Mutagenetix > Incidental Mutation

Incidental Mutation 'R7787:Cd1d1'

599576

Institutional Source

Beutler Lab

Gene Symbol

Cd1d1

Ensembl Gene

ENSMUSG00000028076

Gene Name

CD1d1 antigen

Synonyms

Cd1d, Cd1a, CD1.1, Ly-38

MMRRC Submission

045843-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R7787 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

86903141-86906748 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 86904903 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 212 (S212P)

Ref Sequence

ENSEMBL: ENSMUSP00000029717 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029717] [ENSMUST00000063869]

AlphaFold

no structure available at present

Predicted Effect

probably damaging
Transcript: ENSMUST00000029717
AA Change: S212P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029717
Gene: ENSMUSG00000028076
AA Change: S212P

Domain	Start	End	E-Value	Type
Pfam:MHC_I_3	1	200	1.3e-95	PFAM
IGc1	221	291	5.35e-22	SMART
transmembrane domain	304	326	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000063869
AA Change: S81P

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

SMART Domains

Protein: ENSMUSP00000070616
Gene: ENSMUSG00000028076
AA Change: S81P

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
PDB:4MQ7\|A	23	73	2e-15	PDB
IGc1	90	160	5.35e-22	SMART
low complexity region	173	194	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (74/74)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a divergent member of the CD1 family of transmembrane glycoproteins, which are structurally related to the major histocompatibility complex (MHC) proteins and form heterodimers with beta-2-microglobulin. The CD1 proteins mediate the presentation of primarily lipid and glycolipid antigens of self or microbial origin to T cells. The human genome contains five CD1 family genes organized in a cluster on chromosome 1. The CD1 family members are thought to differ in their cellular localization and specificity for particular lipid ligands. The protein encoded by this gene localizes to late endosomes and lysosomes via a tyrosine-based motif in the cytoplasmic tail. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jan 2016]
PHENOTYPE: Homozygotes for targeted null mutations lack natural killer T cells, and mutant splenocytes fail to produce interleukin 4 (IL4). [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 77 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	T	A	7: 27,263,926 (GRCm39)	I38N	probably damaging	Het
Abcb4	G	A	5: 8,959,220 (GRCm39)	V216M	probably damaging	Het
Abcc2	G	A	19: 43,772,685 (GRCm39)	V32M	probably damaging	Het
Adgrb3	C	A	1: 25,471,625 (GRCm39)	V714F	probably damaging	Het
Ahnak	T	A	19: 8,986,679 (GRCm39)	D2654E	unknown	Het
Ak8	T	A	2: 28,602,324 (GRCm39)	I86N	probably damaging	Het
Apob	G	A	12: 8,040,780 (GRCm39)	R635Q	probably damaging	Het
Atp10b	G	A	11: 43,150,700 (GRCm39)	R1466H	possibly damaging	Het
Bltp1	A	C	3: 36,939,557 (GRCm39)	H137P	probably damaging	Het
Btnl9	T	C	11: 49,066,866 (GRCm39)	T252A	unknown	Het
Cacna1e	T	A	1: 154,358,314 (GRCm39)	I648F	probably damaging	Het
Camkk1	A	G	11: 72,917,412 (GRCm39)	D121G	probably benign	Het
Cc2d1a	C	A	8: 84,860,144 (GRCm39)	Q904H	possibly damaging	Het
Cfap69	C	T	5: 5,639,260 (GRCm39)	C638Y	probably damaging	Het
Cilk1	G	C	9: 78,074,902 (GRCm39)	V586L	probably benign	Het
Clca4a	A	G	3: 144,659,594 (GRCm39)	V754A	probably benign	Het
Cnpy4	T	A	5: 138,190,900 (GRCm39)	H187Q	probably benign	Het
Cpne5	A	T	17: 29,407,261 (GRCm39)		probably null	Het
