN	17	24985050	missense	probably damaging	0.98
IGL02798:Cramp1l	APN	17	24968920	splice site	probably benign
IGL03340:Cramp1l	APN	17	24973542	missense	probably damaging	1.00
R0106:Cramp1l	UTSW	17	24972376	missense	probably benign	0.30
R1054:Cramp1l	UTSW	17	24983177	missense	probably damaging	1.00
R1220:Cramp1l	UTSW	17	24982237	missense	probably damaging	1.00
R1341:Cramp1l	UTSW	17	24977540	missense	probably damaging	1.00
R1491:Cramp1l	UTSW	17	24972349	missense	probably benign	0.17
R1610:Cramp1l	UTSW	17	24983951	missense	probably benign	0.11
R1649:Cramp1l	UTSW	17	24983243	missense	probably damaging	1.00
R1795:Cramp1l	UTSW	17	24964910	missense	probably damaging	1.00
R1856:Cramp1l	UTSW	17	24968978	missense	probably damaging	1.00
R1881:Cramp1l	UTSW	17	24977682	splice site	probably benign
R1968:Cramp1l	UTSW	17	24964939	missense	probably damaging	1.00
R2047:Cramp1l	UTSW	17	25003215	nonsense	probably null
R2099:Cramp1l	UTSW	17	24973085	missense	probably benign	0.01
R2298:Cramp1l	UTSW	17	24997480	missense	probably damaging	0.96
R3752:Cramp1l	UTSW	17	24971558	missense	probably damaging	1.00
R3821:Cramp1l	UTSW	17	24974782	missense	probably damaging	1.00
R3861:Cramp1l	UTSW	17	24997614	splice site	probably benign
R4399:Cramp1l	UTSW	17	24979585	missense	probably damaging	1.00
R4847:Cramp1l	UTSW	17	24985089	missense	probably damaging	1.00
R4883:Cramp1l	UTSW	17	24982319	missense	probably benign
R5579:Cramp1l	UTSW	17	24973113	missense	possibly damaging	0.89
R5631:Cramp1l	UTSW	17	24985603	missense	possibly damaging	0.93
R5716:Cramp1l	UTSW	17	24974735	missense	probably damaging	0.99
R6589:Cramp1l	UTSW	17	24977492	splice site	probably null
R6631:Cramp1l	UTSW	17	24983957	missense	probably benign	0.40
R7307:Cramp1l	UTSW	17	24974745	missense	possibly damaging	0.94
R7323:Cramp1l	UTSW	17	24982405	missense	possibly damaging	0.90
R7672:Cramp1l	UTSW	17	24982466	missense	probably damaging	0.96
R7832:Cramp1l	UTSW	17	24983222	missense	probably damaging	0.96
R8071:Cramp1l	UTSW	17	24982700	missense	probably damaging	0.99
R8244:Cramp1l	UTSW	17	24971410	missense	probably damaging	1.00
R8430:Cramp1l	UTSW	17	24977562	missense	probably damaging	1.00
R8783:Cramp1l	UTSW	17	24974758	missense	probably damaging	0.99
R8890:Cramp1l	UTSW	17	24983140	missense	probably damaging	1.00
R8892:Cramp1l	UTSW	17	24983140	missense	probably damaging	1.00
R8894:Cramp1l	UTSW	17	24983140	missense	probably damaging	1.00
R8937:Cramp1l	UTSW	17	24983982	missense	probably damaging	0.99
R8941:Cramp1l	UTSW	17	24983140	missense	probably damaging	1.00
R9029:Cramp1l	UTSW	17	25013910	missense	probably damaging	1.00
R9047:Cramp1l	UTSW	17	24979629	missense	possibly damaging	0.90
R9262:Cramp1l	UTSW	17	25013946	missense	probably damaging	0.99
R9460:Cramp1l	UTSW	17	25003307	missense	probably damaging	1.00
R9614:Cramp1l	UTSW	17	24982809	missense	probably damaging	1.00
R9615:Cramp1l	UTSW	17	24982809	missense	probably damaging	1.00
R9651:Cramp1l	UTSW	17	24982809	missense	probably damaging	1.00
R9652:Cramp1l	UTSW	17	24982809	missense	probably damaging	1.00
R9653:Cramp1l	UTSW	17	24982809	missense	probably damaging	1.00
R9665:Cramp1l	UTSW	17	24977571	missense	probably damaging	1.00
R9753:Cramp1l	UTSW	17	24972346	missense	possibly damaging	0.81

Predicted Primers

PCR Primer
(F):5'- CAAGTGCTGCCAGATCTCTC -3'
(R):5'- TGGGTAGCCCTTGACACAAG -3'

Sequencing Primer
(F):5'- TGCTGCCAGATCTCTCAGAGAC -3'
(R):5'- TAGAGGGCCCTGACTAGGCTAC -3'

Posted On

2022-01-20