Crnkl1	A	T	2: 145,767,515 (GRCm39)	N359K	probably benign	Het
Cyb561	A	T	11: 105,828,466 (GRCm39)	L63H	probably damaging	Het
Dock4	A	G	12: 40,775,676 (GRCm39)	T540A	probably benign	Het
Edc4	T	A	8: 106,614,146 (GRCm39)	Y7*	probably null	Het
Fstl5	A	C	3: 76,337,131 (GRCm39)	D230A	probably damaging	Het
Fthl17b	C	T	X: 8,829,043 (GRCm39)	R9Q	possibly damaging	Het
Fthl17b	C	T	X: 8,829,047 (GRCm39)	V8M	possibly damaging	Het
H2bw2	G	A	X: 135,828,471 (GRCm39)	R120K	unknown	Het
Hecw1	T	C	13: 14,493,494 (GRCm39)	Q337R	probably damaging	Het
Hmcn1	A	T	1: 150,632,343 (GRCm39)	Y865N	probably damaging	Het
Hyal6	A	G	6: 24,743,735 (GRCm39)	Y477C	probably damaging	Het
Ifi205	C	T	1: 173,842,640 (GRCm39)	G352E	probably damaging	Het
Ifi205	T	A	1: 173,842,644 (GRCm39)	S351C	probably damaging	Het
Irak3	C	A	10: 120,012,256 (GRCm39)	Q169H	probably benign	Het
Itgb1	T	A	8: 129,453,499 (GRCm39)	N99K	probably benign	Het
Kng2	A	G	16: 22,818,598 (GRCm39)	F298S	probably damaging	Het
Kri1	T	C	9: 21,192,380 (GRCm39)	E256G		Het
Lamc3	T	C	2: 31,790,551 (GRCm39)	I257T	probably damaging	Het
Mas1	A	C	17: 13,061,374 (GRCm39)	N16K	possibly damaging	Het
Mdn1	T	A	4: 32,741,794 (GRCm39)	L3855Q	probably damaging	Het
Muc4	C	G	16: 32,575,221 (GRCm39)	Q1269E	probably benign	Het
Mybph	G	A	1: 134,125,246 (GRCm39)	G258D	probably benign	Het
Mycbp2	A	C	14: 103,364,533 (GRCm39)	H4358Q	probably damaging	Het
Nat10	T	C	2: 103,552,208 (GRCm39)	D1012G	unknown	Het
Nub1	C	A	5: 24,913,801 (GRCm39)	Q561K	probably benign	Het
Nynrin	A	G	14: 56,107,980 (GRCm39)	N1029S	probably benign	Het
Or52x1	A	T	7: 104,853,252 (GRCm39)	C99*	probably null	Het
Or56a4	T	G	7: 104,806,401 (GRCm39)	I163L	probably benign	Het
Or5k15	A	G	16: 58,709,953 (GRCm39)	F210S	probably benign	Het
Or6e1	A	G	14: 54,520,169 (GRCm39)	L61P	probably damaging	Het
Or8g19	C	T	9: 39,055,548 (GRCm39)	L51F	probably benign	Het
Pcsk1	T	A	13: 75,280,277 (GRCm39)	Y701N	possibly damaging	Het
Pglyrp4	C	G	3: 90,640,295 (GRCm39)	H182D	probably damaging	Het
Phaf1	T	G	8: 105,957,820 (GRCm39)	V42G	probably damaging	Het
Pkp4	C	A	2: 59,152,881 (GRCm39)	D576E	probably damaging	Het
Plec	A	G	15: 76,083,811 (GRCm39)	V17A	unknown	Het
Polq	T	A	16: 36,837,671 (GRCm39)	N194K	probably damaging	Het
Pou4f1	A	T	14: 104,703,460 (GRCm39)	M324K	unknown	Het
Ppa2	G	T	3: 133,036,259 (GRCm39)	G138W	probably damaging	Het
Prob1	A	T	18: 35,785,285 (GRCm39)	F990I	possibly damaging	Het
Proser1	T	A	3: 53,380,969 (GRCm39)	I182N	probably damaging	Het
Sgk3	T	C	1: 9,952,016 (GRCm39)	L214P	probably damaging	Het
Sipa1l1	T	C	12: 82,496,762 (GRCm39)	S1765P	possibly damaging	Het
Slc15a2	G	A	16: 36,572,228 (GRCm39)	S712L	probably benign	Het
Slc38a9	T	C	13: 112,825,880 (GRCm39)	L106P	probably damaging	Het
Slc43a2	G	A	11: 75,453,900 (GRCm39)	R271H	probably damaging	Het
Spsb4	T	A	9: 96,877,643 (GRCm39)	I227F	probably damaging	Het
Srgap3	C	T	6: 112,752,520 (GRCm39)	M321I	probably benign	Het
Stam2	T	C	2: 52,596,418 (GRCm39)	I340V	probably benign	Het
Tbc1d5	T	A	17: 51,181,711 (GRCm39)	R341*	probably null	Het
Terf2ip	A	C	8: 112,742,087 (GRCm39)	E260D	probably damaging	Het
Tert	G	T	13: 73,797,051 (GRCm39)	K1096N	probably damaging	Het
Ttc32	T	A	12: 9,088,083 (GRCm39)	D103E	probably benign	Het
Ube3d	T	A	9: 86,254,395 (GRCm39)	Q362L	possibly damaging	Het
Unc5c	G	A	3: 141,474,313 (GRCm39)	G295D	probably damaging	Het
Wnt7b	T	A	15: 85,428,112 (GRCm39)	I117F	probably damaging	Het
Zcchc7	T	C	4: 44,895,043 (GRCm39)		probably null	Het
Zfp619	A	G	7: 39,186,226 (GRCm39)	Q752R	possibly damaging	Het
Zkscan3	T	C	13: 21,572,034 (GRCm39)	K533E	possibly damaging	Het

Other mutations in Cd1d1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00588:Cd1d1	APN	3	86,905,480 (GRCm39)	missense	probably damaging	0.99
IGL01811:Cd1d1	APN	3	86,903,895 (GRCm39)	missense	possibly damaging	0.86
IGL02371:Cd1d1	APN	3	86,906,188 (GRCm39)	missense	probably benign	0.40
IGL03001:Cd1d1	APN	3	86,905,468 (GRCm39)	missense	probably benign
R0350:Cd1d1	UTSW	3	86,904,880 (GRCm39)	missense	probably benign	0.11
R1771:Cd1d1	UTSW	3	86,905,972 (GRCm39)	missense	possibly damaging	0.85
R2407:Cd1d1	UTSW	3	86,905,489 (GRCm39)	missense	probably damaging	1.00
R3906:Cd1d1	UTSW	3	86,906,063 (GRCm39)	missense	probably damaging	1.00
R4540:Cd1d1	UTSW	3	86,904,012 (GRCm39)	missense	probably benign	0.21
R4976:Cd1d1	UTSW	3	86,905,958 (GRCm39)	missense	probably benign	0.00
R5303:Cd1d1	UTSW	3	86,905,427 (GRCm39)	missense	probably benign	0.22
R5786:Cd1d1	UTSW	3	86,906,095 (GRCm39)	missense	probably benign	0.17
R6088:Cd1d1	UTSW	3	86,906,009 (GRCm39)	missense	probably benign	0.07
R6273:Cd1d1	UTSW	3	86,905,564 (GRCm39)	missense	probably benign	0.00
R7315:Cd1d1	UTSW	3	86,905,420 (GRCm39)	missense	possibly damaging	0.80
R8854:Cd1d1	UTSW	3	86,905,480 (GRCm39)	missense	probably damaging	0.99
R8957:Cd1d1	UTSW	3	86,906,140 (GRCm39)	missense	probably damaging	0.99
R9079:Cd1d1	UTSW	3	86,906,197 (GRCm39)	missense	probably benign
R9328:Cd1d1	UTSW	3	86,905,459 (GRCm39)	missense	possibly damaging	0.80
R9368:Cd1d1	UTSW	3	86,905,939 (GRCm39)	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- TCCAGGGTTGCTTGAAGATAC -3'
(R):5'- CTACAGGAGACTCAGATCAGGG -3'

Sequencing Primer
(F):5'- GCTTGAAGATACCATGTCTCATCAGC -3'
(R):5'- ATCAGGGATGGTCTTCCTAGCC -3'

Posted On

2019-11-26